Variant report

Variant	rs8071011
Chromosome Location	chr17:43488382-43488383
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PML	chr17:43487400-43488568	GM12878	blood:	n/a	n/a
2	POLR2A	chr17:43487385-43488416	GM18505	blood:	n/a	n/a
3	MYC	chr17:43488287-43488432	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr17:43487015-43488586	GM12892	blood:	n/a	n/a
5	MTA3	chr17:43487377-43488384	GM12878	blood:	n/a	n/a
6	RELA	chr17:43487620-43488468	GM18951	blood:	n/a	n/a
7	POLR2A	chr17:43487452-43488462	GM12892	blood:	n/a	n/a
8	POLR2A	chr17:43487500-43488530	HL-60	blood:	n/a	n/a
9	POLR2A	chr17:43487325-43488584	HL-60	blood:	n/a	n/a
10	POLR2A	chr17:43488176-43488455	GM12878	blood:	n/a	n/a
11	EBF1	chr17:43488113-43488488	GM12878	blood:	n/a	n/a
12	POLR2A	chr17:43487525-43488422	GM12891	blood:	n/a	n/a
13	POLR2A	chr17:43487529-43488485	GM12891	blood:	n/a	n/a
14	POLR2A	chr17:43487356-43488411	GM18951	blood:	n/a	n/a
15	NRF1	chr17:43488289-43488477	GM12878	blood:	n/a	n/a
16	POLR2A	chr17:43487150-43488596	GM12878	blood:	n/a	n/a
17	STAT5A	chr17:43487008-43488610	GM12878	blood:	n/a	chr17:43488198-43488210
18	POLR2A	chr17:43487339-43488391	GM12878	blood:	n/a	n/a
19	RUNX3	chr17:43487338-43488509	GM12878	blood:	n/a	n/a
20	RUNX3	chr17:43487445-43488476	GM12878	blood:	n/a	n/a
21	MYC	chr17:43488367-43488428	MCF-7	breast:	n/a	n/a
22	POLR2A	chr17:43487352-43488415	GM19193	blood:	n/a	n/a
23	MAX	chr17:43488378-43488748	GM12878	blood:	n/a	n/a
24	POLR2A	chr17:43487239-43488447	GM12878	blood:	n/a	n/a
25	SPI1	chr17:43487502-43488476	HL-60	blood:	n/a	chr17:43487966-43487973 chr17:43488181-43488188 chr17:43488180-43488189 chr17:43488218-43488225 chr17:43488197-43488210 chr17:43488177-43488190
26	MTA3	chr17:43487113-43488661	GM12878	blood:	n/a	n/a
27	POLR2A	chr17:43487473-43488608	GM12892	blood:	n/a	n/a
28	POLR2A	chr17:43487496-43488616	GM12878	blood:	n/a	n/a
29	EBF1	chr17:43488161-43488509	GM12878	blood:	n/a	n/a
30	MAZ	chr17:43487505-43488382	GM12878	blood:	n/a	n/a
31	POLR2A	chr17:43487440-43488441	GM12891	blood:	n/a	n/a
32	USF2	chr17:43488274-43488462	GM12878	blood:	n/a	n/a
33	CTCF	chr17:43488300-43488450	GM12867	blood:	n/a	n/a
34	POU2F2	chr17:43488131-43488569	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:43482138..43486060-chr17:43487634..43490567,4	K562	blood:
2	chr17:43483204..43486060-chr17:43488039..43490567,2	K562	blood:
3	chr17:43485959..43488824-chr17:43511157..43513900,2	K562	blood:
4	chr17:43487372..43488970-chr17:43502341..43504039,2	MCF-7	breast:

Variant related genes	Relation type
ARHGAP27	TF binding region
ENSG00000159314	Chromatin interaction

Extended variants
information (count: 159 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs11012	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12452273	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12939187	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12940792	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12942666	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12942951	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12946723	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12946900	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12947718	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12950965	0.85[EUR][1000 genomes]
rs12952504	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12952764	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17631303	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17631676	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1808189	0.92[EUR][1000 genomes]
rs1879581	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1879585	0.86[EUR][1000 genomes]
rs2028078	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2077606	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2090847	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2139890	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2960000	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34018943	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34063617	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34104358	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34286926	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34363898	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34465449	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34792542	0.81[EUR][1000 genomes]
rs34887474	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34915103	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35327136	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35389313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35489312	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35519908	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35626715	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35884427	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36078910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36114997	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3946526	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4763	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55642947	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55643511	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55648326	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55652155	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55663797	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55671319	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55703888	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55746869	0.86[EUR][1000 genomes]
rs55790407	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55793500	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55914643	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55925547	0.89[EUR][1000 genomes]
rs56005713	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56015792	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56020833	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56159231	0.85[EUR][1000 genomes]
rs56168933	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56192752	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56212100	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56220387	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56236914	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56378631	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62064597	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62064598	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62064600	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62064603	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62064637	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62064641	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62064643	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62064645	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62064646	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62064647	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62064649	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62064651	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62064652	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62064653	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62064654	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62064655	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62064657	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62065374	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62065376	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62065377	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62065378	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62065379	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62065380	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62065385	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62065389	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62065391	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62065392	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62065399	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62065403	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62065404	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62065436	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62065437	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62065438	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62065442	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62065445	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62065447	0.84[EUR][1000 genomes]
rs62065448	0.83[EUR][1000 genomes]
rs62065449	0.84[EUR][1000 genomes]
rs71238846	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71373560	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71373572	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7209501	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7220206	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7222389	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7222444	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73984391	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9730	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431632	chr17:43199763-43733983	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	210 gene(s)	inside rSNPs	diseases
2	nsv431633	chr17:43199763-43772540	Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	210 gene(s)	inside rSNPs	diseases
3	nsv431634	chr17:43346980-43659975	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv431636	chr17:43403005-43659881	Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	esv2754858	chr17:43403005-43666906	Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv431637	chr17:43403005-43716885	Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv428342	chr17:43443554-43651084	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	esv2757659	chr17:43457886-43733983	Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
9	esv2758691	chr17:43457886-43816023	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	esv2755280	chr17:43459697-43666906	Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
11	nsv908304	chr17:43467025-43524511	Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	nsv1065930	chr17:43467291-44151468	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
13	nsv431638	chr17:43470156-43693538	Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
14	esv2755741	chr17:43470760-43655688	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
15	nsv431639	chr17:43470760-43659355	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
16	esv2754089	chr17:43470760-43659881	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
17	esv34266	chr17:43470760-43659975	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
18	esv34577	chr17:43470760-43659975	Genic enhancers Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
19	esv2752564	chr17:43470760-43659975	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
20	esv2753343	chr17:43470760-43659975	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
21	esv2753852	chr17:43470760-43659975	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
22	esv2754692	chr17:43470760-43659975	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
23	esv2754773	chr17:43470760-43659975	Strong transcription Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
24	esv2754821	chr17:43470760-43659975	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
25	esv2755261	chr17:43470760-43659975	Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
26	esv2755434	chr17:43470760-43659975	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
27	esv2755618	chr17:43470760-43659975	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
28	esv2756206	chr17:43470760-43659975	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
29	esv2756211	chr17:43470760-43659975	Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
30	esv2756238	chr17:43470760-43659975	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
31	esv2756640	chr17:43470760-43659975	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
32	esv34307	chr17:43470760-43666906	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
33	esv2755466	chr17:43470760-43666906	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
34	esv2756448	chr17:43470760-43666906	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
35	nsv431640	chr17:43470760-43666906	Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
36	esv2753768	chr17:43470760-43734304	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
37	esv2754725	chr17:43470760-43741452	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
38	nsv575103	chr17:43485791-43497054	Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
39	esv2752397	chr17:43485791-43659975	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
40	esv2753431	chr17:43485791-43659975	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
41	esv2755266	chr17:43485791-43659975	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
42	esv2755477	chr17:43485791-43659975	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
43	esv2755480	chr17:43485791-43659975	Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
44	esv2756392	chr17:43485791-43659975	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
45	nsv431641	chr17:43485791-43659975	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
46	esv35084	chr17:43485791-43666906	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
47	esv2754833	chr17:43485791-43666906	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
48	nsv431643	chr17:43485791-43666906	Enhancers Bivalent/Poised TSS Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
49	nsv431642	chr17:43485791-43716885	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs8071011	ARL17	Cis_1M	lymphoblastoid	RTeQTL
rs8071011	LOC644246	Cis_1M	lymphoblastoid	RTeQTL
rs8071011	LRRC37A4	Cis_1M	lymphoblastoid	RTeQTL
rs8071011	ARHGAP27	Cis_1M	lymphoblastoid	RTeQTL
rs8071011	LRRC37A4	cis	multi-tissue	Pritchard
rs8071011	MAPK8IP1	trans	lymphoblastoid	RTeQTL

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:43475800-43490400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr17:43479400-43489600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr17:43482400-43501600	Weak transcription	HMEC	breast
4	chr17:43483200-43496000	Weak transcription	Hela-S3	cervix
5	chr17:43483400-43488800	Weak transcription	Psoas Muscle	Psoas
6	chr17:43483800-43488800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr17:43484200-43492400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr17:43484400-43488600	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr17:43484400-43502600	Weak transcription	Fetal Lung	lung
10	chr17:43484600-43502200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr17:43485200-43488600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr17:43485200-43490200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr17:43485600-43488400	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr17:43485600-43488400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
15	chr17:43485800-43488400	Active TSS	Rectal Smooth Muscle	rectum
16	chr17:43486000-43488600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr17:43486200-43488600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr17:43486600-43489800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr17:43486800-43488600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr17:43486800-43489400	Weak transcription	A549	lung
21	chr17:43487000-43488400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr17:43487000-43488400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr17:43487000-43488600	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr17:43487000-43493000	Weak transcription	K562	blood
25	chr17:43487200-43488400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr17:43487200-43488600	Enhancers	H1 Cell Line	embryonic stem cell
27	chr17:43487200-43488600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr17:43487200-43488600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr17:43487200-43490200	Genic enhancers	Fetal Intestine Large	intestine
30	chr17:43487400-43489000	Weak transcription	HSMMtube	muscle
31	chr17:43487400-43489200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr17:43487400-43496000	Weak transcription	NHEK	skin
33	chr17:43487400-43501400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr17:43487600-43488400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr17:43487600-43488600	Weak transcription	Brain Anterior Caudate	brain
36	chr17:43487600-43488800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr17:43487600-43489000	Weak transcription	Gastric	stomach
38	chr17:43487600-43489600	Weak transcription	HepG2	liver
39	chr17:43487600-43489800	Weak transcription	Pancreas	Pancrea
40	chr17:43487600-43490200	Enhancers	Fetal Muscle Trunk	muscle
41	chr17:43487600-43491600	Enhancers	Left Ventricle	heart
42	chr17:43487600-43493400	Enhancers	Stomach Mucosa	stomach
43	chr17:43487600-43496400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr17:43487800-43488400	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr17:43487800-43488400	Weak transcription	Brain Substantia Nigra	brain
46	chr17:43487800-43488600	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr17:43487800-43488600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr17:43487800-43489000	Weak transcription	Brain Hippocampus Middle	brain
49	chr17:43487800-43489000	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr17:43487800-43489200	Enhancers	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links