Variant report

Variant	rs2273030
Chromosome Location	chr17:18218164-18218165
allele	G/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	POLR2A	chr17:18217977-18218797	ProgFib	skin:	n/a	n/a
2	FOXP2	chr17:18217973-18218743	PFSK-1	brain:	n/a	n/a
3	REST	chr17:18217605-18219160	H1-neurons	neurons:	n/a	n/a
4	SIN3AK20	chr17:18217669-18218977	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr17:18217886-18218916	GM12892	blood:	n/a	n/a
6	BCLAF1	chr17:18217956-18218793	GM12878	blood:	n/a	chr17:18218421-18218430
7	TAF1	chr17:18217911-18218961	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr17:18218031-18218900	HepG2	liver:	n/a	n/a
9	REST	chr17:18217885-18218950	H1-neurons	neurons:	n/a	n/a
10	EP300	chr17:18217415-18218678	GM12878	blood:	n/a	chr17:18218622-18218631 chr17:18218422-18218431
11	BCL3	chr17:18217828-18218979	A549	lung:	n/a	chr17:18218421-18218430
12	POLR2A	chr17:18217689-18218862	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr17:18217846-18219057	K562	blood:	n/a	n/a
14	POLR2A	chr17:18217916-18218808	Gliobla	brain:	n/a	n/a
15	EBF1	chr17:18218095-18218738	GM12878	blood:	n/a	n/a
16	YY1	chr17:18217842-18218949	K562	blood:	n/a	chr17:18218622-18218631 chr17:18218617-18218627 chr17:18218826-18218840 chr17:18218609-18218629 chr17:18218610-18218629 chr17:18218422-18218431 chr17:18218605-18218627 chr17:18218616-18218624 chr17:18218618-18218626
17	POLR2A	chr17:18217975-18218860	PANC-1	pancreas:	n/a	n/a
18	ARID3A	chr17:18218048-18219030	HepG2	liver:	n/a	n/a
19	CEBPD	chr17:18218009-18218723	K562	blood:	n/a	n/a
20	SIX5	chr17:18218079-18218749	GM12878	blood:	n/a	chr17:18218363-18218372 chr17:18218361-18218370
21	TAF1	chr17:18217858-18218894	H1-neurons	neurons:	n/a	n/a
22	POLR2A	chr17:18217964-18218437	A549	lung:	n/a	n/a
23	TAL1	chr17:18217834-18218668	K562	blood:	n/a	n/a
24	REST	chr17:18218000-18218371	HepG2	liver:	n/a	n/a
25	YY1	chr17:18217892-18218866	K562	blood:	n/a	chr17:18218622-18218631 chr17:18218617-18218627 chr17:18218826-18218840 chr17:18218609-18218629 chr17:18218610-18218629 chr17:18218422-18218431 chr17:18218605-18218627 chr17:18218616-18218624 chr17:18218618-18218626
26	MXI1	chr17:18217497-18218780	K562	blood:	n/a	n/a
27	SIX5	chr17:18217770-18219196	A549	lung:	n/a	chr17:18218363-18218372 chr17:18218361-18218370
28	ATF3	chr17:18217998-18218975	A549	lung:	n/a	chr17:18218337-18218346 chr17:18218604-18218613 chr17:18218570-18218590
29	ATF1	chr17:18217920-18218777	K562	blood:	n/a	n/a
30	ELF1	chr17:18217936-18219072	A549	lung:	n/a	chr17:18218572-18218583 chr17:18218572-18218581 chr17:18218571-18218584 chr17:18218573-18218582
31	TBL1XR1	chr17:18218031-18218774	K562	blood:	n/a	n/a
32	POLR2A	chr17:18217983-18218874	SK-N-SH	brain:	n/a	n/a
33	TCF7L2	chr17:18217746-18218726	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr17:18218041-18218809	Hela-S3	cervix:	n/a	n/a
35	ELK1	chr17:18217906-18218794	K562	blood:	n/a	n/a
36	TAF1	chr17:18217955-18218870	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr17:18218031-18218901	HUVEC	blood vessel:	n/a	n/a
38	ETS1	chr17:18218009-18218860	GM12878	blood:	n/a	chr17:18218360-18218373 chr17:18218364-18218371 chr17:18218359-18218372
39	ZNF263	chr17:18217733-18218896	HEK293-T-REx	kidney:	n/a	chr17:18218454-18218463
40	POLR2A	chr17:18217976-18218412	HepG2	liver:	n/a	n/a
41	POLR2A	chr17:18217725-18219160	MCF10A-Er-Src	breast:	n/a	n/a
42	NR2C2	chr17:18217899-18218983	Hela-S3	cervix:	n/a	chr17:18218575-18218584
43	MAX	chr17:18217690-18218972	SK-N-SH	brain:	n/a	chr17:18218604-18218613
44	POLR2A	chr17:18217806-18219340	GM18505	blood:	n/a	n/a
45	GTF2B	chr17:18218157-18218642	K562	blood:	n/a	n/a
46	MYC	chr17:18217889-18218680	HUVEC	blood vessel:	n/a	chr17:18218604-18218613
47	CHD2	chr17:18217779-18218872	Hela-S3	cervix:	n/a	n/a
48	GATA3	chr17:18217736-18219016	A549	lung:	n/a	n/a
49	SIN3A	chr17:18217256-18219546	H1-hESC	embryonic stem cell:	n/a	n/a
50	BRCA1	chr17:18217539-18218765	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:18204042..18206073-chr17:18215565..18218215,2	MCF-7	breast:
2	chr17:18086084..18087983-chr17:18217517..18220819,3	MCF-7	breast:
3	chr17:18059834..18062065-chr17:18216789..18219409,3	MCF-7	breast:
4	chr17:18207672..18211933-chr17:18214098..18218432,6	MCF-7	breast:
5	chr17:18185665..18188160-chr17:18215584..18219242,3	MCF-7	breast:
6	chr17:18150730..18153746-chr17:18217976..18219850,3	MCF-7	breast:
7	chr17:18217609..18225680-chr17:18226125..18232187,14	K562	blood:
8	chr17:18159194..18166260-chr17:18215929..18222740,16	MCF-7	breast:
9	chr17:18218070..18218869-chr3:44378799..44379696,2	Hela-S3	cervix:
10	chr17:18217812..18219938-chr17:18264805..18267202,2	MCF-7	breast:
11	chr17:18160366..18162830-chr17:18217207..18220188,2	K562	blood:
12	chr17:18156705..18166530-chr17:18215131..18220177,19	MCF-7	breast:
13	chr17:18127269..18131326-chr17:18216439..18220320,6	MCF-7	breast:

Variant related genes	Relation type
TOP3A	TF binding region
SMCR8	TF binding region
ENSG00000176974	Chromatin interaction
ENSG00000177731	Chromatin interaction
ENSG00000177427	Chromatin interaction
ENSG00000179152	Chromatin interaction
ENSG00000177302	Chromatin interaction
ENSG00000091536	Chromatin interaction
ENSG00000131899	Chromatin interaction
ENSG00000267350	Chromatin interaction
ENSG00000266677	Chromatin interaction
ENSG00000091542	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs11868259	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11870126	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12936652	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12936769	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12937300	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12939092	0.80[EUR][1000 genomes]
rs12939259	1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12939357	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12939757	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12945597	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12946058	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12949078	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12949983	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12952556	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12952667	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1563631	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1563633	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1979276	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1979277	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2230154	1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2273028	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2386456	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2386457	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2386458	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2461837	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs2461838	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs2605142	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2746023	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2746024	0.97[ASN][1000 genomes]
rs28419113	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3764405	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3783	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3794771	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794772	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3829583	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4632181	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4924750	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4924842	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924843	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4924845	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4924847	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4924849	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs4925160	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4925162	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4925163	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4925167	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4925169	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4925171	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4925172	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58215032	0.88[EUR][1000 genomes]
rs643333	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs6502643	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6502644	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6502646	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6502649	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66903818	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7207123	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7207306	0.83[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs7215839	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7222684	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7223122	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8068602	0.86[EUR][1000 genomes]
rs8068854	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8070633	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8071231	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8073464	0.81[EUR][1000 genomes]
rs8074444	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8080966	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs921865	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs921866	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs921986	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs941451	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9898631	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1061162	chr17:17978838-18259234	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
5	nsv833386	chr17:18170261-18332726	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv1057081	chr17:18171516-18256347	Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv543247	chr17:18171516-18256347	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1062368	chr17:18180747-18259234	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv833387	chr17:18200081-18378155	Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	esv1806346	chr17:18200081-18446384	Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
11	esv1812661	chr17:18200081-18446384	Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
12	nsv428333	chr17:18200081-18446384	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
13	nsv427992	chr17:18200081-19192047	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs2273030	SHMT1	cis	Esophagus Muscularis	GTEx
rs2273030	SHMT1	cis	multi-tissue	Pritchard
rs2273030	SHMT1	cis	Muscle Skeletal	GTEx
rs2273030	LLGL1	cis	Esophagus Mucosa	GTEx
rs2273030	SHMT1	cis	Artery Tibial	GTEx
rs2273030	SHMT1	cis	Nerve Tibial	GTEx
rs2273030	ALKBH5	cis	Esophagus Muscularis	GTEx
rs2273030	SHMT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18216400-18218200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr17:18216600-18219600	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr17:18216800-18218800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr17:18216800-18219400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr17:18216800-18219400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr17:18216800-18219400	Active TSS	K562	blood
7	chr17:18216800-18219800	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr17:18216800-18219800	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr17:18217000-18219000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr17:18217000-18219000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr17:18217000-18219200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr17:18217000-18219200	Active TSS	Fetal Kidney	kidney
13	chr17:18217000-18219200	Active TSS	HSMM	muscle
14	chr17:18217200-18218200	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr17:18217200-18219000	Active TSS	HMEC	breast
16	chr17:18217200-18219200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr17:18217200-18219200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr17:18217200-18219200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr17:18217200-18219200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr17:18217200-18219200	Active TSS	Gastric	stomach
21	chr17:18217200-18219200	Active TSS	Lung	lung
22	chr17:18217200-18219200	Active TSS	Right Atrium	heart
23	chr17:18217200-18219400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr17:18217200-18219400	Active TSS	A549	lung
25	chr17:18217200-18219400	Active TSS	NHDF-Ad	bronchial
26	chr17:18217400-18218200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr17:18217400-18218800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr17:18217400-18219000	Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr17:18217400-18219000	Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr17:18217400-18219000	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr17:18217400-18219000	Active TSS	Hela-S3	cervix
32	chr17:18217400-18219200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr17:18217400-18219200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr17:18217400-18219200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr17:18217400-18219200	Active TSS	Right Ventricle	heart
36	chr17:18217400-18219200	Active TSS	Small Intestine	intestine
37	chr17:18217400-18219200	Active TSS	Stomach Mucosa	stomach
38	chr17:18217400-18219200	Bivalent/Poised TSS	HepG2	liver
39	chr17:18217400-18219200	Active TSS	HSMMtube	muscle
40	chr17:18217400-18219200	Active TSS	NHLF	lung
41	chr17:18217400-18219400	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr17:18217400-18219400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr17:18217400-18219400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr17:18217400-18219400	Active TSS	Aorta	Aorta
45	chr17:18217400-18219400	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr17:18217400-18219400	Active TSS	GM12878-XiMat	blood
47	chr17:18217400-18219600	Active TSS	H9 Cell Line	embryonic stem cell
48	chr17:18217400-18219600	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr17:18217400-18219800	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr17:18217400-18219800	Active TSS	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links