Variant report

Variant	rs28364628
Chromosome Location	chr17:18163262-18163263
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	MAX	chr17:18162938-18164957	Hela-S3	cervix:	n/a	chr17:18164010-18164020
2	BRCA1	chr17:18163000-18164781	Hela-S3	cervix:	n/a	n/a
3	MYC	chr17:18162963-18164203	MCF10A-Er-Src	breast:	n/a	chr17:18164010-18164020
4	MAX	chr17:18163025-18164761	NB4	blood:	n/a	chr17:18164010-18164020
5	MYC	chr17:18163001-18163353	MCF10A-Er-Src	breast:	n/a	n/a
6	RCOR1	chr17:18162901-18164918	Hela-S3	cervix:	n/a	n/a
7	TEAD4	chr17:18162897-18164348	ECC-1	luminal epithelium:	n/a	n/a
8	TCF12	chr17:18162902-18165013	ECC-1	luminal epithelium:	n/a	n/a
9	FOS	chr17:18162974-18163406	MCF10A-Er-Src	breast:	n/a	n/a
10	MAX	chr17:18162896-18165104	A549	lung:	n/a	chr17:18164010-18164020
11	MAX	chr17:18162954-18164982	ECC-1	luminal epithelium:	n/a	chr17:18164010-18164020
12	SP1	chr17:18162847-18165044	HCT-116	colon:	n/a	chr17:18163818-18163839 chr17:18164204-18164218 chr17:18163810-18163822 chr17:18163812-18163821 chr17:18164125-18164137 chr17:18164125-18164137 chr17:18164126-18164136 chr17:18163778-18163787 chr17:18163811-18163820 chr17:18163807-18163821 chr17:18164126-18164136 chr17:18163810-18163822 chr17:18164159-18164168
13	POLR2A	chr17:18162881-18164958	Hela-S3	cervix:	n/a	n/a
14	MAX	chr17:18162901-18165049	ECC-1	luminal epithelium:	n/a	chr17:18164010-18164020
15	RFX5	chr17:18162977-18164906	Hela-S3	cervix:	n/a	chr17:18164719-18164733 chr17:18164718-18164734 chr17:18164723-18164732
16	MAX	chr17:18162989-18164476	HepG2	liver:	n/a	chr17:18164010-18164020
17	ZBTB7A	chr17:18163211-18164481	ECC-1	luminal epithelium:	n/a	n/a
18	MAX	chr17:18162931-18164952	Hela-S3	cervix:	n/a	chr17:18164010-18164020
19	FOSL2	chr17:18162959-18164148	A549	lung:	n/a	chr17:18163810-18163819 chr17:18164068-18164077
20	MAFK	chr17:18163087-18164833	Hela-S3	cervix:	n/a	chr17:18164208-18164223
21	FOS	chr17:18162941-18163756	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr17:18162921-18163892	MCF10A-Er-Src	breast:	n/a	chr17:18163810-18163819
23	POLR2A	chr17:18163205-18163385	MCF10A-Er-Src	breast:	n/a	n/a
24	TFAP2C	chr17:18163048-18165130	Hela-S3	cervix:	n/a	n/a
25	ZBTB7A	chr17:18163148-18164551	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr17:18162896-18164551	HepG2	liver:	n/a	n/a
27	CEBPB	chr17:18162935-18164041	Hela-S3	cervix:	n/a	chr17:18163829-18163837
28	ZEB1	chr17:18163261-18164494	GM12878	blood:	n/a	chr17:18163530-18163542
29	CHD2	chr17:18162965-18164910	Hela-S3	cervix:	n/a	n/a
30	MAZ	chr17:18163098-18165279	Hela-S3	cervix:	n/a	chr17:18164010-18164020
31	TBP	chr17:18162947-18164096	Hela-S3	cervix:	n/a	n/a
32	FOS	chr17:18162998-18163319	MCF10A-Er-Src	breast:	n/a	n/a
33	TEAD4	chr17:18162936-18164247	ECC-1	luminal epithelium:	n/a	n/a
34	MYC	chr17:18163028-18164601	K562	blood:	n/a	chr17:18164010-18164020
35	MAX	chr17:18162996-18163264	K562	blood:	n/a	n/a
36	JUND	chr17:18163023-18164855	K562	blood:	n/a	chr17:18164676-18164684 chr17:18164674-18164686 chr17:18163810-18163819 chr17:18164068-18164077
37	ZNF143	chr17:18163202-18164580	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr17:18162952-18163298	HCT-116	colon:	n/a	n/a
39	SMC3	chr17:18162962-18165033	Hela-S3	cervix:	n/a	n/a
40	TCF7L2	chr17:18162934-18164906	Hela-S3	cervix:	n/a	n/a
41	SIN3A	chr17:18163254-18164952	H1-hESC	embryonic stem cell:	n/a	chr17:18164272-18164283 chr17:18163925-18163938 chr17:18164065-18164076 chr17:18164200-18164213
42	RFX5	chr17:18163098-18164099	HepG2	liver:	n/a	n/a
43	POLR2A	chr17:18163160-18164749	H1-hESC	embryonic stem cell:	n/a	n/a
44	STAT3	chr17:18162984-18163353	MCF10A-Er-Src	breast:	n/a	n/a
45	TFAP2A	chr17:18163110-18165072	Hela-S3	cervix:	n/a	chr17:18163930-18163942 chr17:18163930-18163942 chr17:18163930-18163942 chr17:18164887-18164898 chr17:18163930-18163942 chr17:18164887-18164899 chr17:18164675-18164684 chr17:18164887-18164898 chr17:18163933-18163941 chr17:18163933-18163941 chr17:18163518-18163530 chr17:18163933-18163941
46	MAZ	chr17:18163177-18164726	HepG2	liver:	n/a	chr17:18164010-18164020
47	SMARCB1	chr17:18163124-18165026	Hela-S3	cervix:	n/a	chr17:18164676-18164685
48	GTF3C2	chr17:18162818-18163741	Hela-S3	cervix:	n/a	n/a
49	JUND	chr17:18163097-18164919	H1-hESC	embryonic stem cell:	n/a	chr17:18164676-18164684 chr17:18164674-18164686 chr17:18163810-18163819 chr17:18164068-18164077
50	KAP1	chr17:18163235-18164066	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:18085197..18089449-chr17:18160313..18164902,6	K562	blood:
2	chr17:18086297..18088229-chr17:18161732..18163616,2	MCF-7	breast:
3	chr17:18127100..18135567-chr17:18158023..18168767,25	MCF-7	breast:
4	chr17:18156705..18166530-chr17:18215131..18220177,19	MCF-7	breast:
5	chr17:18161909..18165526-chr17:18209408..18212171,3	MCF-7	breast:
6	chr17:18126073..18132705-chr17:18158327..18165323,14	MCF-7	breast:
7	chr17:18162871..18165268-chr17:18208056..18210567,2	MCF-7	breast:
8	chr17:18127671..18130325-chr17:18161981..18165246,3	K562	blood:
9	chr17:18159194..18166260-chr17:18215929..18222740,16	MCF-7	breast:

Variant related genes	Relation type
MIEF2	TF binding region
FLII	TF binding region
ENSG00000237382	Chromatin interaction
ENSG00000131899	Chromatin interaction
ENSG00000228000	Chromatin interaction
ENSG00000177302	Chromatin interaction
ENSG00000176994	Chromatin interaction
ENSG00000266677	Chromatin interaction
ENSG00000091542	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs11078411	0.90[GIH][hapmap]
rs11078412	0.90[GIH][hapmap]
rs11078415	0.89[AFR][1000 genomes]
rs11655588	0.90[GIH][hapmap]
rs11658477	0.96[GIH][hapmap]
rs11867855	0.81[AMR][1000 genomes]
rs11867895	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11868708	0.94[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11869515	0.86[AFR][1000 genomes]
rs11869582	0.88[CEU][hapmap]
rs11869952	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11872031	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12449313	1.00[ASW][hapmap];0.94[CEU][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.96[LWK][hapmap];0.94[MEX][hapmap];0.98[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12451555	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12451698	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12451807	0.86[AFR][1000 genomes]
rs12600694	0.87[GIH][hapmap]
rs12939851	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13284	0.90[GIH][hapmap]
rs1563371	0.90[GIH][hapmap]
rs16960980	0.90[GIH][hapmap]
rs16960983	0.90[GIH][hapmap]
rs16960986	0.90[GIH][hapmap]
rs16960990	0.90[GIH][hapmap]
rs16961114	1.00[CEU][hapmap];0.87[CHB][hapmap];0.92[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16961133	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16961153	1.00[ASW][hapmap];0.94[CEU][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.96[LWK][hapmap];0.94[MEX][hapmap];0.98[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1925	0.94[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1962949	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1962950	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2015336	0.90[GIH][hapmap]
rs2071242	0.92[ASW][hapmap];0.94[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.89[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2273029	0.94[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2290502	0.89[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];0.85[TSI][hapmap];0.93[YRI][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2290503	0.89[CEU][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2290504	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2290505	1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2294913	1.00[ASW][hapmap];0.94[CEU][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.96[LWK][hapmap];0.94[MEX][hapmap];0.98[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3088233	0.90[GIH][hapmap]
rs35738574	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3817992	1.00[ASW][hapmap];0.94[CEU][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.83[JPT][hapmap];0.96[LWK][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3829956	1.00[ASW][hapmap];0.94[CEU][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.96[LWK][hapmap];0.94[MEX][hapmap];0.98[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3862147	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3889544	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4386179	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4450455	0.94[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4500798	0.88[CHB][hapmap];0.92[JPT][hapmap]
rs4556848	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4925151	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4925177	0.84[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap]
rs57490980	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57697650	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59366579	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62072507	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62072509	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62072511	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62072515	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62072537	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62072540	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62072541	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6502640	0.90[GIH][hapmap]
rs7211573	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7215678	0.94[CEU][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7405677	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7498	0.84[CEU][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8065026	0.96[GIH][hapmap]
rs8077577	0.90[GIH][hapmap]
rs8081042	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8081155	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8081343	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9901160	0.88[CHB][hapmap];0.82[CHD][hapmap]
rs9909104	0.84[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.88[MEX][hapmap]
rs9910090	0.84[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap]
rs9913139	0.89[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9913266	0.88[JPT][hapmap]

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	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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	123 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	nsv907773	chr17:18099962-18206234	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv907774	chr17:18103907-18206234	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv907775	chr17:18108496-18206234	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv543246	chr17:18121007-18165604	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
10	nsv9503	chr17:18121474-18169166	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
11	nsv907776	chr17:18122485-18170948	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
12	nsv1066718	chr17:18125122-18180807	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv907777	chr17:18131087-18163262	Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs28364628	FLII	cis	cerebellum	SCAN
rs28364628	SHMT1	cis	lymphoblastoid	seeQTL
rs28364628	LOC162632	cis	parietal	SCAN
rs28364628	FLII	cis	parietal	SCAN
rs28364628	TRPV2	cis	cerebellum	SCAN
rs28364628	LOC162632	cis	cerebellum	SCAN
rs28364628	PLD6	cis	cerebellum	SCAN
rs28364628	PIGL	cis	parietal	SCAN
rs28364628	SHMT1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18160800-18165000	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr17:18160800-18165200	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr17:18161000-18163400	Active TSS	Rectal Smooth Muscle	rectum
4	chr17:18161600-18164200	Enhancers	Fetal Brain Male	brain
5	chr17:18161600-18164400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr17:18162000-18163400	Active TSS	Brain Germinal Matrix	brain
7	chr17:18162400-18163400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr17:18162400-18163400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr17:18162400-18163400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr17:18162400-18163400	Enhancers	Colon Smooth Muscle	Colon
11	chr17:18162400-18163400	Weak transcription	Fetal Kidney	kidney
12	chr17:18162400-18163400	Enhancers	Placenta	Placenta
13	chr17:18162400-18163400	Enhancers	Lung	lung
14	chr17:18162400-18163400	Weak transcription	Right Atrium	heart
15	chr17:18162400-18163400	Enhancers	Stomach Mucosa	stomach
16	chr17:18162400-18163600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr17:18162400-18163600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr17:18162400-18163600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr17:18162400-18163600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr17:18162400-18163600	Weak transcription	Aorta	Aorta
21	chr17:18162400-18163600	Enhancers	Liver	Liver
22	chr17:18162400-18163800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr17:18162400-18163800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr17:18162400-18163800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr17:18162400-18163800	Enhancers	Spleen	Spleen
26	chr17:18162600-18163400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr17:18162600-18163400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr17:18162600-18163400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr17:18162600-18163400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr17:18162600-18163400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr17:18162600-18163400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr17:18162600-18163400	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr17:18162600-18163400	Enhancers	Primary B cells from cord blood	blood
34	chr17:18162600-18163400	Enhancers	Primary B cells from peripheral blood	blood
35	chr17:18162600-18163400	Enhancers	Primary T cells fromperipheralblood	blood
36	chr17:18162600-18163400	Enhancers	Primary hematopoietic stem cells	blood
37	chr17:18162600-18163400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr17:18162600-18163400	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr17:18162600-18163400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr17:18162600-18163400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr17:18162600-18163400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr17:18162600-18163400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr17:18162600-18163400	Enhancers	Muscle Satellite Cultured Cells	--
44	chr17:18162600-18163400	Enhancers	Adipose Nuclei	Adipose
45	chr17:18162600-18163400	Enhancers	Brain Angular Gyrus	brain
46	chr17:18162600-18163400	Enhancers	Brain Anterior Caudate	brain
47	chr17:18162600-18163400	Enhancers	Brain Cingulate Gyrus	brain
48	chr17:18162600-18163400	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr17:18162600-18163400	Enhancers	Brain Substantia Nigra	brain
50	chr17:18162600-18163400	Enhancers	Colonic Mucosa	Colon

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