Variant report

Variant	rs6950982
Chromosome Location	chr7:100766603-100766604
allele	A/G
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	TBP	chr7:100766522-100766886	HepG2	liver:	n/a	n/a
2	EP300	chr7:100766427-100766959	HepG2	liver:	n/a	n/a
3	BHLHE40	chr7:100766603-100766845	HepG2	liver:	n/a	n/a
4	MYBL2	chr7:100766358-100767030	HepG2	liver:	n/a	n/a
5	HNF4G	chr7:100766531-100766919	HepG2	liver:	n/a	chr7:100766613-100766628 chr7:100766614-100766622 chr7:100766613-100766628
6	CEBPD	chr7:100766545-100766948	HepG2	liver:	n/a	n/a
7	HDAC2	chr7:100766590-100766901	HepG2	liver:	n/a	n/a
8	POLR2A	chr7:100764785-100768279	HepG2	liver:	n/a	n/a
9	RCOR1	chr7:100764764-100767326	IMR90	lung:	n/a	n/a
10	MAZ	chr7:100766553-100766768	HepG2	liver:	n/a	n/a
11	HNF4A	chr7:100766504-100766845	HepG2	liver:	n/a	chr7:100766613-100766628 chr7:100766614-100766622 chr7:100766613-100766628
12	CEBPB	chr7:100766601-100766958	HepG2	liver:	n/a	chr7:100766762-100766773
13	MAX	chr7:100765090-100767024	HepG2	liver:	n/a	chr7:100766178-100766187 chr7:100766179-100766186 chr7:100766177-100766187 chr7:100765933-100765942
14	POLR2A	chr7:100766553-100767395	IMR90	lung:	n/a	n/a
15	JUN	chr7:100765109-100766835	K562	blood:	n/a	chr7:100766059-100766070
16	CEBPB	chr7:100766581-100766977	HepG2	liver:	n/a	chr7:100766762-100766773
17	JUND	chr7:100764966-100767326	SK-N-SH	brain:	n/a	chr7:100766059-100766070
18	POLR2A	chr7:100766579-100766754	HepG2	liver:	n/a	n/a
19	RAD21	chr7:100766522-100766871	HepG2	liver:	n/a	n/a
20	HDAC2	chr7:100766556-100766938	HepG2	liver:	n/a	n/a
21	POLR2A	chr7:100765134-100767316	HepG2	liver:	n/a	n/a
22	CEBPB	chr7:100766587-100766936	HepG2	liver:	n/a	chr7:100766762-100766773
23	MAZ	chr7:100765026-100766856	IMR90	lung:	n/a	chr7:100766178-100766187 chr7:100766179-100766186 chr7:100766177-100766187 chr7:100765933-100765942
24	POLR2A	chr7:100765178-100766907	HepG2	liver:	n/a	n/a
25	MYBL2	chr7:100766312-100767023	HepG2	liver:	n/a	n/a
26	HCFC1	chr7:100764633-100766666	Hela-S3	cervix:	n/a	n/a
27	CEBPD	chr7:100766583-100766905	HepG2	liver:	n/a	n/a
28	CHD1	chr7:100765029-100767228	IMR90	lung:	n/a	n/a
29	HEY1	chr7:100766506-100766779	HepG2	liver:	n/a	n/a
30	MBD4	chr7:100766240-100766925	HepG2	liver:	n/a	n/a
31	SP1	chr7:100766456-100766999	HepG2	liver:	n/a	chr7:100766631-100766645
32	POLR2A	chr7:100765177-100767330	HepG2	liver:	n/a	n/a
33	POLR2A	chr7:100766536-100766870	HepG2	liver:	n/a	n/a
34	HEY1	chr7:100765071-100767324	HepG2	liver:	n/a	n/a
35	FOXA1	chr7:100766490-100766919	HepG2	liver:	n/a	n/a
36	POLR2A	chr7:100766422-100766880	HepG2	liver:	n/a	n/a
37	TEAD4	chr7:100766367-100766964	HepG2	liver:	n/a	chr7:100766690-100766699
38	POLR2A	chr7:100766598-100766805	HUVEC	blood vessel:	n/a	n/a
39	HNF4A	chr7:100766521-100766845	HepG2	liver:	n/a	chr7:100766613-100766628 chr7:100766614-100766622 chr7:100766613-100766628
40	POLR2A	chr7:100766546-100766953	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr7:100766415-100766824	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:100761869..100763568-chr7:100766279..100768842,3	K562	blood:
2	chr7:100755368..100757885-chr7:100766131..100768101,2	K562	blood:
3	chr7:100759553..100761801-chr7:100764388..100767111,2	K562	blood:
4	chr7:100764835..100766607-chr7:100766723..100768897,2	MCF-7	breast:
5	chr7:100764510..100767354-chr7:100769869..100771575,2	MCF-7	breast:
6	chr7:100737222..100740106-chr7:100764516..100767197,2	K562	blood:

Variant related genes	Relation type
SERPINE1	TF binding region
ENSG00000106366	Chromatin interaction
ENSG00000260336	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12530725	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12530730	0.87[EUR][1000 genomes]
rs12535610	0.95[AFR][1000 genomes]
rs12536798	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12538402	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34144144	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34772825	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35532237	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35664038	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35799997	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36093166	0.95[AFR][1000 genomes]
rs3890122	0.82[ASN][1000 genomes]
rs4727479	0.90[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4729659	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4729661	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4729662	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4729663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4729664	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs62483748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6465783	0.83[LWK][hapmap]
rs6945281	0.83[AFR][1000 genomes]
rs6948536	0.84[ASW][hapmap];1.00[LWK][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap]
rs6951404	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6955537	0.90[CEU][hapmap];0.80[CHD][hapmap];0.90[GIH][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6956010	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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]
rs757722	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7783913	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7784462	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7784489	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7784514	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7790022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031942	chr7:100606734-100788660	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv1833777	chr7:100632790-100800131	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1033081	chr7:100669629-100771824	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription 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 target site	32 gene(s)	inside rSNPs	diseases
4	nsv831075	chr7:100692297-100917018	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
6	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
7	nsv464649	chr7:100739682-100810983	Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv607972	chr7:100739682-100810983	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS 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	39 gene(s)	inside rSNPs	diseases
9	esv2422376	chr7:100743485-101016471	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers 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	63 gene(s)	inside rSNPs	diseases
10	nsv1018841	chr7:100760410-100868299	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6950982	TAF6	cis	cerebellum	SCAN
rs6950982	ZNF789	cis	parietal	SCAN

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100757600-100770400	Enhancers	Placenta	Placenta
2	chr7:100761800-100770400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:100762200-100770200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:100763200-100770200	Enhancers	Lung	lung
5	chr7:100763800-100768800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:100764600-100766800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:100765200-100767400	Enhancers	Spleen	Spleen
8	chr7:100765200-100767400	Flanking Active TSS	HepG2	liver
9	chr7:100765200-100767800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:100765600-100766800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:100765600-100766800	Flanking Active TSS	Fetal Heart	heart
12	chr7:100765600-100769400	Weak transcription	Pancreas	Pancrea
13	chr7:100765800-100766800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:100765800-100766800	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr7:100765800-100768800	Weak transcription	Esophagus	oesophagus
16	chr7:100766000-100766800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:100766000-100766800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:100766000-100766800	Enhancers	Colonic Mucosa	Colon
19	chr7:100766000-100766800	Bivalent Enhancer	Fetal Intestine Small	intestine
20	chr7:100766000-100766800	Enhancers	Left Ventricle	heart
21	chr7:100766000-100766800	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr7:100766000-100767200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:100766000-100767200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr7:100766000-100767600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr7:100766000-100767800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr7:100766000-100767800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:100766000-100767800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:100766000-100768800	Enhancers	Fetal Stomach	stomach
29	chr7:100766000-100769400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr7:100766000-100769800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr7:100766000-100769800	Enhancers	Ovary	ovary
32	chr7:100766000-100770000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:100766000-100770000	Enhancers	NHLF	lung
34	chr7:100766000-100770200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr7:100766000-100770400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:100766200-100766800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr7:100766200-100767000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:100766200-100767000	Enhancers	Osteobl	bone
39	chr7:100766200-100767200	Enhancers	Right Atrium	heart
40	chr7:100766200-100767600	Weak transcription	NHEK	skin
41	chr7:100766200-100767800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:100766200-100767800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:100766200-100767800	Enhancers	A549	lung
44	chr7:100766200-100767800	Weak transcription	HMEC	breast
45	chr7:100766200-100768000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr7:100766200-100768000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr7:100766200-100768000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr7:100766200-100768200	Enhancers	Muscle Satellite Cultured Cells	--
49	chr7:100766200-100768800	Enhancers	Hela-S3	cervix
50	chr7:100766200-100769400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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