Variant report

Variant	rs12706126
Chromosome Location	chr7:116591808-116591809
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	POLR2A	chr7:116591675-116592113	HepG2	liver:	n/a	n/a
2	NFYB	chr7:116591652-116591851	GM12878	blood:	n/a	chr7:116591834-116591849
3	EP300	chr7:116591738-116592090	GM12878	blood:	n/a	n/a
4	ZC3H11A	chr7:116591079-116592177	K562	blood:	n/a	n/a
5	RCOR1	chr7:116591022-116592258	K562	blood:	n/a	n/a
6	GTF2F1	chr7:116591620-116592020	K562	blood:	n/a	n/a
7	CEBPB	chr7:116591782-116592032	HepG2	liver:	n/a	n/a
8	POLR2A	chr7:116591409-116592253	K562	blood:	n/a	n/a
9	POLR2A	chr7:116591798-116592297	HepG2	liver:	n/a	n/a
10	POLR2A	chr7:116590754-116592489	MCF10A-Er-Src	breast:	n/a	n/a
11	ZMIZ1	chr7:116591004-116592177	K562	blood:	n/a	n/a
12	POLR2A	chr7:116591750-116592011	Hela-S3	cervix:	n/a	n/a
13	TBP	chr7:116591069-116592218	K562	blood:	n/a	n/a
14	NFYA	chr7:116591644-116591850	Hela-S3	cervix:	n/a	chr7:116591828-116591846
15	POLR2A	chr7:116591186-116595400	MCF10A-Er-Src	breast:	n/a	n/a
16	MAX	chr7:116591740-116592177	K562	blood:	n/a	n/a
17	UBTF	chr7:116591686-116592201	K562	blood:	n/a	n/a
18	CUX1	chr7:116591115-116592323	K562	blood:	n/a	n/a
19	HCFC1	chr7:116591091-116592493	K562	blood:	n/a	n/a
20	NFYA	chr7:116591322-116592139	K562	blood:	n/a	chr7:116591851-116591869 chr7:116591828-116591846
21	RFX5	chr7:116591569-116591999	HepG2	liver:	n/a	n/a
22	MAFF	chr7:116591040-116592039	K562	blood:	n/a	n/a
23	POLR2A	chr7:116591669-116592222	HepG2	liver:	n/a	n/a
24	POLR2A	chr7:116591612-116592179	K562	blood:	n/a	n/a
25	POLR2A	chr7:116591559-116592217	HepG2	liver:	n/a	n/a
26	ARID3A	chr7:116591226-116592302	K562	blood:	n/a	n/a
27	TAL1	chr7:116591632-116591956	K562	blood:	n/a	n/a
28	E2F6	chr7:116591074-116592144	K562	blood:	n/a	n/a
29	IRF1	chr7:116590928-116595835	K562	blood:	n/a	chr7:116592440-116592452 chr7:116594741-116594753 chr7:116592072-116592093
30	TAF1	chr7:116591678-116592095	K562	blood:	n/a	n/a
31	ARID3A	chr7:116591418-116592150	HepG2	liver:	n/a	n/a
32	PML	chr7:116590996-116592419	K562	blood:	n/a	chr7:116591118-116591127
33	JUND	chr7:116591056-116592242	K562	blood:	n/a	chr7:116591120-116591128 chr7:116591120-116591127 chr7:116591120-116591128
34	HEY1	chr7:116591524-116592249	K562	blood:	n/a	n/a
35	MAZ	chr7:116591079-116592153	K562	blood:	n/a	chr7:116591120-116591129
36	JUN	chr7:116591048-116591950	K562	blood:	n/a	chr7:116591120-116591128 chr7:116591120-116591127 chr7:116591120-116591128
37	POLR2A	chr7:116591120-116592463	K562	blood:	n/a	n/a
38	POLR2A	chr7:116591109-116592228	HepG2	liver:	n/a	n/a
39	CBX3	chr7:116590645-116592251	K562	blood:	n/a	n/a
40	JUN	chr7:116588540-116596631	K562	blood:	n/a	chr7:116591120-116591128 chr7:116591120-116591127 chr7:116596122-116596134 chr7:116596020-116596032 chr7:116596225-116596237 chr7:116591120-116591128
41	TBP	chr7:116591695-116592079	HepG2	liver:	n/a	n/a
42	ZNF384	chr7:116591120-116591955	K562	blood:	n/a	n/a
43	MYC	chr7:116591030-116592164	K562	blood:	n/a	chr7:116591120-116591129
44	NR2F2	chr7:116590991-116592193	K562	blood:	n/a	n/a
45	TAF1	chr7:116591587-116592200	K562	blood:	n/a	n/a
46	POLR2A	chr7:116591802-116592227	PANC-1	pancreas:	n/a	n/a
47	POLR2A	chr7:116591488-116592402	K562	blood:	n/a	n/a
48	HEY1	chr7:116591457-116592190	K562	blood:	n/a	n/a
49	NFYB	chr7:116591643-116591933	Hela-S3	cervix:	n/a	chr7:116591834-116591849
50	ELF1	chr7:116590652-116592068	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:116515467..116517553-chr7:116591140..116593900,3	K562	blood:
2	chr7:116589849..116592788-chr7:116643834..116645467,2	K562	blood:
3	chr7:116589852..116592441-chr7:116629486..116632404,2	K562	blood:
4	chr7:116591034..116595853-chr7:116650615..116657201,10	K562	blood:
5	chr7:116589933..116591821-chr7:116618014..116619931,2	K562	blood:
6	chr7:116591613..116593469-chr7:116756690..116759976,4	K562	blood:
7	chr7:116591200..116595164-chr7:116659811..116663168,5	K562	blood:
8	chr7:116590784..116596766-chr7:116599392..116609813,21	MCF-7	breast:
9	chr7:116502166..116506934-chr7:116591377..116594260,5	MCF-7	breast:
10	chr7:116589691..116599368-chr7:116647062..116658963,30	K562	blood:
11	chr7:116515300..116517420-chr7:116591402..116594078,3	K562	blood:

Variant related genes	Relation type
ST7	TF binding region
ST7-OT4	TF binding region
ENSG00000004866	Chromatin interaction
ENSG00000235945	Chromatin interaction
ENSG00000198898	Chromatin interaction
ENSG00000228368	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11762032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11764134	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11765198	0.93[CEU][hapmap];0.91[EUR][1000 genomes]
rs11773591	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12706124	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12706125	0.86[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12706127	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12706134	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12706135	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12706136	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12706137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12706138	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs12706139	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs12706140	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12706141	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12706143	1.00[CHB][hapmap]
rs12706144	1.00[CHB][hapmap]
rs13222576	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13224314	1.00[CHB][hapmap]
rs13235739	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13239447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13243111	0.86[EUR][1000 genomes]
rs13308921	1.00[CHB][hapmap]
rs2188693	1.00[CHB][hapmap]
rs34042687	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3808218	1.00[CHB][hapmap]
rs3808222	1.00[CHB][hapmap]
rs66758829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71544773	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv889074	chr7:116552859-116604194	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv889075	chr7:116552859-116610237	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv889073	chr7:116552859-116611113	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116570800-116592800	Weak transcription	Right Atrium	heart
2	chr7:116583000-116593000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:116589000-116592800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:116589200-116592200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:116589400-116592600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:116589400-116592800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:116589600-116592800	Weak transcription	Pancreas	Pancrea
8	chr7:116589600-116592800	Weak transcription	Stomach Mucosa	stomach
9	chr7:116589600-116593000	Weak transcription	Gastric	stomach
10	chr7:116590000-116592200	Weak transcription	Fetal Lung	lung
11	chr7:116590000-116592800	Weak transcription	Aorta	Aorta
12	chr7:116590000-116592800	Weak transcription	Right Ventricle	heart
13	chr7:116590400-116592000	Enhancers	Fetal Heart	heart
14	chr7:116590400-116592800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:116590400-116592800	Weak transcription	Left Ventricle	heart
16	chr7:116590800-116592800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr7:116591000-116592800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr7:116591000-116593200	Flanking Active TSS	K562	blood
19	chr7:116591600-116592200	Enhancers	Fetal Intestine Large	intestine
20	chr7:116591600-116592600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:116591600-116592600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr7:116591600-116592600	Enhancers	A549	lung
23	chr7:116591600-116592800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr7:116591800-116592000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:116591800-116592200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr7:116591800-116592200	Active TSS	Muscle Satellite Cultured Cells	--
27	chr7:116591800-116592200	Flanking Active TSS	Fetal Intestine Small	intestine
28	chr7:116591800-116592400	Active TSS	Rectal Smooth Muscle	rectum
29	chr7:116591800-116592600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr7:116591800-116592600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:116591800-116592800	Enhancers	H9 Cell Line	embryonic stem cell
32	chr7:116591800-116592800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:116591800-116592800	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr7:116591800-116592800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:116591800-116592800	Active TSS	Adipose Nuclei	Adipose
36	chr7:116591800-116592800	Active TSS	Duodenum Mucosa	Duodenum
37	chr7:116591800-116592800	Enhancers	Fetal Muscle Leg	muscle
38	chr7:116591800-116592800	Active TSS	Placenta	Placenta
39	chr7:116591800-116592800	Weak transcription	Lung	lung
40	chr7:116591800-116592800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr7:116591800-116592800	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr7:116591800-116592800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr7:116591800-116592800	Flanking Active TSS	Hela-S3	cervix
44	chr7:116591800-116592800	Active TSS	HepG2	liver
45	chr7:116591800-116594600	Active TSS	Esophagus	oesophagus

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