Variant report

Variant	rs3212160
Chromosome Location	chr7:80273308-80273309
allele	A/C
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	TCF12	chr7:80272691-80273827	ECC-1	luminal epithelium:	n/a	n/a
2	ESR1	chr7:80273278-80273757	ECC-1	luminal epithelium:	n/a	n/a
3	ZNF217	chr7:80272853-80273438	MCF-7	breast:	n/a	n/a
4	TEAD4	chr7:80272862-80273394	MCF-7	breast:	n/a	n/a
5	NFIC	chr7:80272735-80273963	ECC-1	luminal epithelium:	n/a	n/a
6	EP300	chr7:80272799-80273359	MCF-7	breast:	n/a	n/a
7	NR3C1	chr7:80273278-80273732	ECC-1	luminal epithelium:	n/a	n/a
8	ELF1	chr7:80272765-80273397	MCF-7	breast:	n/a	chr7:80272914-80272925
9	FOXM1	chr7:80272677-80274021	ECC-1	luminal epithelium:	n/a	n/a
10	MAX	chr7:80273255-80273782	ECC-1	luminal epithelium:	n/a	n/a
11	GATA3	chr7:80272843-80273486	MCF-7	breast:	n/a	chr7:80273297-80273313
12	TCF7L2	chr7:80272912-80273387	MCF-7	breast:	n/a	n/a
13	TEAD4	chr7:80272755-80273806	ECC-1	luminal epithelium:	n/a	chr7:80272797-80272806
14	SIN3AK20	chr7:80272716-80273545	MCF-7	breast:	n/a	n/a
15	ESR1	chr7:80273183-80273762	ECC-1	luminal epithelium:	n/a	n/a
16	NFIC	chr7:80273170-80273816	ECC-1	luminal epithelium:	n/a	n/a
17	HDAC2	chr7:80272924-80273365	MCF-7	breast:	n/a	n/a
18	FOXM1	chr7:80272717-80273527	MCF-7	breast:	n/a	n/a
19	ESR1	chr7:80273228-80273800	ECC-1	luminal epithelium:	n/a	n/a
20	SRF	chr7:80273263-80273808	ECC-1	luminal epithelium:	n/a	n/a
21	TEAD4	chr7:80272813-80273959	ECC-1	luminal epithelium:	n/a	n/a
22	GATA3	chr7:80272769-80273314	T-47D	breast:	n/a	chr7:80273297-80273313
23	GATA1	chr7:80272323-80273659	PBDE	blood:	n/a	chr7:80273297-80273313 chr7:80272725-80272742
24	CEBPB	chr7:80272790-80273832	ECC-1	luminal epithelium:	n/a	n/a
25	NR2F2	chr7:80272863-80273336	MCF-7	breast:	n/a	n/a
26	GATA3	chr7:80272486-80273693	MCF-7	breast:	n/a	chr7:80273297-80273313 chr7:80272725-80272742
27	CEBPB	chr7:80272830-80273384	MCF-7	breast:	n/a	n/a
28	FOXM1	chr7:80272631-80274017	ECC-1	luminal epithelium:	n/a	n/a
29	EP300	chr7:80272705-80274027	ECC-1	luminal epithelium:	n/a	chr7:80273947-80273961
30	TEAD4	chr7:80272907-80273322	MCF-7	breast:	n/a	n/a
31	NR2F2	chr7:80272729-80273402	MCF-7	breast:	n/a	n/a
32	TCF12	chr7:80273165-80273822	ECC-1	luminal epithelium:	n/a	n/a
33	JUND	chr7:80272759-80273400	MCF-7	breast:	n/a	n/a
34	EP300	chr7:80272852-80273950	ECC-1	luminal epithelium:	n/a	n/a
35	POLR2A	chr7:80272607-80273366	SK-N-MC	brain:	n/a	n/a

Variant related genes	Relation type
CD36	TF binding region

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10480808	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1049654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10499859	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1054516	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs1054517	0.83[EUR][1000 genomes]
rs11770358	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11770907	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11771152	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1194177	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1194178	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1194179	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1194182	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12706912	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs13233631	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13236689	0.88[CEU][hapmap]
rs13438282	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1358337	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1413661	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1527479	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1537477	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17154155	0.85[CEU][hapmap]
rs1722502	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1722505	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1761661	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1761662	0.96[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1761665	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1761667	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1953298	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1953299	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2366855	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3211821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3211839	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3211842	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs3211849	0.92[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3211870	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs3211885	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs4316098	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4545029	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4626520	0.97[EUR][1000 genomes]
rs4728183	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4731642	0.80[CEU][hapmap]
rs4731643	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6961024	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6961069	0.87[ASN][1000 genomes]
rs7807607	0.92[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs819435	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs819436	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs819437	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking 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 target site	20 gene(s)	inside rSNPs	diseases
2	nsv831043	chr7:80119414-80322092	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv948605	chr7:80119690-80298887	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1020682	chr7:80120651-80297697	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv464606	chr7:80177084-80311794	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv607682	chr7:80177084-80311794	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1026688	chr7:80231657-80307236	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
8	nsv1020745	chr7:80231657-80309495	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
9	nsv888526	chr7:80240943-80354229	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv888527	chr7:80248029-80279460	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv888528	chr7:80252518-80280117	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv888529	chr7:80252518-80295701	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1027411	chr7:80256255-80276756	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1032295	chr7:80256738-80276756	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	esv2761341	chr7:80256738-80276768	Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv888530	chr7:80258564-80279460	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv888531	chr7:80258564-80280117	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv888532	chr7:80258564-80282636	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
19	nsv464607	chr7:80262830-80288854	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
20	nsv607683	chr7:80262830-80288854	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	nsv888533	chr7:80272568-80289765	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80260400-80273400	Weak transcription	Small Intestine	intestine
2	chr7:80269400-80305000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:80270600-80274000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr7:80271200-80274200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:80271400-80275400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:80272000-80280400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:80272200-80273600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:80272200-80274200	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr7:80272200-80274200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr7:80272400-80273800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr7:80272600-80273600	Enhancers	NHEK	skin
12	chr7:80272600-80273800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:80272600-80274200	Active TSS	Right Atrium	heart
14	chr7:80272600-80275400	Weak transcription	Liver	Liver
15	chr7:80272600-80293600	Weak transcription	Placenta	Placenta
16	chr7:80272800-80273400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr7:80272800-80273400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr7:80272800-80273400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr7:80272800-80273400	Enhancers	HSMM	muscle
20	chr7:80272800-80273600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:80272800-80273600	Enhancers	Right Ventricle	heart
22	chr7:80272800-80282600	Weak transcription	Fetal Heart	heart
23	chr7:80273000-80275400	Weak transcription	Fetal Intestine Small	intestine
24	chr7:80273000-80275400	Weak transcription	Left Ventricle	heart
25	chr7:80273000-80275600	Weak transcription	HepG2	liver
26	chr7:80273200-80273400	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr7:80273200-80273400	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr7:80273200-80274200	Genic enhancers	Primary monocytes fromperipheralblood	blood
29	chr7:80273200-80275200	Weak transcription	NHDF-Ad	bronchial
30	chr7:80273200-80275800	Weak transcription	Psoas Muscle	Psoas

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