Variant report

Variant	rs7726769
Chromosome Location	chr5:150950455-150950456
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	POLR2A	chr5:150949609-150951629	ECC-1	luminal epithelium:	n/a	n/a
2	TEAD4	chr5:150950081-150950462	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr5:150949934-150951424	ECC-1	luminal epithelium:	n/a	chr5:150950813-150950822
4	NFIC	chr5:150948291-150951634	ECC-1	luminal epithelium:	n/a	n/a
5	ZNF217	chr5:150950120-150950501	MCF-7	breast:	n/a	n/a
6	NFIC	chr5:150948263-150950666	ECC-1	luminal epithelium:	n/a	n/a
7	FOXM1	chr5:150949683-150950669	ECC-1	luminal epithelium:	n/a	n/a
8	YY1	chr5:150950127-150950484	H1-hESC	embryonic stem cell:	n/a	n/a
9	SP1	chr5:150950004-150950606	H1-hESC	embryonic stem cell:	n/a	chr5:150950169-150950178 chr5:150950150-150950164
10	POLR2A	chr5:150950412-150950697	H1-hESC	embryonic stem cell:	n/a	n/a
11	REST	chr5:150950123-150950484	ECC-1	luminal epithelium:	n/a	n/a
12	TEAD4	chr5:150949663-150950556	ECC-1	luminal epithelium:	n/a	n/a
13	MAX	chr5:150950086-150950517	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr5:150948108-150950740	ECC-1	luminal epithelium:	n/a	n/a
15	YY1	chr5:150949955-150950571	H1-hESC	embryonic stem cell:	n/a	n/a
16	YY1	chr5:150950014-150950536	ECC-1	luminal epithelium:	n/a	n/a
17	RAD21	chr5:150950013-150950541	ECC-1	luminal epithelium:	n/a	n/a
18	SP1	chr5:150949694-150950695	HCT-116	colon:	n/a	chr5:150950169-150950178 chr5:150950150-150950164
19	MAX	chr5:150949571-150951459	ECC-1	luminal epithelium:	n/a	chr5:150950813-150950822 chr5:150949823-150949832
20	TEAD4	chr5:150949603-150950635	ECC-1	luminal epithelium:	n/a	n/a
21	TCF12	chr5:150948287-150951635	ECC-1	luminal epithelium:	n/a	chr5:150950155-150950165 chr5:150951194-150951201
22	EP300	chr5:150949921-150950578	ECC-1	luminal epithelium:	n/a	n/a
23	TCF12	chr5:150949513-150950738	ECC-1	luminal epithelium:	n/a	chr5:150950155-150950165
24	EP300	chr5:150948268-150951579	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr5:150950113-150950470	HCT-116	colon:	n/a	n/a
26	YY1	chr5:150950017-150950540	ECC-1	luminal epithelium:	n/a	n/a
27	CHD2	chr5:150950126-150950508	H1-hESC	embryonic stem cell:	n/a	n/a
28	SP1	chr5:150950065-150950486	H1-hESC	embryonic stem cell:	n/a	chr5:150950169-150950178 chr5:150950150-150950164
29	E2F6	chr5:150950195-150950982	H1-hESC	embryonic stem cell:	n/a	chr5:150950687-150950694 chr5:150950687-150950694 chr5:150950686-150950695 chr5:150950687-150950694 chr5:150950686-150950698
30	TEAD4	chr5:150950073-150950547	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:150949470..150952211-chr5:150958873..150961683,3	MCF-7	breast:
2	chr5:150948647..150952629-chr5:150970748..150974404,4	MCF-7	breast:
3	chr5:150950232..150951828-chr5:150992759..150995006,2	MCF-7	breast:
4	chr5:150949333..150952291-chr5:151000084..151002404,2	MCF-7	breast:
5	chr5:150949275..150951752-chr5:151137668..151139701,2	K562	blood:

Variant related genes	Relation type
FAT2	TF binding region
ENSG00000177556	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10039591	0.90[ASN][1000 genomes]
rs10044120	0.91[ASN][1000 genomes]
rs10052817	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10054406	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10060613	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10060662	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10069540	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10069901	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10071034	0.91[ASN][1000 genomes]
rs10072841	0.91[ASN][1000 genomes]
rs10074454	0.87[ASN][1000 genomes]
rs10079712	0.91[ASN][1000 genomes]
rs10085060	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11746958	0.91[ASN][1000 genomes]
rs11750312	0.91[ASN][1000 genomes]
rs13158643	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13166858	0.91[ASN][1000 genomes]
rs13167092	0.91[ASN][1000 genomes]
rs13187324	0.91[ASN][1000 genomes]
rs1432862	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1432866	0.91[ASN][1000 genomes]
rs1541909	0.89[ASN][1000 genomes]
rs1835944	0.91[ASN][1000 genomes]
rs2163769	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2304053	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2304054	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28449749	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34335300	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34346367	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35211425	0.88[ASN][1000 genomes]
rs35908499	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35957412	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3734055	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3734057	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3734058	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3734059	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3734060	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4314387	0.91[ASN][1000 genomes]
rs4320248	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4376256	0.91[ASN][1000 genomes]
rs4416593	0.91[ASN][1000 genomes]
rs4416594	0.91[ASN][1000 genomes]
rs4416595	0.90[ASN][1000 genomes]
rs4452546	0.91[ASN][1000 genomes]
rs6859217	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6878528	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6878532	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6878556	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6878627	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6880902	0.88[ASN][1000 genomes]
rs6883153	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6883216	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7709576	0.89[ASN][1000 genomes]
rs7710596	0.91[ASN][1000 genomes]
rs7719117	0.91[ASN][1000 genomes]
rs7727173	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7732813	0.90[ASN][1000 genomes]
rs7737011	0.91[ASN][1000 genomes]
rs7737419	0.91[ASN][1000 genomes]
rs9324698	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9324699	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9324700	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9918229	0.91[ASN][1000 genomes]
rs9918283	0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv20633	chr5:150941705-150955343	Strong transcription Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:150948400-150951200	Enhancers	Esophagus	oesophagus
2	chr5:150948400-150953600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr5:150948400-150953600	Enhancers	Fetal Thymus	thymus
4	chr5:150948600-150951000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr5:150948600-150951400	Enhancers	Placenta	Placenta
6	chr5:150948600-150952600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:150949000-150951400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:150949600-150950800	Weak transcription	Primary B cells from peripheral blood	blood
9	chr5:150949600-150951600	Flanking Active TSS	NHEK	skin
10	chr5:150949800-150950600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr5:150949800-150950600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
12	chr5:150949800-150951000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr5:150949800-150951200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
14	chr5:150949800-150951200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:150949800-150951400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
16	chr5:150950000-150950600	Enhancers	Lung	lung
17	chr5:150950000-150950800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr5:150950000-150950800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:150950000-150951200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:150950000-150951200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:150950200-150950600	Weak transcription	Right Ventricle	heart
22	chr5:150950200-150950800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
23	chr5:150950200-150951200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:150950200-150951200	Enhancers	Spleen	Spleen
25	chr5:150950200-150951200	Flanking Active TSS	HMEC	breast

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