Variant report

Variant	rs7697394
Chromosome Location	chr4:75174532-75174533
allele	A/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	POLR2A	chr4:75173904-75174653	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr4:75173918-75175029	Hela-S3	cervix:	n/a	n/a
3	TBP	chr4:75173902-75175201	Hela-S3	cervix:	n/a	n/a
4	MYC	chr4:75173851-75174791	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr4:75173631-75175675	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:75089767..75091947-chr4:75172992..75174863,2	K562	blood:
2	chr4:75022872..75025434-chr4:75174456..75176612,2	MCF-7	breast:
3	chr4:75088731..75091267-chr4:75171967..75174863,2	K562	blood:

Variant related genes	Relation type
EPGN	TF binding region
ENSG00000269559	Chromatin interaction
ENSG00000163738	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10006685	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10011730	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10014791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10015148	0.90[ASN][1000 genomes]
rs1246576	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1246583	0.95[ASN][1000 genomes]
rs1246589	0.95[ASN][1000 genomes]
rs1246592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1246593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1246595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1246596	0.95[ASN][1000 genomes]
rs1460004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1542468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs16850833	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16850864	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16850866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16850885	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850892	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850899	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850903	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850918	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850929	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850939	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2611754	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs28382340	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28417935	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28423375	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28434222	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28462312	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28588511	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28663170	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28721942	0.82[ASN][1000 genomes]
rs28788278	0.90[ASN][1000 genomes]
rs492042	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs56667969	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs579866	1.00[CEU][hapmap]
rs6821364	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6845763	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs734222	1.00[CEU][hapmap]
rs7656041	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7656313	0.90[ASN][1000 genomes]
rs7665228	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7670644	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7689369	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7694828	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9683437	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9884572	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9884653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9992624	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9993008	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1009099	chr4:75089233-75726206	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75149800-75186200	Weak transcription	K562	blood
2	chr4:75173000-75176200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr4:75173800-75174800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr4:75173800-75175400	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr4:75173800-75175400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr4:75173800-75175600	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr4:75173800-75175800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:75174000-75174600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:75174000-75175000	Active TSS	HMEC	breast
10	chr4:75174000-75175600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr4:75174000-75175600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:75174000-75175600	Active TSS	NHEK	skin
13	chr4:75174000-75176200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:75174000-75176400	Active TSS	Hela-S3	cervix
15	chr4:75174200-75174600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:75174200-75175200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr4:75174200-75175200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr4:75174200-75175200	Weak transcription	GM12878-XiMat	blood
19	chr4:75174200-75175400	Enhancers	Primary T cells from cord blood	blood
20	chr4:75174200-75175800	Enhancers	Primary hematopoietic stem cells	blood
21	chr4:75174200-75176400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:75174400-75175000	Weak transcription	Osteobl	bone
23	chr4:75174400-75175600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr4:75174400-75177600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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