Variant report

Variant	rs4694634
Chromosome Location	chr4:74591393-74591394
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:74564675..74567872-chr4:74591204..74594045,3	MCF-7	breast:
2	chr4:74588963..74591805-chr4:74598001..74600687,2	MCF-7	breast:
3	chr4:74587494..74589438-chr4:74591195..74593381,3	K562	blood:
4	chr4:74590489..74596671-chr4:74604726..74609497,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169429	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10019994	1.00[ASN][1000 genomes]
rs11944104	1.00[CHD][hapmap]
rs12108656	1.00[MEX][hapmap]
rs1247684	1.00[ASN][1000 genomes]
rs1406499	1.00[ASN][1000 genomes]
rs1745250	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2463883	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4285054	1.00[ASN][1000 genomes]
rs59078835	1.00[ASN][1000 genomes]
rs59640098	1.00[ASN][1000 genomes]
rs6446943	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6446952	1.00[ASN][1000 genomes]
rs6818282	1.00[ASN][1000 genomes]
rs6848823	1.00[ASN][1000 genomes]
rs6855652	1.00[ASN][1000 genomes]
rs72858933	1.00[ASN][1000 genomes]
rs72858937	1.00[ASN][1000 genomes]
rs72858939	1.00[ASN][1000 genomes]
rs72858993	1.00[ASN][1000 genomes]
rs72863008	1.00[ASN][1000 genomes]
rs72863014	1.00[ASN][1000 genomes]
rs72863061	1.00[ASN][1000 genomes]
rs72863074	1.00[ASN][1000 genomes]
rs72863084	1.00[ASN][1000 genomes]
rs72863086	1.00[ASN][1000 genomes]
rs72863093	1.00[ASN][1000 genomes]
rs72865421	1.00[ASN][1000 genomes]
rs72865434	1.00[ASN][1000 genomes]
rs72865438	1.00[ASN][1000 genomes]
rs72865440	1.00[ASN][1000 genomes]
rs72865454	1.00[ASN][1000 genomes]
rs72865456	1.00[ASN][1000 genomes]
rs72865458	1.00[ASN][1000 genomes]
rs72865462	1.00[ASN][1000 genomes]
rs72865466	1.00[ASN][1000 genomes]
rs72865471	1.00[ASN][1000 genomes]
rs72865474	1.00[ASN][1000 genomes]
rs72865476	1.00[ASN][1000 genomes]
rs72865480	1.00[ASN][1000 genomes]
rs72865485	1.00[ASN][1000 genomes]
rs72865492	1.00[ASN][1000 genomes]
rs7663473	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7663880	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7666794	1.00[ASN][1000 genomes]
rs7680894	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7681278	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7684080	1.00[ASN][1000 genomes]
rs7698909	1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1008104	chr4:74468434-74621952	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1012198	chr4:74487793-74621952	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv537139	chr4:74487793-74621952	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1005231	chr4:74555497-74680079	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74585000-74591600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr4:74587400-74592600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:74587600-74592000	Weak transcription	Placenta	Placenta
4	chr4:74587800-74591600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr4:74588000-74595000	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr4:74588000-74595200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr4:74588200-74591600	Weak transcription	NHLF	lung
8	chr4:74588600-74591400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:74588600-74592000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:74589000-74591400	Weak transcription	K562	blood
11	chr4:74589000-74592000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:74589200-74591400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:74589200-74591800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:74589400-74592200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr4:74590800-74592400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:74590800-74593000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:74590800-74596400	Enhancers	HUVEC	blood vessel
18	chr4:74591000-74592600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:74591000-74592800	Enhancers	HMEC	breast
20	chr4:74591000-74594000	Enhancers	Placenta Amnion	Placenta Amnion
21	chr4:74591200-74591600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:74591200-74591600	Enhancers	A549	lung
23	chr4:74591200-74592400	Enhancers	HSMM	muscle
24	chr4:74591200-74592400	Enhancers	NH-A	brain
25	chr4:74591200-74592800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr4:74591200-74592800	Enhancers	Hela-S3	cervix
27	chr4:74591200-74592800	Enhancers	Osteobl	bone
28	chr4:74591200-74593000	Enhancers	NHDF-Ad	bronchial
29	chr4:74591200-74593400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:74591200-74593600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:74591200-74593600	Enhancers	NHEK	skin

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