Variant report

Variant	rs12504915
Chromosome Location	chr4:77010546-77010547
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:76910404..76912093-chr4:77009234..77010931,2	MCF-7	breast:
2	chr4:77006287..77011420-chr4:77011515..77015802,5	K562	blood:
3	chr4:76987150..76989356-chr4:77009546..77012461,2	K562	blood:

Variant related genes	Relation type
ENSG00000198301	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10019066	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10222911	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs10856871	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs11097233	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs12499668	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12509996	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12511352	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12511357	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12511359	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12511861	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs13106039	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1554015	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs17001284	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs2869461	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs3733236	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs4621456	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6532167	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6532168	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6532169	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6532170	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6834291	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs7666094	1.00[JPT][hapmap]
rs7670156	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs7679689	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7685390	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7692605	1.00[CHB][hapmap]
rs7693606	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7696286	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs9998233	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1009047	chr4:76989180-77077885	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77008400-77011200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:77008400-77011200	Weak transcription	HMEC	breast
3	chr4:77008400-77011400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:77008400-77014200	Weak transcription	Pancreas	Pancrea
5	chr4:77008600-77010600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:77008600-77010600	Weak transcription	HUVEC	blood vessel
7	chr4:77008600-77011200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr4:77008600-77011200	Weak transcription	K562	blood
9	chr4:77008600-77011400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:77008600-77011600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:77008600-77011600	Weak transcription	Osteobl	bone
12	chr4:77008600-77016800	Weak transcription	Psoas Muscle	Psoas
13	chr4:77008800-77011200	Weak transcription	NHEK	skin
14	chr4:77008800-77011600	Weak transcription	Fetal Heart	heart
15	chr4:77009000-77011400	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr4:77009000-77011600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:77009000-77011600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:77009400-77011200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:77009400-77011400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:77009400-77011800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:77010000-77010600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr4:77010400-77011400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:77010400-77012200	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr4:77010400-77012200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr4:77010400-77012200	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr4:77010400-77012400	Enhancers	Primary hematopoietic stem cells	blood
27	chr4:77010400-77012800	Enhancers	Hela-S3	cervix

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