Variant report

Variant	rs62386582
Chromosome Location	chr6:4812816-4812817
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:4810884..4813153-chr6:4835754..4837513,2	MCF-7	breast:
2	chr6:4810561..4812233-chr6:4812565..4815063,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153046	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1016877	0.89[EUR][1000 genomes]
rs11967994	0.84[EUR][1000 genomes]
rs11968021	0.85[EUR][1000 genomes]
rs1265332	0.87[EUR][1000 genomes]
rs1265333	0.87[EUR][1000 genomes]
rs1265334	0.85[EUR][1000 genomes]
rs1265335	0.85[EUR][1000 genomes]
rs17138856	0.87[EUR][1000 genomes]
rs184588	0.85[EUR][1000 genomes]
rs2179269	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2179270	0.87[EUR][1000 genomes]
rs233476	0.85[EUR][1000 genomes]
rs3748078	0.88[EUR][1000 genomes]
rs61610972	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62386571	0.81[ASN][1000 genomes]
rs62386574	0.85[EUR][1000 genomes]
rs62386575	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62386576	0.87[EUR][1000 genomes]
rs62386577	0.87[EUR][1000 genomes]
rs62386578	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62386584	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62386585	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62386587	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62386590	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62386591	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62386593	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62386594	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62386612	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62386614	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6910368	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6918626	0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73362560	0.87[EUR][1000 genomes]
rs808608	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9504254	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3366530	chr6:4471528-4865322	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1015888	chr6:4787784-4883663	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4794800-4818800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:4802400-4818800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:4803400-4814600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr6:4806800-4814000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr6:4806800-4819800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:4806800-4820200	Weak transcription	NHLF	lung
7	chr6:4806800-4820400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr6:4806800-4829400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:4807000-4817400	Weak transcription	Brain Anterior Caudate	brain
10	chr6:4807000-4821200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr6:4807200-4819800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr6:4807200-4827800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:4807400-4813400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr6:4807600-4814600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr6:4807600-4817000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr6:4808800-4818800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:4809200-4813000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:4809400-4814000	Weak transcription	Ovary	ovary
19	chr6:4810200-4816600	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr6:4810400-4816200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr6:4810600-4813200	Enhancers	GM12878-XiMat	blood
22	chr6:4810800-4813000	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr6:4811000-4815200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:4811000-4815800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr6:4811200-4817200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:4811200-4820000	Weak transcription	Colonic Mucosa	Colon
27	chr6:4811200-4820000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr6:4811200-4820000	Weak transcription	Spleen	Spleen
29	chr6:4811400-4813400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:4811600-4813000	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr6:4811600-4814200	Weak transcription	Colon Smooth Muscle	Colon
32	chr6:4811800-4813000	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr6:4811800-4813000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:4811800-4813000	Enhancers	Muscle Satellite Cultured Cells	--
35	chr6:4811800-4813200	Enhancers	Primary hematopoietic stem cells	blood
36	chr6:4811800-4815800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr6:4811800-4820000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr6:4812000-4818000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr6:4812400-4814000	Weak transcription	Pancreas	Pancrea
40	chr6:4812400-4814400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr6:4812400-4814600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr6:4812400-4814800	Weak transcription	Esophagus	oesophagus
43	chr6:4812400-4814800	Weak transcription	Lung	lung
44	chr6:4812400-4817200	Weak transcription	Gastric	stomach
45	chr6:4812400-4820000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:4812400-4820000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:4812400-4820000	Weak transcription	Placenta	Placenta
48	chr6:4812400-4820000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr6:4812400-4829600	Weak transcription	Left Ventricle	heart
50	chr6:4812600-4814600	Weak transcription	Small Intestine	intestine

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