Variant report

Variant	rs62386578
Chromosome Location	chr6:4806957-4806958
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:4804953..4807169-chr6:4808675..4810449,2	MCF-7	breast:
2	chr6:4804988..4807202-chr6:4935507..4937901,2	MCF-7	breast:
3	chr6:4800052..4801970-chr6:4804780..4807204,2	K562	blood:
4	chr6:4776564..4779894-chr6:4804757..4807195,3	MCF-7	breast:
5	chr6:4806891..4809234-chr6:4853712..4855967,2	K562	blood:
6	chr6:4799940..4802712-chr6:4806836..4810096,3	K562	blood:

Variant related genes	Relation type
ENSG00000153046	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1016877	0.87[EUR][1000 genomes]
rs11967994	0.87[EUR][1000 genomes]
rs11968021	0.88[EUR][1000 genomes]
rs1265332	0.89[EUR][1000 genomes]
rs1265333	0.89[EUR][1000 genomes]
rs1265334	0.88[EUR][1000 genomes]
rs1265335	0.88[EUR][1000 genomes]
rs17138856	0.89[EUR][1000 genomes]
rs184588	0.88[EUR][1000 genomes]
rs2179269	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2179270	0.84[EUR][1000 genomes]
rs233476	0.88[EUR][1000 genomes]
rs3748078	0.85[EUR][1000 genomes]
rs61610972	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62384662	0.84[AMR][1000 genomes]
rs62384663	0.84[AMR][1000 genomes]
rs62386571	0.81[ASN][1000 genomes]
rs62386574	0.88[EUR][1000 genomes]
rs62386575	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62386576	0.89[EUR][1000 genomes]
rs62386577	0.89[EUR][1000 genomes]
rs62386582	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62386584	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62386585	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62386587	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62386590	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62386591	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62386593	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62386594	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62386612	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62386614	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6910368	0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6918626	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6924037	0.89[AMR][1000 genomes]
rs73362560	0.89[EUR][1000 genomes]
rs808608	0.81[EUR][1000 genomes]
rs9378917	0.84[AMR][1000 genomes]
rs9378919	0.89[AMR][1000 genomes]
rs9392640	0.89[AMR][1000 genomes]
rs9405786	0.89[AMR][1000 genomes]
rs9504254	0.89[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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4787400-4808800	Weak transcription	Aorta	Aorta
2	chr6:4794800-4818800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:4800000-4810400	Weak transcription	Fetal Intestine Small	intestine
4	chr6:4801800-4811600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr6:4802200-4811200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr6:4802400-4807000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr6:4802400-4807400	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr6:4802400-4810400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:4802400-4812000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr6:4802400-4818800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr6:4803400-4807600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:4803400-4814600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr6:4803600-4808400	Weak transcription	Primary T cells from cord blood	blood
14	chr6:4803600-4810800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr6:4803800-4807000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr6:4803800-4810400	Weak transcription	Small Intestine	intestine
17	chr6:4804000-4807000	Weak transcription	Colon Smooth Muscle	Colon
18	chr6:4804000-4807200	Weak transcription	Fetal Thymus	thymus
19	chr6:4804000-4809200	Weak transcription	Fetal Stomach	stomach
20	chr6:4804400-4807400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr6:4804600-4807200	Weak transcription	K562	blood
22	chr6:4804600-4807400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:4804600-4807400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:4804600-4810200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr6:4804600-4810800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr6:4804600-4812000	Weak transcription	Pancreas	Pancrea
27	chr6:4804600-4812200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr6:4804600-4812200	Weak transcription	HSMMtube	muscle
29	chr6:4805000-4807000	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr6:4805000-4809200	Weak transcription	Primary B cells from cord blood	blood
31	chr6:4805000-4810200	Weak transcription	Osteobl	bone
32	chr6:4805200-4810200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:4805600-4807000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:4805600-4807400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr6:4805600-4807400	Enhancers	Lung	lung
36	chr6:4805600-4807400	Enhancers	Psoas Muscle	Psoas
37	chr6:4805600-4809400	Enhancers	Placenta	Placenta
38	chr6:4805800-4807200	Enhancers	Fetal Brain Male	brain
39	chr6:4805800-4807200	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr6:4805800-4807400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr6:4805800-4807400	Enhancers	Colonic Mucosa	Colon
42	chr6:4805800-4807600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr6:4806000-4807000	Enhancers	Brain Angular Gyrus	brain
44	chr6:4806000-4807200	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr6:4806000-4807200	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr6:4806000-4807400	Enhancers	Brain Hippocampus Middle	brain
47	chr6:4806000-4807400	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr6:4806000-4807600	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr6:4806200-4807000	Genic enhancers	H1 Cell Line	embryonic stem cell
50	chr6:4806200-4807000	Enhancers	Brain Anterior Caudate	brain

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