Variant report

Variant	rs62415932
Chromosome Location	chr6:57079889-57079890
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:57063501..57066310-chr6:57079453..57081666,2	K562	blood:
2	chr6:57072490..57076553-chr6:57079745..57082714,5	K562	blood:
3	chr6:57072490..57075602-chr6:57079745..57082698,3	K562	blood:
4	chr6:57033399..57035837-chr6:57077480..57080109,2	K562	blood:
5	chr6:57078641..57081307-chr6:57157408..57160258,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs3996934	1.00[EUR][1000 genomes]
rs3996935	1.00[EUR][1000 genomes]
rs3996936	1.00[EUR][1000 genomes]
rs4523090	1.00[EUR][1000 genomes]
rs4631287	1.00[EUR][1000 genomes]
rs7744148	1.00[EUR][1000 genomes]
rs7748120	1.00[EUR][1000 genomes]
rs7748453	1.00[EUR][1000 genomes]
rs7753547	1.00[EUR][1000 genomes]
rs7764446	1.00[EUR][1000 genomes]
rs9396256	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv462949	chr6:56973902-57098973	ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv603190	chr6:56973902-57098973	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57038000-57081600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:57039000-57086000	Weak transcription	Thymus	Thymus
3	chr6:57049400-57085000	Weak transcription	Aorta	Aorta
4	chr6:57056600-57086000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:57057200-57081200	Weak transcription	HMEC	breast
6	chr6:57057600-57081200	Weak transcription	Fetal Intestine Small	intestine
7	chr6:57058000-57080800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:57058200-57085800	Weak transcription	Fetal Muscle Leg	muscle
9	chr6:57058800-57081000	Weak transcription	NHEK	skin
10	chr6:57058800-57084000	Weak transcription	Dnd41	blood
11	chr6:57059200-57084000	Weak transcription	Hela-S3	cervix
12	chr6:57060600-57080600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:57062600-57084800	Weak transcription	HSMM	muscle
14	chr6:57064400-57084000	Weak transcription	NH-A	brain
15	chr6:57064400-57085000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:57064400-57086200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:57065000-57085000	Weak transcription	A549	lung
18	chr6:57067600-57085800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:57070600-57086000	Weak transcription	HSMMtube	muscle
20	chr6:57071600-57084800	Weak transcription	HUVEC	blood vessel
21	chr6:57071800-57080800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr6:57072000-57085800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr6:57072200-57081000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:57073200-57081200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr6:57073600-57081400	Weak transcription	NHDF-Ad	bronchial
26	chr6:57073800-57080800	Weak transcription	Fetal Lung	lung
27	chr6:57073800-57081200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:57075800-57080000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:57078000-57080200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr6:57078200-57083000	Weak transcription	HepG2	liver
31	chr6:57078200-57086000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:57078400-57080200	Enhancers	Primary T cells from cord blood	blood
33	chr6:57078400-57080200	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr6:57078400-57080200	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr6:57078600-57080000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr6:57078600-57080400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr6:57078600-57083200	Enhancers	Rectal Smooth Muscle	rectum
38	chr6:57078800-57080200	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr6:57078800-57081400	Enhancers	Colon Smooth Muscle	Colon
40	chr6:57079000-57080200	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr6:57079200-57080800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:57079200-57084200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:57079400-57081200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:57079400-57084400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr6:57079400-57085600	Weak transcription	Fetal Stomach	stomach
46	chr6:57079400-57086000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr6:57079600-57080000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:57079600-57080800	Weak transcription	K562	blood
49	chr6:57079600-57081200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr6:57079600-57081200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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