Variant report

Variant	rs62386614
Chromosome Location	chr6:4883377-4883378
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:4883238..4885666-chr6:4888687..4891027,3	MCF-7	breast:
2	chr6:4878191..4880805-chr6:4882424..4884117,2	K562	blood:
3	chr6:4882222..4884356-chr6:4885912..4887509,2	K562	blood:
4	chr6:4876740..4879691-chr6:4882617..4884780,2	K562	blood:
5	chr6:4882156..4883721-chr6:4884246..4886225,2	MCF-7	breast:
6	chr6:4872004..4874081-chr6:4883324..4885976,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153046	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs2179269	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61610972	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62384662	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62384663	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62384665	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62386571	0.86[ASN][1000 genomes]
rs62386575	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62386578	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62386582	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62386584	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62386585	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62386587	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62386590	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62386591	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62386593	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62386594	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62386612	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6918626	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6924037	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs808593	0.89[EUR][1000 genomes]
rs808598	0.89[EUR][1000 genomes]
rs808600	0.88[EUR][1000 genomes]
rs808606	0.89[EUR][1000 genomes]
rs808607	0.89[EUR][1000 genomes]
rs808608	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs808635	0.89[EUR][1000 genomes]
rs9378917	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9378919	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9392640	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9405786	1.00[AMR][1000 genomes];0.85[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	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
2	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
3	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
4	nsv830577	chr6:4834567-5050544	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4856800-4883600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:4865600-4892200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:4869600-4890000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:4871400-4891400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:4871400-4892000	Weak transcription	NHEK	skin
6	chr6:4872000-4883800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr6:4872000-4892000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:4872200-4898800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr6:4873400-4883600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr6:4874000-4891200	Weak transcription	Primary T cells from cord blood	blood
11	chr6:4874200-4892000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:4874200-4892000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:4874200-4894000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:4874800-4892000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:4875200-4892000	Weak transcription	Aorta	Aorta
16	chr6:4875600-4890200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:4876200-4884400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr6:4876800-4884400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr6:4877000-4892400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:4877200-4892000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr6:4877200-4892800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr6:4877400-4883600	Weak transcription	Lung	lung
23	chr6:4877400-4883600	Weak transcription	Psoas Muscle	Psoas
24	chr6:4877400-4883600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr6:4877400-4891400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:4877400-4892000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr6:4877400-4892000	Weak transcription	Ovary	ovary
28	chr6:4877400-4892200	Weak transcription	Esophagus	oesophagus
29	chr6:4878200-4905200	Weak transcription	Colon Smooth Muscle	Colon
30	chr6:4879600-4906200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr6:4880400-4891000	Weak transcription	Fetal Heart	heart
32	chr6:4880400-4892200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr6:4880400-4907800	Weak transcription	Small Intestine	intestine
34	chr6:4880600-4890000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr6:4880600-4892000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr6:4880600-4892000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr6:4880600-4898600	Weak transcription	HSMM	muscle
38	chr6:4880800-4883600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr6:4880800-4889200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr6:4881000-4883600	Weak transcription	Pancreas	Pancrea
41	chr6:4881000-4891600	Weak transcription	HepG2	liver
42	chr6:4881000-4892200	Weak transcription	Colonic Mucosa	Colon
43	chr6:4881000-4892600	Weak transcription	K562	blood
44	chr6:4881200-4883400	Weak transcription	Primary B cells from cord blood	blood
45	chr6:4881200-4883400	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr6:4881200-4885400	Weak transcription	Fetal Intestine Small	intestine
47	chr6:4881200-4892000	Weak transcription	Duodenum Mucosa	Duodenum
48	chr6:4881200-4892200	Weak transcription	Fetal Muscle Leg	muscle
49	chr6:4881200-4893200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr6:4881400-4891600	Weak transcription	Rectal Mucosa Donor 31	rectum

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