Variant report

Variant	rs56042959
Chromosome Location	chr6:128574114-128574115
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10046162	0.82[EUR][1000 genomes]
rs10485161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10485162	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10499136	0.82[EUR][1000 genomes]
rs10499138	1.00[EUR][1000 genomes]
rs11962916	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11968433	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11970637	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1339188	0.80[AFR][1000 genomes]
rs17053270	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055290	1.00[EUR][1000 genomes]
rs17055300	1.00[EUR][1000 genomes]
rs17055360	1.00[EUR][1000 genomes]
rs17055365	1.00[EUR][1000 genomes]
rs17055403	1.00[EUR][1000 genomes]
rs17055412	1.00[EUR][1000 genomes]
rs17055415	1.00[EUR][1000 genomes]
rs17055421	1.00[EUR][1000 genomes]
rs17055443	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17055445	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17055461	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055488	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17055507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1738273	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1768358	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1856497	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28874136	0.82[EUR][1000 genomes]
rs4131020	1.00[EUR][1000 genomes]
rs4496822	0.82[EUR][1000 genomes]
rs4895832	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4897244	1.00[EUR][1000 genomes]
rs4897245	1.00[EUR][1000 genomes]
rs4897246	1.00[EUR][1000 genomes]
rs4897247	1.00[EUR][1000 genomes]
rs4897248	1.00[EUR][1000 genomes]
rs4897249	1.00[EUR][1000 genomes]
rs4897250	1.00[EUR][1000 genomes]
rs55828045	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56932458	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57797601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58652879	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58706847	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59341107	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60264538	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60436012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61111040	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6900798	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6905735	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6909380	1.00[EUR][1000 genomes]
rs6910587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6913738	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6918772	1.00[EUR][1000 genomes]
rs6929394	1.00[EUR][1000 genomes]
rs6929623	1.00[EUR][1000 genomes]
rs6933133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6938199	1.00[EUR][1000 genomes]
rs73588698	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73590666	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73592613	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73592686	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7751187	1.00[EUR][1000 genomes]
rs7752113	0.82[EUR][1000 genomes]
rs7754637	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7768121	1.00[EUR][1000 genomes]
rs7772200	1.00[EUR][1000 genomes]
rs9491909	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033443	chr6:128306654-128899203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv538440	chr6:128306654-128899203	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv886649	chr6:128399657-128808054	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128551400-128584400	Weak transcription	Pancreas	Pancrea
2	chr6:128555200-128584400	Weak transcription	HMEC	breast
3	chr6:128555600-128595800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:128561400-128587000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr6:128562400-128576600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:128562800-128579800	Weak transcription	Left Ventricle	heart
7	chr6:128562800-128588200	Weak transcription	HUVEC	blood vessel
8	chr6:128563000-128585400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:128564400-128583400	Weak transcription	HepG2	liver
10	chr6:128564400-128588600	Weak transcription	NHEK	skin
11	chr6:128566400-128579800	Weak transcription	Psoas Muscle	Psoas
12	chr6:128568000-128592000	Weak transcription	Brain Angular Gyrus	brain
13	chr6:128568800-128576800	Weak transcription	Fetal Intestine Small	intestine
14	chr6:128569400-128576400	Weak transcription	Fetal Intestine Large	intestine
15	chr6:128571000-128576600	Weak transcription	Liver	Liver
16	chr6:128571200-128584200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:128571200-128596200	Weak transcription	HSMMtube	muscle
18	chr6:128571600-128577200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:128572600-128574200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr6:128572600-128574800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:128572600-128575200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:128573000-128574200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:128573000-128574200	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr6:128573000-128574400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr6:128573000-128574800	Enhancers	NHDF-Ad	bronchial
26	chr6:128573000-128575000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:128573000-128575400	Enhancers	Osteobl	bone
28	chr6:128573200-128574200	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr6:128573200-128574800	Enhancers	Muscle Satellite Cultured Cells	--
30	chr6:128573600-128574400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr6:128573600-128574600	Enhancers	Primary T cells from cord blood	blood
32	chr6:128573600-128574600	Enhancers	NH-A	brain
33	chr6:128573600-128574800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:128573800-128574200	Enhancers	Fetal Thymus	thymus
35	chr6:128573800-128574200	Enhancers	Thymus	Thymus
36	chr6:128573800-128574200	Enhancers	NHLF	lung
37	chr6:128573800-128574400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr6:128573800-128575200	Enhancers	Brain Substantia Nigra	brain
39	chr6:128574000-128574200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr6:128574000-128574200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr6:128574000-128574400	Enhancers	Brain Hippocampus Middle	brain
42	chr6:128574000-128575000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:128574000-128575000	Enhancers	Fetal Heart	heart
44	chr6:128574000-128575800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr6:128574000-128588200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr6:128574000-128592200	Weak transcription	Gastric	stomach
47	chr6:128574000-128596200	Weak transcription	HSMM	muscle

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