Variant report

Variant	rs4945634
Chromosome Location	chr6:119598726-119598727
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:119590898..119593723-chr6:119598543..119602207,4	K562	blood:
2	chr6:119598343..119601299-chr6:119603608..119605157,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1076656	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1104741	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11153802	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11962211	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12211868	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1408491	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1408492	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1408493	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs171843	0.82[ASN][1000 genomes]
rs195047	0.87[ASN][1000 genomes]
rs195049	0.88[ASN][1000 genomes]
rs195053	0.84[ASN][1000 genomes]
rs195054	0.84[ASN][1000 genomes]
rs195055	0.84[ASN][1000 genomes]
rs195057	0.83[ASN][1000 genomes]
rs195060	0.82[ASN][1000 genomes]
rs195061	0.81[ASN][1000 genomes]
rs195065	0.82[ASN][1000 genomes]
rs195067	0.81[ASN][1000 genomes]
rs195068	0.82[ASN][1000 genomes]
rs195069	0.82[ASN][1000 genomes]
rs195070	0.81[ASN][1000 genomes]
rs195071	0.90[EUR][1000 genomes]
rs195073	0.82[ASN][1000 genomes]
rs195074	0.82[ASN][1000 genomes]
rs195077	0.81[ASN][1000 genomes]
rs195078	0.86[EUR][1000 genomes]
rs195082	0.82[ASN][1000 genomes]
rs195084	0.82[ASN][1000 genomes]
rs195093	0.88[ASN][1000 genomes]
rs2142885	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299881	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2299884	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2357162	0.89[ASN][1000 genomes]
rs2357375	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3822997	0.87[ASN][1000 genomes]
rs4945633	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6569060	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6569061	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6569062	0.81[ASN][1000 genomes]
rs6569063	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs66524742	0.85[ASN][1000 genomes]
rs6903155	0.84[ASN][1000 genomes]
rs6922115	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6922274	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6932066	0.88[ASN][1000 genomes]
rs7357047	0.89[ASN][1000 genomes]
rs7775421	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9401135	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489624	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9489637	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9489650	0.88[ASN][1000 genomes]
rs9489654	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs980818	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs998194	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][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	nsv1025995	chr6:119407742-119709548	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv886570	chr6:119450888-119600556	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1017507	chr6:119465981-119664949	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv3447598	chr6:119558591-120119384	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	esv3389526	chr6:119558598-120190087	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119558800-119602000	Weak transcription	Gastric	stomach
2	chr6:119589200-119611000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr6:119590600-119621800	Weak transcription	Placenta	Placenta
4	chr6:119590800-119617400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:119590800-119626600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr6:119591000-119599800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:119591000-119599800	Weak transcription	Lung	lung
8	chr6:119591000-119600600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr6:119591000-119624200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:119591200-119602000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:119591200-119604600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:119591400-119601400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:119592000-119602200	Weak transcription	Left Ventricle	heart
14	chr6:119592000-119604200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr6:119592200-119622200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr6:119592400-119601200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr6:119592400-119604800	Weak transcription	Fetal Intestine Large	intestine
18	chr6:119592400-119610600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr6:119592400-119620800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr6:119592400-119633600	Weak transcription	Primary T cells from cord blood	blood
21	chr6:119592600-119622200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr6:119592600-119627200	Weak transcription	Dnd41	blood
23	chr6:119593000-119599800	Weak transcription	Aorta	Aorta
24	chr6:119593000-119622200	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr6:119593000-119624800	Weak transcription	Fetal Thymus	thymus
26	chr6:119593000-119626800	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr6:119593200-119604600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:119594200-119605000	Strong transcription	HepG2	liver
29	chr6:119595400-119601600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:119597200-119627400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr6:119597600-119598800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:119597600-119604800	Weak transcription	GM12878-XiMat	blood
33	chr6:119597600-119610800	Weak transcription	Fetal Kidney	kidney
34	chr6:119597800-119599200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:119597800-119599200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:119597800-119599800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr6:119597800-119600000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr6:119597800-119601400	Weak transcription	Osteobl	bone
39	chr6:119597800-119602000	Weak transcription	NHLF	lung
40	chr6:119597800-119604400	Weak transcription	Primary B cells from cord blood	blood
41	chr6:119598000-119600600	Weak transcription	Adipose Nuclei	Adipose
42	chr6:119598000-119601200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:119598200-119599400	Weak transcription	Fetal Lung	lung
44	chr6:119598200-119601400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:119598400-119601000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr6:119598400-119601200	Weak transcription	NHDF-Ad	bronchial
47	chr6:119598600-119598800	ZNF genes & repeats	K562	blood
48	chr6:119598600-119600000	Strong transcription	Fetal Intestine Small	intestine
49	chr6:119598600-119602800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr6:119598600-119603000	Strong transcription	Liver	Liver

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