Variant report

Variant	rs980818
Chromosome Location	chr6:119584733-119584734
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:119584481..119586279-chr6:119586343..119589172,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1076656	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10872174	0.86[ASN][1000 genomes]
rs1104741	0.84[EUR][1000 genomes]
rs11153802	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11962211	0.82[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12211868	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1408491	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1408492	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1408493	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1555684	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs195053	0.85[CHB][hapmap]
rs195054	0.85[CHB][hapmap]
rs195057	0.85[CHB][hapmap]
rs195060	0.85[CHB][hapmap]
rs195067	0.81[CHB][hapmap]
rs195070	0.85[CHB][hapmap]
rs195071	0.85[CEU][hapmap];0.89[EUR][1000 genomes]
rs195077	0.85[CHB][hapmap]
rs195078	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs195091	0.81[CEU][hapmap]
rs1980460	0.85[ASN][1000 genomes]
rs2142885	0.96[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2142891	0.86[ASN][1000 genomes]
rs2299877	0.85[ASN][1000 genomes]
rs2299881	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2299884	0.96[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2357162	1.00[ASN][1000 genomes]
rs2357375	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3778110	0.92[CHB][hapmap]
rs3822997	0.98[ASN][1000 genomes]
rs3822998	0.86[ASN][1000 genomes]
rs4945632	0.87[ASN][1000 genomes]
rs4945633	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4945634	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6569058	0.85[ASN][1000 genomes]
rs6569060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6569061	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6569062	0.86[CHB][hapmap]
rs6569063	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6922115	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6922274	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6933961	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs6939774	0.85[ASN][1000 genomes]
rs7357047	1.00[ASN][1000 genomes]
rs7761203	0.87[ASN][1000 genomes]
rs7775421	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9320682	0.86[ASN][1000 genomes]
rs9320683	0.86[ASN][1000 genomes]
rs9320684	0.83[CEU][hapmap];0.87[JPT][hapmap]
rs9398506	0.92[CHB][hapmap]
rs9401135	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9489624	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9489633	0.81[EUR][1000 genomes]
rs9489637	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489654	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs998194	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119558800-119589800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:119558800-119590200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:119558800-119590400	Weak transcription	GM12878-XiMat	blood
4	chr6:119558800-119602000	Weak transcription	Gastric	stomach
5	chr6:119562800-119590200	Weak transcription	Fetal Stomach	stomach
6	chr6:119562800-119590800	Weak transcription	Fetal Muscle Leg	muscle
7	chr6:119563400-119588000	Weak transcription	Fetal Kidney	kidney
8	chr6:119563400-119590200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:119568600-119592600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr6:119569200-119589800	Weak transcription	Fetal Intestine Large	intestine
11	chr6:119569200-119590000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr6:119569200-119590400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:119569200-119591600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr6:119569200-119591600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr6:119569400-119590000	Weak transcription	Placenta	Placenta
16	chr6:119569400-119590200	Weak transcription	Left Ventricle	heart
17	chr6:119569400-119591600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr6:119574200-119589800	Weak transcription	Fetal Intestine Small	intestine
19	chr6:119577000-119588800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr6:119578600-119588800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr6:119579600-119588200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr6:119580400-119588800	Weak transcription	Small Intestine	intestine
23	chr6:119581800-119590000	Weak transcription	Adipose Nuclei	Adipose
24	chr6:119582000-119587800	Weak transcription	Colon Smooth Muscle	Colon
25	chr6:119582800-119591600	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr6:119583000-119587800	Weak transcription	Fetal Lung	lung
27	chr6:119583200-119590200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:119583400-119585400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr6:119583400-119586000	Strong transcription	K562	blood
30	chr6:119583400-119588600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:119583400-119589000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:119583400-119589600	Weak transcription	Pancreas	Pancrea
33	chr6:119583400-119590000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:119583400-119590200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:119583400-119590600	Weak transcription	Lung	lung
36	chr6:119583400-119590800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr6:119583400-119591600	Weak transcription	NHDF-Ad	bronchial
38	chr6:119583800-119584800	Strong transcription	Primary B cells from cord blood	blood
39	chr6:119584000-119588200	Weak transcription	Liver	Liver
40	chr6:119584200-119590000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:119584400-119585600	Strong transcription	HepG2	liver
42	chr6:119584400-119586200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr6:119584400-119588800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr6:119584400-119588800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr6:119584400-119589400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:119584600-119584800	Enhancers	Pancreatic Islets	Pancreatic Islet

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