Variant report

Variant	rs195086
Chromosome Location	chr6:119665072-119665073
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	chr6:119648699..119654492-chr6:119662714..119668241,6	K562	blood:
2	chr6:119452081..119454221-chr6:119663183..119665490,2	MCF-7	breast:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1076656	0.81[ASN][1000 genomes]
rs11153813	0.92[ASN][1000 genomes]
rs11153815	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11962211	0.95[CHB][hapmap];0.84[JPT][hapmap]
rs12526344	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12529667	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12530171	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1295374	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1295375	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1295379	0.92[ASN][1000 genomes]
rs1295380	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1295386	0.89[CHB][hapmap];0.85[CHD][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs1295390	0.92[ASN][1000 genomes]
rs1295394	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1342313	0.86[AMR][1000 genomes]
rs1418376	0.88[AMR][1000 genomes]
rs171843	0.88[CEU][hapmap]
rs1797064	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs195046	0.95[CHB][hapmap];0.84[JPT][hapmap]
rs195054	0.88[CEU][hapmap];0.85[GIH][hapmap];0.89[MEX][hapmap];0.84[TSI][hapmap];0.83[AMR][1000 genomes]
rs195055	0.83[AMR][1000 genomes]
rs195057	0.88[CEU][hapmap];0.85[GIH][hapmap];0.94[MEX][hapmap];0.83[AMR][1000 genomes]
rs195061	0.86[AMR][1000 genomes]
rs195062	0.86[ASN][1000 genomes]
rs195063	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs195067	0.86[CEU][hapmap];0.86[AMR][1000 genomes]
rs195071	0.89[CHB][hapmap];0.85[CHD][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs195076	0.95[ASN][1000 genomes]
rs195077	0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs195078	0.95[CHB][hapmap];0.85[CHD][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs195079	0.86[ASN][1000 genomes]
rs195081	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs195083	0.86[ASN][1000 genomes]
rs195085	0.89[ASN][1000 genomes]
rs195087	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs195091	0.93[CHB][hapmap];0.81[JPT][hapmap]
rs2066350	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2295203	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2299879	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs28364655	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3778110	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3798655	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4945636	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4946409	0.98[ASN][1000 genomes]
rs56095132	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6569074	0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs6569075	0.87[ASN][1000 genomes]
rs6900388	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6903680	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6924723	0.96[ASN][1000 genomes]
rs6925366	0.83[AMR][1000 genomes]
rs72952933	0.92[AMR][1000 genomes]
rs72952941	0.86[AMR][1000 genomes]
rs7765368	0.97[CHD][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];0.93[ASN][1000 genomes]
rs9372528	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9372531	0.88[AMR][1000 genomes]
rs9372534	0.89[AMR][1000 genomes]
rs9374784	0.82[AMR][1000 genomes]
rs9374785	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9374786	1.00[CEU][hapmap];0.92[GIH][hapmap];0.84[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9374789	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9374790	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9385071	0.83[AMR][1000 genomes]
rs9387645	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9387646	0.89[ASN][1000 genomes]
rs9387647	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9387650	0.86[AMR][1000 genomes]
rs9398506	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9398507	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9398508	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9398509	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9401136	0.86[AMR][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	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	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
3	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
4	esv1802628	chr6:119647135-119678881	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119625200-119668600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:119627800-119667000	Weak transcription	Gastric	stomach
3	chr6:119636200-119667400	Weak transcription	Right Ventricle	heart
4	chr6:119636200-119667800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:119641400-119668200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr6:119644200-119667000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr6:119645000-119668200	Weak transcription	Aorta	Aorta
8	chr6:119648200-119668000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:119648200-119668000	Weak transcription	Esophagus	oesophagus
10	chr6:119651000-119667400	Weak transcription	Fetal Stomach	stomach
11	chr6:119652200-119667600	Weak transcription	Thymus	Thymus
12	chr6:119652200-119667600	Weak transcription	NHLF	lung
13	chr6:119653200-119667600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:119653200-119667800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr6:119657800-119667600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr6:119658000-119667400	Weak transcription	NHEK	skin
17	chr6:119658600-119665200	Genic enhancers	Liver	Liver
18	chr6:119658600-119665800	Genic enhancers	Primary hematopoietic stem cells	blood
19	chr6:119658800-119667200	Weak transcription	Psoas Muscle	Psoas
20	chr6:119658800-119667800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:119660800-119667600	Weak transcription	Fetal Brain Male	brain
22	chr6:119661200-119668000	Weak transcription	Fetal Muscle Leg	muscle
23	chr6:119661400-119668000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:119661600-119667800	Weak transcription	Primary T cells from cord blood	blood
25	chr6:119661600-119667800	Transcr. at gene 5' and 3'	HepG2	liver
26	chr6:119661800-119665600	Weak transcription	Lung	lung
27	chr6:119662000-119665600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:119662200-119669200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:119662400-119667400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr6:119662600-119665200	Enhancers	Duodenum Mucosa	Duodenum
31	chr6:119662600-119665400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr6:119662600-119665400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr6:119662600-119665600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr6:119662600-119665600	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr6:119662600-119665600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:119662600-119665600	Weak transcription	Colonic Mucosa	Colon
37	chr6:119662600-119665600	Weak transcription	Pancreas	Pancrea
38	chr6:119662600-119666200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr6:119662600-119666200	Weak transcription	NHDF-Ad	bronchial
40	chr6:119662600-119666800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr6:119662600-119666800	Weak transcription	Fetal Kidney	kidney
42	chr6:119662600-119667000	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr6:119662600-119667000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr6:119662600-119667200	Weak transcription	Right Atrium	heart
45	chr6:119662600-119667400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr6:119662600-119667400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr6:119662600-119667600	Weak transcription	Primary B cells from peripheral blood	blood
48	chr6:119662600-119667600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr6:119662600-119667600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr6:119662600-119667600	Weak transcription	Left Ventricle	heart

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