Variant report

Variant	rs195067
Chromosome Location	chr6:119650687-119650688
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:119646815..119653075-chr6:119668578..119671016,6	K562	blood:
2	chr6:119639287..119641079-chr6:119648942..119650779,2	K562	blood:
3	chr6:119648699..119654492-chr6:119662714..119668241,6	K562	blood:
4	chr6:119649907..119652799-chr6:119665280..119667336,2	MCF-7	breast:
5	chr6:119645956..119647661-chr6:119649271..119650786,2	K562	blood:
6	chr6:119645412..119648309-chr6:119648724..119650771,3	K562	blood:
7	chr6:119650127..119652249-chr6:119661501..119664214,3	K562	blood:
8	chr6:119644552..119646145-chr6:119648856..119651742,2	MCF-7	breast:
9	chr6:119648921..119652140-chr6:119668699..119671040,3	K562	blood:
10	chr6:119649666..119652399-chr6:119665160..119668137,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000111885	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs1005506	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs10872174	0.81[ASN][1000 genomes]
rs11153815	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12526344	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12529667	0.86[CEU][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12530171	0.86[CEU][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1295374	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1295375	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1295380	0.86[CEU][hapmap];0.92[JPT][hapmap];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1295394	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1342313	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1418376	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1555684	0.88[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs171843	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs195047	0.93[ASN][1000 genomes]
rs195049	0.93[ASN][1000 genomes]
rs195050	0.83[AMR][1000 genomes]
rs195053	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs195054	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs195055	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs195057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs195060	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs195061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195063	0.88[CEU][hapmap]
rs195065	0.99[ASN][1000 genomes]
rs195068	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs195069	0.99[ASN][1000 genomes]
rs195070	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs195072	0.96[ASN][1000 genomes]
rs195073	0.99[ASN][1000 genomes]
rs195074	0.99[ASN][1000 genomes]
rs195077	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195081	0.88[CEU][hapmap]
rs195082	0.99[ASN][1000 genomes]
rs195084	0.99[ASN][1000 genomes]
rs195086	0.86[AMR][1000 genomes]
rs195087	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs195093	0.93[ASN][1000 genomes]
rs2064161	0.81[AMR][1000 genomes]
rs2066350	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2142885	0.92[CHB][hapmap];0.81[ASN][1000 genomes]
rs2142891	0.81[ASN][1000 genomes]
rs2295203	0.86[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2299884	0.92[CHB][hapmap]
rs2357375	0.81[ASN][1000 genomes]
rs28364655	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3778110	0.86[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3798655	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3822998	0.81[ASN][1000 genomes]
rs4945632	0.80[ASN][1000 genomes]
rs4945634	0.81[ASN][1000 genomes]
rs4945636	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs56095132	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6569059	0.88[CEU][hapmap]
rs6569062	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs66524742	0.92[ASN][1000 genomes]
rs6900388	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6903155	0.88[ASN][1000 genomes]
rs6903680	0.85[CEU][hapmap];0.92[JPT][hapmap];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6922115	0.81[ASN][1000 genomes]
rs6922274	0.81[ASN][1000 genomes]
rs6925366	0.84[AMR][1000 genomes]
rs6932066	0.93[ASN][1000 genomes]
rs6933961	0.88[CEU][hapmap];0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs72952933	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72952941	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7761203	0.80[ASN][1000 genomes]
rs7775421	0.91[CHB][hapmap]
rs9320682	0.81[ASN][1000 genomes]
rs9320683	0.81[ASN][1000 genomes]
rs9372528	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9372531	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9374784	0.86[AMR][1000 genomes]
rs9374785	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9374786	0.86[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9374789	0.86[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9374790	0.87[ASN][1000 genomes]
rs9385071	0.84[AMR][1000 genomes]
rs9387645	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9387647	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9387650	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9398506	0.86[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9398507	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9398508	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9398509	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9401135	0.81[ASN][1000 genomes]
rs9401136	0.87[AMR][1000 genomes]
rs9489650	0.93[ASN][1000 genomes]
rs980818	0.81[CHB][hapmap]
rs998194	0.92[CHB][hapmap]

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	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
3	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
4	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
5	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:71 , 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	chr6:119636000-119661600	Weak transcription	Colonic Mucosa	Colon
4	chr6:119636200-119650800	Weak transcription	Placenta	Placenta
5	chr6:119636200-119661600	Weak transcription	NHDF-Ad	bronchial
6	chr6:119636200-119662000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr6:119636200-119667400	Weak transcription	Right Ventricle	heart
8	chr6:119636200-119667800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:119636400-119656000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr6:119636600-119655800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr6:119637200-119651200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr6:119637200-119656600	Weak transcription	Primary B cells from peripheral blood	blood
13	chr6:119639800-119655800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr6:119641000-119652200	Genic enhancers	HepG2	liver
15	chr6:119641400-119668200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr6:119642800-119656000	Weak transcription	Ovary	ovary
17	chr6:119644200-119651400	Weak transcription	Small Intestine	intestine
18	chr6:119644200-119667000	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr6:119644400-119651600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:119644600-119661800	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr6:119644800-119661400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr6:119645000-119652000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr6:119645000-119652800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr6:119645000-119659600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr6:119645000-119668200	Weak transcription	Aorta	Aorta
26	chr6:119645200-119661800	Weak transcription	Fetal Kidney	kidney
27	chr6:119645400-119650800	Weak transcription	Fetal Intestine Large	intestine
28	chr6:119645400-119653000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:119645600-119652800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:119645800-119652800	Weak transcription	NHEK	skin
31	chr6:119646200-119652000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:119646600-119654600	Genic enhancers	K562	blood
33	chr6:119646800-119654800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:119647600-119651800	Weak transcription	Left Ventricle	heart
35	chr6:119647600-119652600	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr6:119647600-119652800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr6:119647600-119662200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr6:119647600-119664400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr6:119647800-119651400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:119647800-119655800	Weak transcription	Fetal Lung	lung
41	chr6:119647800-119655800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr6:119647800-119661400	Weak transcription	Spleen	Spleen
43	chr6:119648000-119651800	Weak transcription	Fetal Intestine Small	intestine
44	chr6:119648200-119650800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr6:119648200-119650800	Weak transcription	Pancreas	Pancrea
46	chr6:119648200-119652800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr6:119648200-119652800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr6:119648200-119657000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:119648200-119661400	Weak transcription	Lung	lung
50	chr6:119648200-119668000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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