Variant report

Variant	rs195057
Chromosome Location	chr6:119648851-119648852
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:119646815..119653075-chr6:119668578..119671016,6	K562	blood:
2	chr6:119648699..119654492-chr6:119662714..119668241,6	K562	blood:
3	chr6:119645412..119648309-chr6:119648724..119650771,3	K562	blood:

Variant related genes	Relation type
ENSG00000111885	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs1005506	0.89[CEU][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap]
rs10872174	0.83[ASN][1000 genomes]
rs11153815	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12526344	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12529667	0.88[CEU][hapmap];0.80[CHB][hapmap];0.87[CHD][hapmap];0.92[JPT][hapmap];0.94[MEX][hapmap];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12530171	0.88[CEU][hapmap];0.80[CHB][hapmap];0.87[CHD][hapmap];0.92[JPT][hapmap];0.94[MEX][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1295374	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1295375	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1295380	0.88[CEU][hapmap];0.80[CHB][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1295394	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1342313	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1418376	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1555684	0.89[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap];0.94[YRI][hapmap];0.83[ASN][1000 genomes]
rs171843	1.00[CEU][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs195047	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs195049	0.94[ASN][1000 genomes]
rs195050	0.86[AMR][1000 genomes]
rs195053	0.91[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs195054	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs195055	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs195060	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs195061	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs195063	0.89[CEU][hapmap]
rs195065	0.97[ASN][1000 genomes]
rs195067	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]
rs195068	0.92[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs195069	0.97[ASN][1000 genomes]
rs195070	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs195072	0.94[ASN][1000 genomes]
rs195073	0.97[ASN][1000 genomes]
rs195074	0.97[ASN][1000 genomes]
rs195077	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.90[MKK][hapmap];0.92[TSI][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs195081	0.89[CEU][hapmap]
rs195082	0.97[ASN][1000 genomes]
rs195084	0.97[ASN][1000 genomes]
rs195086	0.83[AMR][1000 genomes]
rs195087	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs195093	0.94[ASN][1000 genomes]
rs1980460	0.81[ASN][1000 genomes]
rs2066350	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2142885	0.93[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs2142891	0.83[ASN][1000 genomes]
rs2295203	0.88[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2299877	0.81[ASN][1000 genomes]
rs2299884	0.93[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs2357375	0.83[ASN][1000 genomes]
rs28364655	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3778110	0.88[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3798655	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3822998	0.83[ASN][1000 genomes]
rs4945632	0.82[ASN][1000 genomes]
rs4945634	0.83[ASN][1000 genomes]
rs4945636	0.83[ASN][1000 genomes]
rs56095132	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6569059	0.89[CEU][hapmap]
rs6569062	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.89[ASN][1000 genomes]
rs66524742	0.80[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6900388	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6903155	0.90[ASN][1000 genomes]
rs6903680	0.87[CEU][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6922115	0.83[ASN][1000 genomes]
rs6922274	0.83[ASN][1000 genomes]
rs6925366	0.82[AMR][1000 genomes]
rs6932066	0.94[ASN][1000 genomes]
rs6933961	0.89[CEU][hapmap];0.86[CHB][hapmap];0.94[YRI][hapmap];0.83[ASN][1000 genomes]
rs6939774	0.81[ASN][1000 genomes]
rs72952933	0.83[ASN][1000 genomes]
rs72952941	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7761203	0.82[ASN][1000 genomes]
rs7765368	0.84[MEX][hapmap]
rs7775421	0.93[CHB][hapmap];0.80[JPT][hapmap];0.81[ASN][1000 genomes]
rs9320682	0.83[ASN][1000 genomes]
rs9320683	0.83[ASN][1000 genomes]
rs9320684	0.81[JPT][hapmap]
rs9372528	0.83[ASN][1000 genomes]
rs9372531	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9374784	0.83[AMR][1000 genomes]
rs9374785	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9374786	0.88[CEU][hapmap];0.80[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9374789	0.88[CEU][hapmap];0.80[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9374790	0.85[ASN][1000 genomes]
rs9385071	0.82[AMR][1000 genomes]
rs9387645	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9387647	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9387650	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9398506	0.88[CEU][hapmap];0.93[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.85[TSI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9398507	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9398508	0.83[ASN][1000 genomes]
rs9398509	0.83[ASN][1000 genomes]
rs9401135	0.83[ASN][1000 genomes]
rs9401136	0.85[AMR][1000 genomes]
rs9489650	0.94[ASN][1000 genomes]
rs980818	0.85[CHB][hapmap]
rs998194	0.93[CHB][hapmap];0.81[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	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:72 , 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	chr6:119637000-119649000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr6:119637200-119651200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr6:119637200-119656600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr6:119639800-119655800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr6:119641000-119652200	Genic enhancers	HepG2	liver
16	chr6:119641400-119668200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr6:119642800-119656000	Weak transcription	Ovary	ovary
18	chr6:119644200-119649000	Weak transcription	Right Atrium	heart
19	chr6:119644200-119651400	Weak transcription	Small Intestine	intestine
20	chr6:119644200-119667000	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr6:119644400-119651600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:119644600-119661800	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr6:119644800-119661400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr6:119645000-119652000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr6:119645000-119652800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr6:119645000-119659600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr6:119645000-119668200	Weak transcription	Aorta	Aorta
28	chr6:119645200-119661800	Weak transcription	Fetal Kidney	kidney
29	chr6:119645400-119649000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr6:119645400-119650800	Weak transcription	Fetal Intestine Large	intestine
31	chr6:119645400-119653000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:119645600-119652800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:119645800-119652800	Weak transcription	NHEK	skin
34	chr6:119646200-119652000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:119646600-119654600	Genic enhancers	K562	blood
36	chr6:119646800-119654800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:119647200-119649200	Weak transcription	Colon Smooth Muscle	Colon
38	chr6:119647600-119650200	Genic enhancers	Liver	Liver
39	chr6:119647600-119651800	Weak transcription	Left Ventricle	heart
40	chr6:119647600-119652600	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr6:119647600-119652800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr6:119647600-119662200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr6:119647600-119664400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr6:119647800-119650600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr6:119647800-119651400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:119647800-119655800	Weak transcription	Fetal Lung	lung
47	chr6:119647800-119655800	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr6:119647800-119661400	Weak transcription	Spleen	Spleen
49	chr6:119648000-119649000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr6:119648000-119651800	Weak transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links