Variant report

Variant	rs195093
Chromosome Location	chr6:119629624-119629625
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:119617703..119620328-chr6:119627300..119629945,2	K562	blood:
2	chr6:119609733..119612979-chr6:119627928..119630973,3	K562	blood:
3	chr6:119628759..119633610-chr6:119634034..119636665,6	MCF-7	breast:

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs1005506	0.91[JPT][hapmap]
rs10872174	0.87[ASN][1000 genomes]
rs11153815	0.81[ASN][1000 genomes]
rs12529667	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs12530171	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs1295374	0.83[ASN][1000 genomes]
rs1295375	0.81[ASN][1000 genomes]
rs1295380	0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs1295394	0.83[ASN][1000 genomes]
rs1342313	0.80[ASN][1000 genomes]
rs1418376	0.80[ASN][1000 genomes]
rs1555684	0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs171843	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs195047	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs195049	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195053	0.90[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs195054	0.92[CHB][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs195055	0.95[ASN][1000 genomes]
rs195057	0.92[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs195060	0.92[CHB][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs195061	0.93[ASN][1000 genomes]
rs195063	0.86[EUR][1000 genomes]
rs195065	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs195067	0.90[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs195068	0.82[CHB][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs195069	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs195070	0.92[CHB][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs195072	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs195073	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs195074	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs195076	0.81[EUR][1000 genomes]
rs195077	0.92[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs195081	0.81[EUR][1000 genomes]
rs195082	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs195084	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs195085	0.81[EUR][1000 genomes]
rs195087	0.87[ASN][1000 genomes]
rs1980460	0.85[ASN][1000 genomes]
rs2066350	0.80[ASN][1000 genomes]
rs2104360	0.83[ASN][1000 genomes]
rs2142885	0.86[CHB][hapmap];0.88[ASN][1000 genomes]
rs2142891	0.87[ASN][1000 genomes]
rs2295203	0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs2299877	0.85[ASN][1000 genomes]
rs2299884	0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs2357375	0.88[ASN][1000 genomes]
rs28364655	0.85[ASN][1000 genomes]
rs3778110	0.85[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs3798655	0.88[ASN][1000 genomes]
rs3822998	0.87[ASN][1000 genomes]
rs4945632	0.88[ASN][1000 genomes]
rs4945634	0.88[ASN][1000 genomes]
rs4945636	0.80[ASN][1000 genomes]
rs56095132	0.81[ASN][1000 genomes]
rs6569058	0.85[ASN][1000 genomes]
rs6569059	0.82[JPT][hapmap]
rs6569062	0.93[CHB][hapmap];0.92[JPT][hapmap];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs66524742	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6900388	0.82[ASN][1000 genomes]
rs6903155	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6903680	0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs6922115	0.88[ASN][1000 genomes]
rs6922274	0.88[ASN][1000 genomes]
rs6932066	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6933961	0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs6939774	0.85[ASN][1000 genomes]
rs72952933	0.80[ASN][1000 genomes]
rs72952941	0.80[ASN][1000 genomes]
rs7761203	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7775421	0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs9320682	0.87[ASN][1000 genomes]
rs9320683	0.87[ASN][1000 genomes]
rs9372528	0.80[ASN][1000 genomes]
rs9374785	0.83[ASN][1000 genomes]
rs9374786	0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs9374789	0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs9374790	0.82[ASN][1000 genomes]
rs9387645	0.83[ASN][1000 genomes]
rs9387647	0.82[ASN][1000 genomes]
rs9398506	0.84[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs9398507	0.83[ASN][1000 genomes]
rs9398508	0.80[ASN][1000 genomes]
rs9398509	0.80[ASN][1000 genomes]
rs9401135	0.88[ASN][1000 genomes]
rs9489650	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs980818	0.84[CHB][hapmap]
rs998194	0.86[CHB][hapmap];0.86[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	esv1794477	chr6:119609322-119633534	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	6 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	chr6:119592400-119633600	Weak transcription	Primary T cells from cord blood	blood
2	chr6:119599800-119632600	Weak transcription	Spleen	Spleen
3	chr6:119602600-119635600	Weak transcription	Esophagus	oesophagus
4	chr6:119615400-119632600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:119616400-119630200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr6:119617200-119637400	Weak transcription	Aorta	Aorta
7	chr6:119617600-119632200	Weak transcription	Right Ventricle	heart
8	chr6:119618000-119630200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:119618200-119633800	Weak transcription	Colonic Mucosa	Colon
10	chr6:119618600-119630200	Weak transcription	Small Intestine	intestine
11	chr6:119619400-119632800	Weak transcription	Ovary	ovary
12	chr6:119621600-119633600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr6:119621600-119634000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr6:119623000-119630200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr6:119623000-119632000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr6:119623400-119633600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr6:119625200-119631600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:119625200-119631600	Genic enhancers	K562	blood
19	chr6:119625200-119632800	Weak transcription	Right Atrium	heart
20	chr6:119625200-119634200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:119625200-119634200	Weak transcription	Brain Angular Gyrus	brain
22	chr6:119625200-119634400	Weak transcription	Fetal Stomach	stomach
23	chr6:119625200-119634400	Weak transcription	Thymus	Thymus
24	chr6:119625200-119635600	Weak transcription	Psoas Muscle	Psoas
25	chr6:119625200-119668600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:119627200-119636800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr6:119627400-119631200	Weak transcription	Fetal Kidney	kidney
28	chr6:119627600-119631800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:119627800-119635600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr6:119627800-119667000	Weak transcription	Gastric	stomach
31	chr6:119628000-119629800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr6:119628000-119630000	Weak transcription	Fetal Lung	lung
33	chr6:119628000-119630200	Weak transcription	Colon Smooth Muscle	Colon
34	chr6:119628000-119631400	Weak transcription	GM12878-XiMat	blood
35	chr6:119628000-119631600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:119628000-119631600	Weak transcription	Placenta	Placenta
37	chr6:119628000-119631600	Weak transcription	Left Ventricle	heart
38	chr6:119628000-119631600	Weak transcription	Pancreas	Pancrea
39	chr6:119628000-119631600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr6:119628000-119632000	Weak transcription	Brain Anterior Caudate	brain
41	chr6:119628000-119633600	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr6:119628000-119633800	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr6:119628000-119633800	Weak transcription	Fetal Muscle Leg	muscle
44	chr6:119628000-119633800	Weak transcription	Lung	lung
45	chr6:119628000-119634000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr6:119628000-119634400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr6:119628000-119635800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr6:119628200-119630600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr6:119628200-119631600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr6:119628200-119631800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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