Variant report

Variant	rs2119490
Chromosome Location	chr6:147566285-147566286
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:147562403..147564458-chr6:147565957..147567500,2	K562	blood:
2	chr6:147564930..147567300-chr6:147589285..147591858,2	K562	blood:
3	chr6:147565112..147568685-chr6:147569145..147570967,3	K562	blood:
4	chr6:147565658..147568685-chr6:147568738..147571330,4	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1039083	0.95[EUR][1000 genomes]
rs1039085	0.95[EUR][1000 genomes]
rs1147844	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1147845	0.92[EUR][1000 genomes]
rs1496031	1.00[CEU][hapmap];0.98[TSI][hapmap]
rs1496033	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1496034	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1660687	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1765028	0.83[GIH][hapmap];0.83[TSI][hapmap];0.80[EUR][1000 genomes]
rs2047286	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2068111	0.95[EUR][1000 genomes]
rs2218221	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2502732	0.80[EUR][1000 genomes]
rs2582925	0.97[EUR][1000 genomes]
rs2786184	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2850177	0.94[EUR][1000 genomes]
rs2850178	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs474990	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs486867	0.97[EUR][1000 genomes]
rs4896904	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs4896905	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4896906	0.86[EUR][1000 genomes]
rs4896908	0.83[EUR][1000 genomes]
rs519630	0.81[EUR][1000 genomes]
rs533201	1.00[CEU][hapmap];0.91[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs577877	0.94[EUR][1000 genomes]
rs580657	0.81[EUR][1000 genomes]
rs582437	0.86[CHB][hapmap]
rs588273	0.95[EUR][1000 genomes]
rs591355	0.80[EUR][1000 genomes]
rs597631	0.81[CEU][hapmap];0.80[EUR][1000 genomes]
rs598038	0.95[EUR][1000 genomes]
rs608147	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs614476	0.81[CEU][hapmap]
rs617975	0.97[EUR][1000 genomes]
rs618474	0.80[EUR][1000 genomes]
rs619175	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs619626	0.81[EUR][1000 genomes]
rs620715	0.81[EUR][1000 genomes]
rs633603	0.80[EUR][1000 genomes]
rs657155	0.90[ASN][1000 genomes]
rs664203	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs7748995	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9373523	0.85[ASN][1000 genomes]
rs9390458	0.84[CEU][hapmap];0.83[GIH][hapmap];0.80[TSI][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9390462	0.85[ASN][1000 genomes]
rs9399598	1.00[CEU][hapmap];0.95[TSI][hapmap];0.94[EUR][1000 genomes]
rs9403852	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9497759	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs995697	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019245	chr6:147350834-147609776	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538467	chr6:147350834-147609776	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv886752	chr6:147443480-147729477	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv886753	chr6:147526508-147680291	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv470864	chr6:147539165-147709179	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv886754	chr6:147539165-147729477	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv604840	chr6:147539165-147730324	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	esv1832155	chr6:147554900-147715464	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147526000-147572200	Weak transcription	Lung	lung
2	chr6:147527200-147570000	Weak transcription	Left Ventricle	heart
3	chr6:147527200-147572000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:147527200-147572200	Weak transcription	Esophagus	oesophagus
5	chr6:147527400-147566800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr6:147527400-147576400	Weak transcription	HSMMtube	muscle
7	chr6:147527800-147586800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr6:147528800-147572000	Weak transcription	A549	lung
9	chr6:147529000-147572200	Weak transcription	Aorta	Aorta
10	chr6:147529400-147571800	Weak transcription	Fetal Brain Male	brain
11	chr6:147530000-147572000	Weak transcription	NHEK	skin
12	chr6:147533200-147572200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr6:147534000-147572200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr6:147537600-147572200	Weak transcription	Ovary	ovary
15	chr6:147537800-147571600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr6:147538200-147572200	Weak transcription	Spleen	Spleen
17	chr6:147538400-147572200	Weak transcription	Fetal Lung	lung
18	chr6:147538800-147572200	Weak transcription	Placenta	Placenta
19	chr6:147540200-147569600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr6:147540200-147572000	Weak transcription	Thymus	Thymus
21	chr6:147542400-147590800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr6:147543800-147572200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr6:147543800-147588800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr6:147544000-147572200	Weak transcription	GM12878-XiMat	blood
25	chr6:147544200-147566800	Weak transcription	Pancreas	Pancrea
26	chr6:147544200-147574200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr6:147544400-147574800	Weak transcription	HepG2	liver
28	chr6:147545600-147571600	Weak transcription	Fetal Muscle Leg	muscle
29	chr6:147545600-147617000	Weak transcription	Small Intestine	intestine
30	chr6:147549200-147572200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:147549400-147616800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr6:147549600-147572200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr6:147549600-147578200	Weak transcription	Fetal Heart	heart
34	chr6:147549600-147584600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr6:147549600-147587200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr6:147549800-147566600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr6:147552600-147591800	Weak transcription	HUVEC	blood vessel
38	chr6:147553600-147566800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr6:147554600-147590000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr6:147556200-147574600	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr6:147556400-147568800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:147556400-147572200	Weak transcription	Brain Angular Gyrus	brain
43	chr6:147556400-147572200	Weak transcription	Gastric	stomach
44	chr6:147556800-147568600	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr6:147557000-147569800	Weak transcription	Fetal Brain Female	brain
46	chr6:147557200-147567000	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr6:147557200-147572200	Weak transcription	Brain Germinal Matrix	brain
48	chr6:147557400-147572000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr6:147557600-147571600	Weak transcription	Liver	Liver
50	chr6:147557600-147572200	Weak transcription	Colonic Mucosa	Colon

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