Variant report

Variant	rs12207595
Chromosome Location	chr6:119637520-119637521
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:119635721..119637766-chr6:119644163..119646597,2	K562	blood:
2	chr6:119637199..119643416-chr6:119653635..119657585,6	K562	blood:
3	chr6:119445963..119447697-chr6:119635647..119638116,2	K562	blood:
4	chr6:119636794..119639649-chr6:119653297..119655994,3	K562	blood:

Extended variants
information (count: 131 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:127)

rs_ID	r²[population]
rs1022869	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1022870	0.82[EUR][1000 genomes]
rs10456921	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10457352	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10457353	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10457355	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10457356	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10485001	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10872176	0.81[EUR][1000 genomes]
rs10872177	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11153797	0.82[EUR][1000 genomes]
rs11153800	0.91[EUR][1000 genomes]
rs11153803	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11153804	0.81[EUR][1000 genomes]
rs11153805	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11153806	0.82[EUR][1000 genomes]
rs11153807	0.81[EUR][1000 genomes]
rs11153808	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11153809	0.81[EUR][1000 genomes]
rs11153810	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11153811	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11153812	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11751945	0.91[EUR][1000 genomes]
rs11755967	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11759899	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11961647	0.83[EUR][1000 genomes]
rs11962938	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12192420	0.90[EUR][1000 genomes]
rs12198423	0.90[EUR][1000 genomes]
rs12198667	0.90[EUR][1000 genomes]
rs12205260	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12205826	0.92[EUR][1000 genomes]
rs12206472	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12210002	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12524617	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1295388	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17514051	0.81[EUR][1000 genomes]
rs1884180	0.81[EUR][1000 genomes]
rs2038769	0.81[EUR][1000 genomes]
rs2142886	0.92[EUR][1000 genomes]
rs3798620	0.81[EUR][1000 genomes]
rs3798622	0.81[EUR][1000 genomes]
rs3798623	0.81[EUR][1000 genomes]
rs3823000	0.81[EUR][1000 genomes]
rs3823003	0.81[EUR][1000 genomes]
rs3891271	0.81[EUR][1000 genomes]
rs4409209	0.81[EUR][1000 genomes]
rs4552766	0.81[EUR][1000 genomes]
rs55778105	0.86[EUR][1000 genomes]
rs6420705	0.81[EUR][1000 genomes]
rs6420706	0.81[EUR][1000 genomes]
rs6420708	0.81[EUR][1000 genomes]
rs6569065	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6569066	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6569067	0.81[EUR][1000 genomes]
rs6569068	0.81[EUR][1000 genomes]
rs6569070	0.81[EUR][1000 genomes]
rs6569071	0.81[EUR][1000 genomes]
rs6569072	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6569073	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6902335	0.81[EUR][1000 genomes]
rs6902669	0.81[EUR][1000 genomes]
rs6902792	0.81[EUR][1000 genomes]
rs6902889	0.81[EUR][1000 genomes]
rs6903249	0.81[EUR][1000 genomes]
rs6909928	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6911427	0.81[EUR][1000 genomes]
rs6911753	0.81[EUR][1000 genomes]
rs6913626	0.83[EUR][1000 genomes]
rs6913654	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6915559	0.81[EUR][1000 genomes]
rs6915947	0.81[EUR][1000 genomes]
rs6915957	0.92[EUR][1000 genomes]
rs6918089	0.81[EUR][1000 genomes]
rs6920832	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6922559	0.81[EUR][1000 genomes]
rs6923181	0.81[EUR][1000 genomes]
rs6932241	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6934431	0.81[EUR][1000 genomes]
rs6935126	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6938540	0.82[EUR][1000 genomes]
rs715373	0.81[EUR][1000 genomes]
rs715374	0.81[EUR][1000 genomes]
rs72960631	0.86[EUR][1000 genomes]
rs72966433	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs763392	0.81[EUR][1000 genomes]
rs7740043	0.81[EUR][1000 genomes]
rs7740993	0.91[EUR][1000 genomes]
rs7741003	0.81[EUR][1000 genomes]
rs7741954	0.81[EUR][1000 genomes]
rs7743299	0.82[EUR][1000 genomes]
rs7743728	0.81[EUR][1000 genomes]
rs7743824	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7743979	0.81[EUR][1000 genomes]
rs7746867	0.81[EUR][1000 genomes]
rs7750041	0.83[EUR][1000 genomes]
rs7750901	0.81[EUR][1000 genomes]
rs7750941	0.81[EUR][1000 genomes]
rs7753315	0.81[EUR][1000 genomes]
rs7753492	0.90[EUR][1000 genomes]
rs7754482	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7760582	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7764238	0.81[EUR][1000 genomes]
rs7767198	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7770398	0.81[EUR][1000 genomes]
rs7770777	0.83[EUR][1000 genomes]
rs926859	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9320685	0.80[EUR][1000 genomes]
rs9320686	0.81[EUR][1000 genomes]
rs9481898	0.81[EUR][1000 genomes]
rs9481900	0.81[EUR][1000 genomes]
rs9481901	0.81[EUR][1000 genomes]
rs9489661	0.81[EUR][1000 genomes]
rs9489662	0.81[EUR][1000 genomes]
rs9489663	0.81[EUR][1000 genomes]
rs9489664	0.81[EUR][1000 genomes]
rs9489665	0.81[EUR][1000 genomes]
rs9489667	0.81[EUR][1000 genomes]
rs9489669	0.81[EUR][1000 genomes]
rs9489670	0.81[EUR][1000 genomes]
rs9489671	0.81[EUR][1000 genomes]
rs9489672	0.81[EUR][1000 genomes]
rs9489673	0.81[EUR][1000 genomes]
rs9489675	0.81[EUR][1000 genomes]
rs9489679	0.81[EUR][1000 genomes]
rs9489680	0.81[EUR][1000 genomes]
rs9489681	0.81[EUR][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	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

No data

Chromatin state (count:61 , 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	chr6:119630400-119637800	Genic enhancers	HepG2	liver
4	chr6:119631600-119637800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr6:119632000-119638400	Weak transcription	Fetal Kidney	kidney
6	chr6:119632200-119638400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:119632800-119647200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:119633000-119647200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:119633600-119637800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr6:119634000-119637600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr6:119634200-119647800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:119634400-119638400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr6:119634400-119644000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:119634600-119644200	Weak transcription	Fetal Intestine Large	intestine
15	chr6:119634600-119647200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:119634800-119643200	Weak transcription	Small Intestine	intestine
17	chr6:119634800-119646600	Weak transcription	Fetal Stomach	stomach
18	chr6:119634800-119647000	Weak transcription	Fetal Lung	lung
19	chr6:119635800-119637800	Enhancers	Primary T cells fromperipheralblood	blood
20	chr6:119635800-119645600	Weak transcription	Fetal Intestine Small	intestine
21	chr6:119636000-119643000	Weak transcription	Stomach Mucosa	stomach
22	chr6:119636000-119647200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr6:119636000-119661600	Weak transcription	Colonic Mucosa	Colon
24	chr6:119636200-119638400	Enhancers	Dnd41	blood
25	chr6:119636200-119638800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr6:119636200-119641000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr6:119636200-119643000	Weak transcription	Pancreas	Pancrea
28	chr6:119636200-119643200	Weak transcription	Lung	lung
29	chr6:119636200-119643200	Weak transcription	Right Atrium	heart
30	chr6:119636200-119647200	Weak transcription	Fetal Muscle Leg	muscle
31	chr6:119636200-119647200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr6:119636200-119647200	Weak transcription	Spleen	Spleen
33	chr6:119636200-119650800	Weak transcription	Placenta	Placenta
34	chr6:119636200-119661600	Weak transcription	NHDF-Ad	bronchial
35	chr6:119636200-119662000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr6:119636200-119667400	Weak transcription	Right Ventricle	heart
37	chr6:119636200-119667800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:119636400-119637600	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr6:119636400-119647600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr6:119636400-119647600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr6:119636400-119656000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr6:119636600-119638400	Weak transcription	Liver	Liver
43	chr6:119636600-119644400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr6:119636600-119655800	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr6:119636800-119637800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr6:119636800-119639400	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr6:119636800-119646800	Weak transcription	Colon Smooth Muscle	Colon
48	chr6:119636800-119647400	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr6:119637000-119638200	Enhancers	K562	blood
50	chr6:119637000-119639000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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