Variant report

Variant	rs6730494
Chromosome Location	chr2:54219186-54219187
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54213667..54216386-chr2:54218063..54220465,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACYP2-8	chr2:54218698-54219733	NONHSAT070715

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10188834	0.83[AMR][1000 genomes]
rs10190353	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10199995	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1049894	0.88[AMR][1000 genomes]
rs11125517	0.83[AMR][1000 genomes]
rs11884857	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11886366	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11887593	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11889527	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11890472	0.87[EUR][1000 genomes]
rs11891000	0.87[EUR][1000 genomes]
rs11904365	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13395751	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13401491	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13401719	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13417051	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13432387	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2112120	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2161083	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28571698	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28699646	0.88[AMR][1000 genomes]
rs3930909	0.94[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs41536750	0.88[AMR][1000 genomes]
rs58920915	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60769690	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs60776154	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6545382	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6715161	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6719990	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6723722	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6745729	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6748686	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6751340	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6761648	0.87[EUR][1000 genomes]
rs72904915	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72906704	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72906711	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72906714	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7556936	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7559651	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7583508	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7588134	0.87[AMR][1000 genomes]
rs7588319	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7608085	0.88[AMR][1000 genomes]
rs9678301	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001246	chr2:54195654-54434832	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54199000-54221600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:54199000-54228800	Weak transcription	Aorta	Aorta
3	chr2:54204400-54226400	Weak transcription	Pancreas	Pancrea
4	chr2:54205200-54222600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:54206000-54221600	Weak transcription	Thymus	Thymus
6	chr2:54206000-54226400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:54206400-54220000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr2:54208200-54221400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:54208400-54248200	Weak transcription	Lung	lung
10	chr2:54208600-54220200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:54209000-54221400	Weak transcription	Fetal Thymus	thymus
12	chr2:54209000-54221600	Weak transcription	Dnd41	blood
13	chr2:54211200-54220600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr2:54211400-54220200	Weak transcription	Primary B cells from cord blood	blood
15	chr2:54211400-54243000	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:54213600-54249800	Weak transcription	Left Ventricle	heart
17	chr2:54215000-54219200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr2:54215000-54220600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr2:54215000-54226000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:54215000-54226000	Weak transcription	HSMMtube	muscle
21	chr2:54215000-54242800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:54215200-54219200	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr2:54215200-54219400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:54215200-54220000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr2:54215200-54220000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:54215200-54220400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr2:54215200-54220400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:54215200-54225200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:54215400-54220200	Weak transcription	Primary B cells from peripheral blood	blood
30	chr2:54215400-54220200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:54216400-54242000	Weak transcription	Fetal Intestine Small	intestine
32	chr2:54216600-54226400	Weak transcription	Ovary	ovary
33	chr2:54217000-54225600	Weak transcription	Right Atrium	heart
34	chr2:54217000-54225800	Weak transcription	Psoas Muscle	Psoas
35	chr2:54217000-54226000	Weak transcription	Adipose Nuclei	Adipose
36	chr2:54217000-54226000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:54217000-54236600	Weak transcription	Brain Angular Gyrus	brain
38	chr2:54217000-54236800	Weak transcription	Brain Anterior Caudate	brain
39	chr2:54217000-54248200	Weak transcription	Gastric	stomach
40	chr2:54217200-54233800	Weak transcription	HepG2	liver
41	chr2:54217200-54239600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr2:54218400-54221600	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr2:54219000-54219200	Enhancers	Primary T cells fromperipheralblood	blood
44	chr2:54219000-54219400	Enhancers	Primary T cells from cord blood	blood
45	chr2:54219000-54221200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:54219000-54221600	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr2:54219000-54221800	Enhancers	Primary T helper cells PMA-I stimulated	--

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