Variant report

Variant	rs2963149
Chromosome Location	chr5:142725084-142725085
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:142715927..142718605-chr5:142723264..142726092,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10052957	0.81[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.87[MEX][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10482633	0.85[GIH][hapmap]
rs10482642	0.81[GIH][hapmap]
rs10482689	0.81[GIH][hapmap]
rs10515521	0.85[GIH][hapmap]
rs11740792	0.85[GIH][hapmap]
rs11747997	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11749561	0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1438732	1.00[JPT][hapmap]
rs1635474	0.82[ASN][1000 genomes]
rs17339831	0.88[GIH][hapmap]
rs1837262	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1866388	0.81[ASW][hapmap];0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.88[YRI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs190488	0.96[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2043840	1.00[JPT][hapmap]
rs258750	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.93[MEX][hapmap];0.92[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs258753	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];0.83[LWK][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.83[ASN][1000 genomes]
rs258754	0.83[ASN][1000 genomes]
rs258755	0.83[ASN][1000 genomes]
rs258763	0.80[AFR][1000 genomes]
rs258813	0.94[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.84[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs258814	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2918415	1.00[JPT][hapmap]
rs2918416	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2918417	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2918418	1.00[JPT][hapmap]
rs2918419	1.00[JPT][hapmap]
rs2963151	1.00[JPT][hapmap]
rs2963153	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2963154	1.00[JPT][hapmap]
rs33380	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs33389	1.00[JPT][hapmap]
rs4128428	0.85[GIH][hapmap]
rs6188	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6194	1.00[JPT][hapmap]
rs6196	1.00[JPT][hapmap]
rs6198	0.85[GIH][hapmap]
rs6861962	1.00[JPT][hapmap]
rs712189	0.86[JPT][hapmap]
rs72801096	0.97[ASN][1000 genomes]
rs852975	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs852977	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs852978	1.00[JPT][hapmap]
rs852979	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs852982	0.87[ASW][hapmap];1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs853154	0.85[ASN][1000 genomes]
rs853157	0.85[JPT][hapmap]
rs853177	0.87[ASN][1000 genomes]
rs853178	0.87[ASN][1000 genomes]
rs853184	1.00[JPT][hapmap]
rs860457	0.87[ASW][hapmap];0.96[CEU][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs860465	0.87[ASN][1000 genomes]
rs862489	0.87[ASN][1000 genomes]
rs864082	1.00[JPT][hapmap]
rs9324918	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1825941	chr5:142568715-142728031	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1023976	chr5:142692062-142813664	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1033408	chr5:142701353-142738882	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:142693800-142747400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:142702000-142725800	Weak transcription	Aorta	Aorta
3	chr5:142703000-142727200	Weak transcription	HSMM	muscle
4	chr5:142704200-142728800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:142705200-142725600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr5:142707400-142734800	Weak transcription	Placenta	Placenta
7	chr5:142707800-142727400	Weak transcription	Fetal Muscle Leg	muscle
8	chr5:142708000-142727200	Weak transcription	Fetal Thymus	thymus
9	chr5:142708000-142727400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr5:142708000-142728800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:142708000-142735400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:142708000-142735400	Weak transcription	Fetal Stomach	stomach
13	chr5:142708800-142726400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr5:142709000-142725600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr5:142709000-142725800	Weak transcription	Primary T cells from cord blood	blood
16	chr5:142709200-142725600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr5:142711800-142728600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:142714800-142726200	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr5:142715200-142726600	Weak transcription	HepG2	liver
20	chr5:142716000-142730200	Weak transcription	Fetal Lung	lung
21	chr5:142716400-142726400	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr5:142716600-142734200	Weak transcription	Ovary	ovary
23	chr5:142717000-142725600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr5:142718800-142725800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:142719200-142726400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr5:142719400-142725800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr5:142719400-142735400	Weak transcription	Gastric	stomach
28	chr5:142720600-142725600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:142721200-142727800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr5:142721400-142725800	Weak transcription	HSMMtube	muscle
31	chr5:142722000-142725600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:142722000-142725800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr5:142722000-142726200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr5:142722000-142726400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr5:142722000-142726400	Weak transcription	Osteobl	bone
36	chr5:142722000-142727000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:142722200-142728600	Weak transcription	HMEC	breast
38	chr5:142722400-142725400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr5:142722400-142725600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:142722400-142727200	Weak transcription	Hela-S3	cervix
41	chr5:142722400-142728800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:142722400-142728800	Weak transcription	NHEK	skin
43	chr5:142722800-142725600	Weak transcription	Brain Angular Gyrus	brain
44	chr5:142722800-142725600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr5:142722800-142735400	Weak transcription	Pancreas	Pancrea
46	chr5:142723000-142725400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr5:142723000-142725600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr5:142723000-142725600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr5:142723000-142725600	Weak transcription	Brain Substantia Nigra	brain
50	chr5:142723000-142725800	Weak transcription	Right Ventricle	heart

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