Variant report

Variant	rs852982
Chromosome Location	chr5:142705421-142705422
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10052957	0.93[ASW][hapmap];0.96[CEU][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10482614	0.82[ASN][1000 genomes]
rs10482633	0.82[GIH][hapmap]
rs10482642	0.85[GIH][hapmap]
rs10482689	0.85[GIH][hapmap]
rs10515521	0.82[GIH][hapmap]
rs11740792	0.82[GIH][hapmap]
rs11747997	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11749561	1.00[JPT][hapmap]
rs1438732	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1635475	0.80[ASN][1000 genomes]
rs17339831	0.85[GIH][hapmap]
rs174048	0.95[ASN][1000 genomes]
rs174050	0.95[ASN][1000 genomes]
rs1837262	0.86[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.94[MEX][hapmap];0.82[MKK][hapmap];0.97[TSI][hapmap];0.91[YRI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1866388	0.93[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.94[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs190488	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2043840	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs258748	0.95[ASN][1000 genomes]
rs258750	0.87[ASW][hapmap];0.92[CEU][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs258751	0.95[ASN][1000 genomes]
rs258752	0.80[ASN][1000 genomes]
rs258753	0.80[ASW][hapmap];0.92[CEU][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap]
rs258813	0.82[ASW][hapmap];0.92[CEU][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.97[TSI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs258814	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2918415	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2918416	0.87[ASW][hapmap];0.96[CEU][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2918417	0.93[ASW][hapmap];1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2918418	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2918419	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2963148	1.00[ASN][1000 genomes]
rs2963149	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]
rs2963150	1.00[ASN][1000 genomes]
rs2963151	1.00[JPT][hapmap]
rs2963153	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2963154	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs33380	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33381	1.00[ASN][1000 genomes]
rs33382	1.00[ASN][1000 genomes]
rs33389	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4128428	0.82[GIH][hapmap]
rs6188	0.87[ASW][hapmap];1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6194	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6196	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6198	0.82[GIH][hapmap]
rs6861962	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs712189	1.00[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs72801090	0.95[ASN][1000 genomes]
rs852975	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs852977	0.87[ASW][hapmap];0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs852978	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs852979	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs852984	1.00[ASN][1000 genomes]
rs853156	0.80[ASN][1000 genomes]
rs853157	1.00[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs853176	0.80[ASN][1000 genomes]
rs853179	0.83[ASN][1000 genomes]
rs853182	0.95[ASN][1000 genomes]
rs853184	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs860457	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs860458	0.95[ASN][1000 genomes]
rs864082	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs864355	0.83[ASN][1000 genomes]
rs865482	0.95[ASN][1000 genomes]
rs9324918	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]

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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:142658400-142714800	Weak transcription	Esophagus	oesophagus
2	chr5:142689000-142707600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:142692400-142710600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:142692600-142707000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr5:142693000-142707200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:142693200-142714400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr5:142693400-142721000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr5:142693600-142706600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr5:142693800-142707200	Weak transcription	Fetal Stomach	stomach
10	chr5:142693800-142747400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr5:142696400-142708200	Weak transcription	Colon Smooth Muscle	Colon
12	chr5:142697000-142705800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr5:142697200-142714600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr5:142697200-142720400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr5:142697400-142707400	Weak transcription	Ovary	ovary
16	chr5:142697600-142707200	Weak transcription	Placenta	Placenta
17	chr5:142697800-142711400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:142698200-142709200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:142698800-142707400	Weak transcription	NHEK	skin
20	chr5:142699000-142720600	Weak transcription	Hela-S3	cervix
21	chr5:142699200-142705600	Weak transcription	Dnd41	blood
22	chr5:142699200-142707600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:142699200-142721400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:142699600-142709400	Weak transcription	NHLF	lung
25	chr5:142699600-142711200	Weak transcription	NHDF-Ad	bronchial
26	chr5:142699600-142714400	Weak transcription	Osteobl	bone
27	chr5:142699600-142715800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr5:142699600-142718600	Weak transcription	Gastric	stomach
29	chr5:142699600-142720200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:142700200-142707200	Weak transcription	Fetal Intestine Small	intestine
31	chr5:142700200-142711200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr5:142701200-142714400	Weak transcription	Fetal Heart	heart
33	chr5:142701600-142708200	ZNF genes & repeats	GM12878-XiMat	blood
34	chr5:142702000-142725800	Weak transcription	Aorta	Aorta
35	chr5:142702400-142711200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr5:142702800-142705600	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr5:142702800-142705800	Enhancers	Psoas Muscle	Psoas
38	chr5:142702800-142705800	Weak transcription	A549	lung
39	chr5:142702800-142706600	Weak transcription	Primary T cells from cord blood	blood
40	chr5:142703000-142706600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr5:142703000-142709400	Weak transcription	Brain Anterior Caudate	brain
42	chr5:142703000-142711200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:142703000-142711200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr5:142703000-142727200	Weak transcription	HSMM	muscle
45	chr5:142703800-142707400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr5:142703800-142718600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr5:142704000-142706800	Weak transcription	Left Ventricle	heart
48	chr5:142704000-142707400	Weak transcription	Fetal Thymus	thymus
49	chr5:142704000-142708200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr5:142704000-142708400	ZNF genes & repeats	Primary B cells from peripheral blood	blood

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