Variant report

Variant	rs6532495
Chromosome Location	chr4:95580281-95580282
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10031423	0.93[EUR][1000 genomes]
rs1043853	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1048627	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1056773	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11097433	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097434	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11097435	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11723532	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11724023	0.86[EUR][1000 genomes]
rs11725850	0.83[EUR][1000 genomes]
rs11732668	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11732687	0.85[EUR][1000 genomes]
rs11734014	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12331240	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12331253	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12507763	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12511111	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12641023	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12643849	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12643867	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12649976	0.80[EUR][1000 genomes]
rs12650641	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13110828	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13130496	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs14082	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1472961	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1472962	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1472963	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1543013	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2047025	0.80[EUR][1000 genomes]
rs2280002	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2902987	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34403066	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34438564	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34507709	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35959898	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3943	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4699567	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56921499	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60195134	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6532496	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6532497	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6829381	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6831015	0.81[AMR][1000 genomes]
rs6839697	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71601224	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7690296	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs951613	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][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	nsv932216	chr4:95501261-96109807	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1003860	chr4:95507683-96120619	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1005816	chr4:95573444-95902704	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95493200-95584800	Weak transcription	Primary B cells from cord blood	blood
2	chr4:95525000-95586400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:95525000-95590000	Weak transcription	Lung	lung
4	chr4:95527800-95592200	Weak transcription	Pancreas	Pancrea
5	chr4:95533800-95594200	Weak transcription	Gastric	stomach
6	chr4:95537600-95592800	Weak transcription	Fetal Stomach	stomach
7	chr4:95538000-95585200	Weak transcription	Colonic Mucosa	Colon
8	chr4:95538200-95582600	Weak transcription	Hela-S3	cervix
9	chr4:95538200-95586600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:95538600-95587000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr4:95540000-95587000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr4:95540200-95597800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr4:95541200-95595600	Weak transcription	Primary T cells from cord blood	blood
14	chr4:95543000-95586000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr4:95543000-95586400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr4:95549000-95586600	Weak transcription	Brain Hippocampus Middle	brain
17	chr4:95555200-95581800	Weak transcription	Ovary	ovary
18	chr4:95557200-95588600	Weak transcription	GM12878-XiMat	blood
19	chr4:95557400-95583800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr4:95557800-95586200	Weak transcription	Thymus	Thymus
21	chr4:95558200-95580800	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr4:95559000-95590200	Weak transcription	Right Ventricle	heart
23	chr4:95561400-95585200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr4:95563200-95584400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr4:95563600-95583400	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr4:95563600-95589000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr4:95563800-95583400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr4:95563800-95583400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:95564000-95581200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:95564000-95587000	Weak transcription	NHLF	lung
31	chr4:95564000-95595000	Weak transcription	NHDF-Ad	bronchial
32	chr4:95567800-95582200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr4:95567800-95587400	Weak transcription	HepG2	liver
34	chr4:95570000-95581800	Weak transcription	Esophagus	oesophagus
35	chr4:95570400-95581000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr4:95570800-95582800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:95570800-95599800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr4:95571400-95587400	Weak transcription	Fetal Kidney	kidney
39	chr4:95571600-95581400	Weak transcription	Fetal Muscle Leg	muscle
40	chr4:95571800-95580600	Strong transcription	HSMM	muscle
41	chr4:95572200-95583200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr4:95572200-95586400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:95572400-95588800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr4:95573600-95595000	Weak transcription	Small Intestine	intestine
45	chr4:95574600-95586200	Weak transcription	K562	blood
46	chr4:95574600-95587000	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr4:95574800-95591600	Weak transcription	Stomach Mucosa	stomach
48	chr4:95575000-95590800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr4:95575600-95580600	Strong transcription	Liver	Liver
50	chr4:95575800-95581800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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