Variant report

Variant	rs62256011
Chromosome Location	chr3:56631697-56631698
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs11130522	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1388252	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1491162	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1491167	0.89[EUR][1000 genomes]
rs17216678	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17216712	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17216754	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17288866	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17288873	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2306930	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2306931	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41276465	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41276467	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41276469	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4292200	0.83[EUR][1000 genomes]
rs56758331	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57861120	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58457441	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59835031	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59897254	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60606369	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61456176	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61654248	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61747994	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62249737	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62251182	0.92[EUR][1000 genomes]
rs62251183	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62251186	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62251188	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62251190	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62251192	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62251193	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62251197	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62251228	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62251229	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62251230	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62251233	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62251235	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62251238	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62251239	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62251240	0.81[EUR][1000 genomes]
rs62251241	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62251244	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62251245	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62254329	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62255965	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62255966	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62255967	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62255969	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62255970	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62255971	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62255972	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62255973	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62255974	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62255977	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62255978	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62255980	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62255981	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62256013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62256014	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62256017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62256018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62256019	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62256020	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62256022	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62256023	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6782254	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6788512	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6802548	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6810125	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73075746	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73081816	0.92[EUR][1000 genomes]
rs73081836	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73081850	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73083715	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73083725	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7635945	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs955247	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876817	chr3:56517253-56649282	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv460557	chr3:56594735-56661320	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv590362	chr3:56594735-56661320	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv2762329	chr3:56629678-56633892	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
5	esv2753446	chr3:56630460-56633660	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:56592400-56639800	Weak transcription	Right Ventricle	heart
2	chr3:56592400-56644800	Weak transcription	Small Intestine	intestine
3	chr3:56592800-56644600	Weak transcription	Fetal Heart	heart
4	chr3:56600600-56640000	Weak transcription	NHLF	lung
5	chr3:56603200-56650400	Weak transcription	K562	blood
6	chr3:56603600-56640000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:56605600-56639600	Weak transcription	Pancreas	Pancrea
8	chr3:56605800-56639400	Weak transcription	Spleen	Spleen
9	chr3:56605800-56639600	Weak transcription	Esophagus	oesophagus
10	chr3:56606200-56650200	Weak transcription	Colonic Mucosa	Colon
11	chr3:56607800-56639800	Weak transcription	HSMMtube	muscle
12	chr3:56607800-56650200	Weak transcription	Psoas Muscle	Psoas
13	chr3:56609400-56638600	Weak transcription	Brain Hippocampus Middle	brain
14	chr3:56616200-56633800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr3:56616400-56639400	Weak transcription	Lung	lung
16	chr3:56617200-56639200	Weak transcription	Thymus	Thymus
17	chr3:56617200-56639600	Weak transcription	Aorta	Aorta
18	chr3:56617400-56639800	Weak transcription	Colon Smooth Muscle	Colon
19	chr3:56617400-56639800	Weak transcription	Dnd41	blood
20	chr3:56618800-56631800	Weak transcription	Fetal Intestine Small	intestine
21	chr3:56619200-56639600	Weak transcription	Gastric	stomach
22	chr3:56619200-56639800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr3:56623000-56639600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr3:56624800-56639600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr3:56624800-56639800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:56625200-56633200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr3:56625200-56639600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr3:56625200-56639600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr3:56625200-56639600	Weak transcription	HMEC	breast
30	chr3:56625200-56640000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:56625200-56640000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr3:56625200-56650400	Weak transcription	NHEK	skin
33	chr3:56625200-56653400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr3:56625600-56639600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr3:56626200-56633000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr3:56626400-56656200	Weak transcription	Stomach Mucosa	stomach
37	chr3:56626800-56633400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:56627000-56632600	Strong transcription	Liver	Liver
39	chr3:56627000-56632800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr3:56627000-56633000	Strong transcription	Fetal Intestine Large	intestine
41	chr3:56627200-56633800	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr3:56627400-56634000	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr3:56627600-56639600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr3:56627800-56639800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr3:56627800-56640000	Weak transcription	GM12878-XiMat	blood
46	chr3:56628000-56638800	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr3:56628200-56632600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr3:56628200-56639600	Weak transcription	Brain Angular Gyrus	brain
49	chr3:56628200-56640000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr3:56628400-56639600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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