Variant report

Variant	rs57861120
Chromosome Location	chr3:56611340-56611341
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
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];0.82[ASN][1000 genomes]
rs17216678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17216712	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17216754	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17288866	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17288873	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2306930	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2306931	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41276465	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41276467	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41276469	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4292200	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56758331	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58457441	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59835031	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59897254	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60606369	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61456176	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61654248	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61747994	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62249737	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62251182	0.92[EUR][1000 genomes]
rs62251183	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62251186	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62251188	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62251190	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62251192	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62251193	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62251197	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62251228	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62251229	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62251230	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62251233	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62251235	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62251238	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62251239	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62251240	0.81[EUR][1000 genomes]
rs62251241	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62251244	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62251245	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62254329	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62255965	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62255966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62255967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62255969	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62255970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62255971	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62255972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62255973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62255974	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62255977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62255978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62255980	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62255981	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62256011	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62256013	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62256014	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62256017	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62256018	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62256019	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62256020	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62256022	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62256023	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6782254	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6788512	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6802548	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6810125	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73075746	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73081816	0.92[EUR][1000 genomes]
rs73081836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73081850	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73083715	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73083725	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7635945	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs955247	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347557	chr3:56466500-56619322	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv822097	chr3:56607112-56620842	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv435762	chr3:56607518-56622066	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv19690	chr3:56607723-56621531	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv822099	chr3:56607804-56620842	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv1827962	chr3:56607811-56617333	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv1830828	chr3:56607811-56617333	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv1832534	chr3:56607811-56617333	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv1831026	chr3:56607811-56620106	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv1832365	chr3:56607811-56620106	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv1826366	chr3:56607826-56620842	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv1830577	chr3:56607826-56620842	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv963260	chr3:56608026-56620152	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv1825630	chr3:56608033-56620106	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv1827186	chr3:56608033-56620106	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv1827416	chr3:56608033-56620106	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	nsv528087	chr3:56608033-56628031	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:56592000-56615600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:56592400-56615600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:56592400-56639800	Weak transcription	Right Ventricle	heart
4	chr3:56592400-56644800	Weak transcription	Small Intestine	intestine
5	chr3:56592800-56644600	Weak transcription	Fetal Heart	heart
6	chr3:56593200-56616400	Weak transcription	Colon Smooth Muscle	Colon
7	chr3:56600600-56640000	Weak transcription	NHLF	lung
8	chr3:56601800-56615800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr3:56602400-56616200	Weak transcription	Dnd41	blood
10	chr3:56603000-56631600	Weak transcription	Fetal Brain Male	brain
11	chr3:56603200-56616600	Weak transcription	GM12878-XiMat	blood
12	chr3:56603200-56650400	Weak transcription	K562	blood
13	chr3:56603600-56612200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr3:56603600-56615800	Weak transcription	Gastric	stomach
15	chr3:56603600-56640000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr3:56603800-56615600	Weak transcription	Brain Germinal Matrix	brain
17	chr3:56604200-56615600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr3:56604200-56627600	Weak transcription	Brain Angular Gyrus	brain
19	chr3:56604600-56615800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr3:56604600-56624600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr3:56604600-56625000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr3:56604600-56625800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr3:56604600-56627600	Weak transcription	HUVEC	blood vessel
24	chr3:56605600-56639600	Weak transcription	Pancreas	Pancrea
25	chr3:56605800-56615400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr3:56605800-56639400	Weak transcription	Spleen	Spleen
27	chr3:56605800-56639600	Weak transcription	Esophagus	oesophagus
28	chr3:56606000-56611800	Weak transcription	Fetal Stomach	stomach
29	chr3:56606000-56615600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr3:56606000-56615800	Weak transcription	Aorta	Aorta
31	chr3:56606000-56617000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr3:56606000-56627600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr3:56606000-56627600	Weak transcription	Left Ventricle	heart
34	chr3:56606000-56629200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr3:56606200-56650200	Weak transcription	Colonic Mucosa	Colon
36	chr3:56606600-56616400	Weak transcription	Placenta	Placenta
37	chr3:56606600-56617000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr3:56606600-56627800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr3:56606800-56624000	Weak transcription	Brain Substantia Nigra	brain
40	chr3:56606800-56627600	Weak transcription	Osteobl	bone
41	chr3:56607000-56616400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr3:56607000-56624200	Weak transcription	HepG2	liver
43	chr3:56607000-56624400	Weak transcription	NH-A	brain
44	chr3:56607400-56616200	Weak transcription	Fetal Intestine Small	intestine
45	chr3:56607600-56615800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr3:56607600-56616400	Weak transcription	Hela-S3	cervix
47	chr3:56607600-56616600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:56607600-56616600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr3:56607600-56627200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr3:56607800-56615600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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