Variant report

Variant	rs57820459
Chromosome Location	chr1:92624122-92624123
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs11164364	1.00[EUR][1000 genomes]
rs11166022	1.00[EUR][1000 genomes]
rs11166028	1.00[EUR][1000 genomes]
rs11166030	1.00[EUR][1000 genomes]
rs11166044	1.00[EUR][1000 genomes]
rs11166045	1.00[EUR][1000 genomes]
rs11166066	1.00[EUR][1000 genomes]
rs11166068	1.00[EUR][1000 genomes]
rs11166107	1.00[EUR][1000 genomes]
rs11166118	1.00[EUR][1000 genomes]
rs11166189	1.00[EUR][1000 genomes]
rs11166200	1.00[EUR][1000 genomes]
rs11166203	1.00[EUR][1000 genomes]
rs11166390	1.00[EUR][1000 genomes]
rs11166543	1.00[EUR][1000 genomes]
rs12057625	1.00[EUR][1000 genomes]
rs12057715	1.00[EUR][1000 genomes]
rs12058147	1.00[EUR][1000 genomes]
rs12059439	1.00[EUR][1000 genomes]
rs12059473	1.00[EUR][1000 genomes]
rs12059645	1.00[EUR][1000 genomes]
rs12061480	1.00[EUR][1000 genomes]
rs12061953	1.00[EUR][1000 genomes]
rs12062143	1.00[EUR][1000 genomes]
rs12063404	1.00[EUR][1000 genomes]
rs12064015	1.00[EUR][1000 genomes]
rs12064732	1.00[EUR][1000 genomes]
rs12065163	1.00[EUR][1000 genomes]
rs12065626	1.00[EUR][1000 genomes]
rs12065694	1.00[EUR][1000 genomes]
rs12066980	1.00[EUR][1000 genomes]
rs12067302	1.00[EUR][1000 genomes]
rs12068883	1.00[EUR][1000 genomes]
rs12069690	1.00[EUR][1000 genomes]
rs12070249	1.00[EUR][1000 genomes]
rs12071088	1.00[EUR][1000 genomes]
rs12073274	1.00[EUR][1000 genomes]
rs12074384	1.00[EUR][1000 genomes]
rs12076399	1.00[EUR][1000 genomes]
rs12078738	1.00[EUR][1000 genomes]
rs12080119	1.00[EUR][1000 genomes]
rs12080525	1.00[EUR][1000 genomes]
rs12085789	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12086354	1.00[EUR][1000 genomes]
rs12086426	1.00[EUR][1000 genomes]
rs12087282	1.00[EUR][1000 genomes]
rs12088142	1.00[EUR][1000 genomes]
rs12088549	1.00[EUR][1000 genomes]
rs12089666	1.00[EUR][1000 genomes]
rs12090217	1.00[EUR][1000 genomes]
rs12091427	1.00[EUR][1000 genomes]
rs12092747	1.00[EUR][1000 genomes]
rs12093038	1.00[EUR][1000 genomes]
rs12093590	1.00[EUR][1000 genomes]
rs12093905	1.00[EUR][1000 genomes]
rs12095429	1.00[EUR][1000 genomes]
rs12096979	1.00[EUR][1000 genomes]
rs12097184	1.00[EUR][1000 genomes]
rs1483020	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1483021	1.00[EUR][1000 genomes]
rs1487538	1.00[EUR][1000 genomes]
rs17131601	1.00[EUR][1000 genomes]
rs17131604	1.00[EUR][1000 genomes]
rs17131606	1.00[EUR][1000 genomes]
rs17131614	1.00[EUR][1000 genomes]
rs17131625	1.00[EUR][1000 genomes]
rs17131626	1.00[EUR][1000 genomes]
rs2046297	1.00[EUR][1000 genomes]
rs2170644	1.00[EUR][1000 genomes]
rs35166258	1.00[EUR][1000 genomes]
rs35428675	1.00[EUR][1000 genomes]
rs59366523	1.00[EUR][1000 genomes]
rs59385116	1.00[EUR][1000 genomes]
rs59800659	1.00[EUR][1000 genomes]
rs6657876	1.00[EUR][1000 genomes]
rs6679077	1.00[EUR][1000 genomes]
rs72956818	1.00[EUR][1000 genomes]
rs72956832	1.00[EUR][1000 genomes]
rs72956833	1.00[EUR][1000 genomes]
rs72956863	1.00[EUR][1000 genomes]
rs72956874	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72956893	1.00[EUR][1000 genomes]
rs72958765	1.00[EUR][1000 genomes]
rs72958768	1.00[EUR][1000 genomes]
rs72958786	1.00[EUR][1000 genomes]
rs72958791	1.00[EUR][1000 genomes]
rs72960809	1.00[EUR][1000 genomes]
rs72960813	1.00[EUR][1000 genomes]
rs72960817	1.00[EUR][1000 genomes]
rs72960824	1.00[EUR][1000 genomes]
rs72960880	1.00[EUR][1000 genomes]
rs7512045	1.00[EUR][1000 genomes]
rs7552286	1.00[EUR][1000 genomes]
rs9660398	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1007661	chr1:92220544-92655952	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv530046	chr1:92277460-92799794	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv871415	chr1:92340684-92641607	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv871144	chr1:92380302-92641607	Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv871508	chr1:92478130-92781579	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	nsv546821	chr1:92525678-92650349	ZNF genes & repeats Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92567200-92624200	Weak transcription	Fetal Stomach	stomach
2	chr1:92590200-92624400	Weak transcription	Psoas Muscle	Psoas
3	chr1:92601200-92634400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:92609800-92651200	Weak transcription	Fetal Kidney	kidney
5	chr1:92612200-92626000	Weak transcription	Thymus	Thymus
6	chr1:92613400-92645400	Weak transcription	Gastric	stomach
7	chr1:92614000-92627600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr1:92614600-92625800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:92614800-92624400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr1:92615600-92626000	Weak transcription	Brain Angular Gyrus	brain
11	chr1:92615600-92646000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:92616800-92625000	Weak transcription	Fetal Lung	lung
13	chr1:92619800-92624400	Weak transcription	Pancreas	Pancrea
14	chr1:92619800-92626000	Weak transcription	Left Ventricle	heart
15	chr1:92620600-92624800	Weak transcription	Primary T cells from cord blood	blood
16	chr1:92620600-92634400	Weak transcription	Brain Substantia Nigra	brain
17	chr1:92620600-92646000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:92620800-92624200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:92620800-92625000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr1:92620800-92625200	Weak transcription	Brain Anterior Caudate	brain
21	chr1:92620800-92633400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr1:92620800-92645800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr1:92621000-92625200	Weak transcription	Dnd41	blood
24	chr1:92621000-92646800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:92621200-92624400	Weak transcription	Liver	Liver
26	chr1:92621800-92624800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:92622000-92625800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr1:92622400-92628000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:92623000-92625000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
30	chr1:92623200-92625000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr1:92623400-92624200	Weak transcription	Ovary	ovary
32	chr1:92623400-92624400	Weak transcription	Aorta	Aorta
33	chr1:92623800-92624400	Weak transcription	Adipose Nuclei	Adipose
34	chr1:92623800-92626400	ZNF genes & repeats	Fetal Intestine Large	intestine

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