Variant report

Variant	rs56337649
Chromosome Location	chr12:82780676-82780677
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10219540	0.94[EUR][1000 genomes]
rs10431469	0.84[EUR][1000 genomes]
rs10732677	1.00[EUR][1000 genomes]
rs10735451	0.84[EUR][1000 genomes]
rs10735454	0.94[EUR][1000 genomes]
rs10735455	1.00[EUR][1000 genomes]
rs10746241	0.84[EUR][1000 genomes]
rs10746243	0.94[EUR][1000 genomes]
rs10746247	1.00[EUR][1000 genomes]
rs10746248	1.00[EUR][1000 genomes]
rs10746250	1.00[EUR][1000 genomes]
rs10746251	0.91[EUR][1000 genomes]
rs10778891	0.84[EUR][1000 genomes]
rs10778894	0.94[EUR][1000 genomes]
rs10778897	0.94[EUR][1000 genomes]
rs10778903	0.94[EUR][1000 genomes]
rs10778904	0.94[EUR][1000 genomes]
rs10778905	0.94[EUR][1000 genomes]
rs10778906	0.86[EUR][1000 genomes]
rs10778908	0.97[EUR][1000 genomes]
rs10862481	0.94[EUR][1000 genomes]
rs10862484	1.00[EUR][1000 genomes]
rs10862485	1.00[EUR][1000 genomes]
rs10862486	1.00[EUR][1000 genomes]
rs11837949	0.83[EUR][1000 genomes]
rs17009470	0.94[EUR][1000 genomes]
rs17009622	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17009629	0.83[EUR][1000 genomes]
rs17719033	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17775000	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17775447	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17775501	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17776114	0.83[EUR][1000 genomes]
rs1874058	0.91[EUR][1000 genomes]
rs2068633	0.84[EUR][1000 genomes]
rs2254688	1.00[EUR][1000 genomes]
rs2401026	1.00[EUR][1000 genomes]
rs2401027	0.94[EUR][1000 genomes]
rs2401032	0.94[EUR][1000 genomes]
rs2401039	1.00[EUR][1000 genomes]
rs2642015	1.00[EUR][1000 genomes]
rs2642017	1.00[EUR][1000 genomes]
rs2642018	1.00[EUR][1000 genomes]
rs2642019	1.00[EUR][1000 genomes]
rs2642021	0.94[EUR][1000 genomes]
rs2642023	0.94[EUR][1000 genomes]
rs2717449	0.82[EUR][1000 genomes]
rs2717459	1.00[EUR][1000 genomes]
rs2731286	1.00[EUR][1000 genomes]
rs2731288	0.94[EUR][1000 genomes]
rs2731289	0.94[EUR][1000 genomes]
rs2731290	0.94[EUR][1000 genomes]
rs2731291	0.94[EUR][1000 genomes]
rs2731292	0.94[EUR][1000 genomes]
rs2731294	0.94[EUR][1000 genomes]
rs2731295	0.94[EUR][1000 genomes]
rs2731297	0.97[EUR][1000 genomes]
rs28626834	0.94[EUR][1000 genomes]
rs2895910	1.00[EUR][1000 genomes]
rs2895911	0.94[EUR][1000 genomes]
rs2895912	0.94[EUR][1000 genomes]
rs2895915	0.94[EUR][1000 genomes]
rs4143187	1.00[EUR][1000 genomes]
rs4143190	0.84[EUR][1000 genomes]
rs41535250	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4242864	1.00[EUR][1000 genomes]
rs4242870	0.84[EUR][1000 genomes]
rs4257045	0.94[EUR][1000 genomes]
rs4284465	1.00[EUR][1000 genomes]
rs4296098	1.00[EUR][1000 genomes]
rs4334093	1.00[EUR][1000 genomes]
rs4343090	1.00[EUR][1000 genomes]
rs4356298	1.00[EUR][1000 genomes]
rs4370996	0.94[EUR][1000 genomes]
rs4387422	1.00[EUR][1000 genomes]
rs4399377	1.00[EUR][1000 genomes]
rs4417379	0.94[EUR][1000 genomes]
rs4460874	0.94[EUR][1000 genomes]
rs4471506	0.84[EUR][1000 genomes]
rs4483662	0.84[EUR][1000 genomes]
rs4505128	1.00[EUR][1000 genomes]
rs4516038	0.88[EUR][1000 genomes]
rs4517594	1.00[EUR][1000 genomes]
rs4540892	0.94[EUR][1000 genomes]
rs4553425	1.00[EUR][1000 genomes]
rs4587790	1.00[EUR][1000 genomes]
rs4628747	1.00[EUR][1000 genomes]
rs4882379	1.00[EUR][1000 genomes]
rs4882386	1.00[EUR][1000 genomes]
rs4882389	1.00[EUR][1000 genomes]
rs4882390	1.00[EUR][1000 genomes]
rs4882435	0.94[EUR][1000 genomes]
rs4882438	0.94[EUR][1000 genomes]
rs4882541	0.94[EUR][1000 genomes]
rs4882542	0.88[EUR][1000 genomes]
rs55806388	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55887136	1.00[EUR][1000 genomes]
rs6539669	0.94[EUR][1000 genomes]
rs7133956	0.83[EUR][1000 genomes]
rs7294771	0.94[EUR][1000 genomes]
rs7294903	0.94[EUR][1000 genomes]
rs7297164	1.00[EUR][1000 genomes]
rs7299307	0.88[EUR][1000 genomes]
rs7299616	1.00[EUR][1000 genomes]
rs7309442	0.94[EUR][1000 genomes]
rs7313975	1.00[EUR][1000 genomes]
rs7315834	0.84[EUR][1000 genomes]
rs7316500	0.94[EUR][1000 genomes]
rs7953161	0.83[EUR][1000 genomes]
rs7953234	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7954119	0.94[EUR][1000 genomes]
rs7954460	1.00[EUR][1000 genomes]
rs7969953	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7977443	1.00[EUR][1000 genomes]
rs8181688	0.94[EUR][1000 genomes]
rs8181705	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559539	chr12:82280797-82896218	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1041954	chr12:82314981-83008609	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv541550	chr12:82314981-83008609	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1053093	chr12:82645292-83287809	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv541551	chr12:82645292-83287809	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv559541	chr12:82715210-83108395	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv899348	chr12:82744187-83169297	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	esv1841396	chr12:82768717-82881082	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:82753400-82786200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr12:82753600-82782400	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr12:82753600-82799800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:82753600-82805200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:82753800-82804800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr12:82754000-82794800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr12:82754000-82804600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:82754200-82803600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:82754400-82782200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr12:82754400-82804000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:82754600-82782200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:82754600-82794600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr12:82755600-82802200	Weak transcription	Pancreas	Pancrea
14	chr12:82755800-82782400	Weak transcription	Gastric	stomach
15	chr12:82758200-82782400	Weak transcription	Ovary	ovary
16	chr12:82758400-82795800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:82758400-82835600	Weak transcription	Psoas Muscle	Psoas
18	chr12:82758600-82799600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr12:82761600-82790600	Weak transcription	Brain Anterior Caudate	brain
20	chr12:82761800-82792000	Weak transcription	Stomach Mucosa	stomach
21	chr12:82764000-82782400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr12:82764000-82801400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:82764200-82794000	Weak transcription	Placenta	Placenta
24	chr12:82768000-82782200	Weak transcription	Left Ventricle	heart
25	chr12:82768000-82791000	Weak transcription	Brain Angular Gyrus	brain
26	chr12:82768200-82782200	Weak transcription	Fetal Lung	lung
27	chr12:82768200-82782200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr12:82768200-82786200	Weak transcription	Fetal Intestine Large	intestine
29	chr12:82768400-82782000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr12:82768400-82784400	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr12:82768400-82811600	Weak transcription	Fetal Stomach	stomach
32	chr12:82768800-82783600	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr12:82769200-82781400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr12:82769200-82782200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr12:82769200-82782200	Weak transcription	Fetal Muscle Leg	muscle
36	chr12:82769200-82782400	Weak transcription	Aorta	Aorta
37	chr12:82769200-82784000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:82769200-82804400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr12:82769200-82809200	Weak transcription	Lung	lung
40	chr12:82769400-82782000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr12:82769400-82782200	Weak transcription	Primary T cells from cord blood	blood
42	chr12:82769400-82782200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr12:82769600-82781200	Weak transcription	Adipose Nuclei	Adipose
44	chr12:82769600-82782200	Weak transcription	Primary B cells from cord blood	blood
45	chr12:82769600-82784000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr12:82769800-82781800	Weak transcription	Liver	Liver
47	chr12:82775800-82787800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:82777800-82787800	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr12:82778200-82799400	Weak transcription	Fetal Muscle Trunk	muscle
50	chr12:82778400-82782200	Weak transcription	Esophagus	oesophagus

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