Variant report

Variant	rs56693261
Chromosome Location	chr12:105577263-105577264
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1014502	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10431460	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1057110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1077896	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10861359	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861361	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1109433	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11112369	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11112370	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11112372	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11112375	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11112376	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11112379	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11112388	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112409	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11112412	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11112415	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11112416	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11112421	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11112423	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11112432	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11831854	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11832489	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11834277	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12228093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12228948	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12230762	0.82[ASN][1000 genomes]
rs12812433	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12815031	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12819309	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12830078	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1317955	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1373552	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1444611	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1470381	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2272495	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2293643	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2293644	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2464176	0.93[ASN][1000 genomes]
rs28549976	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34075890	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34119882	0.80[ASN][1000 genomes]
rs34983773	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35462155	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35672903	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3736628	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3794222	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3794223	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3794224	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3794227	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3817607	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3829296	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4964125	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4964334	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4964335	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4964336	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4964338	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4964339	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4964340	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4964342	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55908437	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73179994	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7485364	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs755604	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8015	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs881279	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9919746	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv870352	chr12:105557770-105589263	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105522600-105586000	Weak transcription	Stomach Mucosa	stomach
2	chr12:105524600-105578200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:105525400-105583200	Weak transcription	Fetal Heart	heart
4	chr12:105532400-105577800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:105546800-105625200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:105556200-105583400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:105557600-105578000	Weak transcription	Gastric	stomach
8	chr12:105558200-105578200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:105558200-105578400	Weak transcription	Right Ventricle	heart
10	chr12:105558200-105587200	Weak transcription	Psoas Muscle	Psoas
11	chr12:105558400-105578000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr12:105558800-105615200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr12:105559400-105578800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:105560800-105581800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr12:105561400-105598400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:105564000-105582200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr12:105565000-105577800	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:105568000-105589400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:105568200-105577800	Weak transcription	Fetal Kidney	kidney
20	chr12:105568200-105578200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr12:105568200-105578400	Weak transcription	Esophagus	oesophagus
22	chr12:105568200-105581800	Weak transcription	Small Intestine	intestine
23	chr12:105568400-105577800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:105568400-105578000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr12:105568400-105578200	Weak transcription	Pancreas	Pancrea
26	chr12:105568400-105581000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr12:105568600-105578800	Weak transcription	HepG2	liver
28	chr12:105569000-105578200	Weak transcription	Aorta	Aorta
29	chr12:105569600-105577800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:105569600-105577800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr12:105569600-105578000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr12:105569600-105578000	Weak transcription	Ovary	ovary
33	chr12:105569600-105578200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr12:105569600-105578400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr12:105569600-105578400	Weak transcription	Spleen	Spleen
36	chr12:105569600-105581000	Weak transcription	Hela-S3	cervix
37	chr12:105569800-105578200	Weak transcription	Dnd41	blood
38	chr12:105570000-105577800	Weak transcription	Thymus	Thymus
39	chr12:105570000-105578000	Weak transcription	Lung	lung
40	chr12:105570000-105579000	Weak transcription	NHEK	skin
41	chr12:105570200-105577800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr12:105570200-105579000	Weak transcription	Brain Angular Gyrus	brain
43	chr12:105570400-105577800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr12:105570400-105578000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr12:105570400-105578400	Weak transcription	Colonic Mucosa	Colon
46	chr12:105570600-105578000	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr12:105570800-105577800	Weak transcription	Fetal Muscle Leg	muscle
48	chr12:105570800-105578000	Weak transcription	Rectal Smooth Muscle	rectum
49	chr12:105570800-105579200	Weak transcription	HSMMtube	muscle
50	chr12:105571000-105577800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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