Variant report

Variant	rs712120
Chromosome Location	chr12:42582875-42582876
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1069644	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10785335	0.95[ASN][1000 genomes]
rs10785337	0.92[ASN][1000 genomes]
rs10880275	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10880279	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10880280	0.92[ASN][1000 genomes]
rs10880284	0.92[CHB][hapmap];0.80[JPT][hapmap]
rs11181461	0.84[CEU][hapmap];0.91[CHB][hapmap];0.80[JPT][hapmap];0.87[AFR][1000 genomes]
rs1118483	0.95[ASN][1000 genomes]
rs1226298	0.89[ASN][1000 genomes]
rs1226303	0.95[CEU][hapmap];0.93[JPT][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1238290	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12423383	0.92[CHB][hapmap];0.81[JPT][hapmap]
rs1463613	0.95[CEU][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1628871	0.94[CEU][hapmap];0.92[JPT][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1683198	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1683202	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1688854	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1688879	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1688884	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17091052	0.81[ASN][1000 genomes]
rs1732351	0.95[CEU][hapmap];0.87[JPT][hapmap]
rs1732352	0.95[CEU][hapmap];0.87[JPT][hapmap]
rs1826387	0.97[ASN][1000 genomes]
rs2061191	0.92[ASN][1000 genomes]
rs2061192	0.92[ASN][1000 genomes]
rs2100547	0.99[ASN][1000 genomes]
rs2198763	0.93[ASN][1000 genomes]
rs3761677	0.92[CHB][hapmap];0.80[JPT][hapmap]
rs3827524	0.90[CHB][hapmap]
rs3852592	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4402364	0.95[ASN][1000 genomes]
rs4417370	0.95[ASN][1000 genomes]
rs4768397	0.91[CHB][hapmap]
rs4768398	0.92[CHB][hapmap];0.81[JPT][hapmap]
rs4768401	0.91[CHB][hapmap];0.80[JPT][hapmap]
rs6582378	0.95[CEU][hapmap];0.87[JPT][hapmap]
rs6582385	0.90[ASN][1000 genomes]
rs6582389	0.93[ASN][1000 genomes]
rs6582392	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs712106	0.95[CEU][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs712108	0.99[ASN][1000 genomes]
rs712109	0.96[ASN][1000 genomes]
rs712112	0.94[ASN][1000 genomes]
rs712114	0.99[ASN][1000 genomes]
rs712115	0.99[ASN][1000 genomes]
rs712118	0.95[ASN][1000 genomes]
rs712119	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs712122	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs712123	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs712125	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs712129	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7134895	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs7298965	0.92[ASN][1000 genomes]
rs7302687	0.97[ASN][1000 genomes]
rs7303028	0.95[CEU][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7316575	0.97[ASN][1000 genomes]
rs7956016	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7959339	0.93[ASN][1000 genomes]
rs7960176	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7970115	1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs7978993	0.87[JPT][hapmap]
rs824697	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs824716	0.95[CEU][hapmap];0.87[JPT][hapmap]
rs824722	0.82[AMR][1000 genomes]
rs824724	0.95[CEU][hapmap];0.87[JPT][hapmap];0.86[AMR][1000 genomes]
rs824726	0.86[AMR][1000 genomes]
rs824734	0.95[CEU][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs824736	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs824738	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs824739	0.92[ASN][1000 genomes]
rs824741	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs844046	0.95[CEU][hapmap];0.93[JPT][hapmap]
rs865420	0.95[CEU][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes]
rs866091	0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42539400-42583200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr12:42539600-42586000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:42539800-42607800	Weak transcription	Pancreas	Pancrea
4	chr12:42547800-42610400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:42550600-42615800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:42552000-42604000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:42552200-42591200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr12:42552200-42613000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:42552400-42620000	Weak transcription	Fetal Brain Female	brain
10	chr12:42553600-42590000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr12:42554000-42607600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:42554600-42592200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr12:42555000-42628600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:42555200-42586000	Weak transcription	Fetal Lung	lung
15	chr12:42555200-42590000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:42555400-42598000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr12:42555600-42586400	Weak transcription	Hela-S3	cervix
18	chr12:42556800-42613200	Weak transcription	HMEC	breast
19	chr12:42557000-42604000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:42557200-42606800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:42558000-42602400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:42563200-42608000	Weak transcription	Small Intestine	intestine
23	chr12:42565400-42587400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:42566000-42588600	Weak transcription	Placenta	Placenta
25	chr12:42568400-42584400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:42568400-42623400	Weak transcription	K562	blood
27	chr12:42568600-42607800	Weak transcription	Right Ventricle	heart
28	chr12:42568800-42630600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:42569200-42586400	Weak transcription	Fetal Kidney	kidney
30	chr12:42569600-42630800	Weak transcription	Colonic Mucosa	Colon
31	chr12:42569800-42631000	Weak transcription	Gastric	stomach
32	chr12:42570400-42583800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:42570400-42586000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:42570800-42589400	Weak transcription	HSMMtube	muscle
35	chr12:42571400-42586000	Weak transcription	Adipose Nuclei	Adipose
36	chr12:42571400-42586200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr12:42571400-42591200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr12:42571400-42597600	Weak transcription	Esophagus	oesophagus
39	chr12:42571600-42585600	Weak transcription	Fetal Stomach	stomach
40	chr12:42571600-42586000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:42571600-42586000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr12:42571600-42586600	Weak transcription	Dnd41	blood
43	chr12:42571600-42586800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr12:42571600-42602400	Weak transcription	HepG2	liver
45	chr12:42573000-42585600	Weak transcription	Fetal Intestine Large	intestine
46	chr12:42573000-42585600	Weak transcription	Fetal Muscle Leg	muscle
47	chr12:42573000-42589400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr12:42573400-42587200	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr12:42574400-42585600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr12:42574400-42586000	Weak transcription	Fetal Muscle Trunk	muscle

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