Variant report

Variant	rs7972701
Chromosome Location	chr12:116986872-116986873
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10774871	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10774872	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10850662	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10850663	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11068062	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11068070	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068075	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11609040	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11609872	0.82[ASN][1000 genomes]
rs11610226	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11615960	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1394801	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1394802	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2047952	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2089222	0.90[ASN][1000 genomes]
rs2102294	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2893685	0.90[ASN][1000 genomes]
rs60521218	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6490075	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6490076	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297552	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300418	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7304300	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7315385	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954181	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7961538	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7969190	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7969566	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7976256	0.84[EUR][1000 genomes];0.93[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	nsv899540	chr12:116920503-116999861	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:116978200-116989400	Weak transcription	Esophagus	oesophagus
2	chr12:116984200-116996800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:116984200-116997000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:116985000-116987000	Enhancers	Primary B cells from peripheral blood	blood
5	chr12:116985800-116987000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:116986000-116987000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:116986200-116989600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:116986400-116987000	Enhancers	Primary B cells from cord blood	blood
9	chr12:116986400-116987000	Enhancers	Primary hematopoietic stem cells	blood
10	chr12:116986400-116988400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr12:116986600-116987600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:116986600-116987800	Weak transcription	Fetal Stomach	stomach
13	chr12:116986600-116988400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:116986600-116989600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:116986600-116990200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:116986600-116993000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:116986600-116993400	Weak transcription	Fetal Brain Male	brain
18	chr12:116986600-116994800	Weak transcription	Thymus	Thymus
19	chr12:116986800-116987600	Weak transcription	GM12878-XiMat	blood
20	chr12:116986800-116988400	Weak transcription	Fetal Thymus	thymus
21	chr12:116986800-116988800	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr12:116986800-116989000	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr12:116986800-116989200	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr12:116986800-116989400	Weak transcription	K562	blood
25	chr12:116986800-116989400	Weak transcription	NH-A	brain
26	chr12:116986800-116989600	Weak transcription	Right Ventricle	heart
27	chr12:116986800-116990000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:116986800-116990200	Weak transcription	Spleen	Spleen

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