Variant report

Variant	rs2142890
Chromosome Location	chr6:119546934-119546935
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:119539721..119541737-chr6:119545177..119547748,2	K562	blood:
2	chr6:119545894..119548762-chr6:119549327..119552049,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1104741	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11153798	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11153801	0.86[ASN][1000 genomes]
rs11153802	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11755686	0.86[ASN][1000 genomes]
rs11962211	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12207164	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12211868	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1408491	0.95[ASN][1000 genomes]
rs1408492	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1408493	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1555683	0.87[ASN][1000 genomes]
rs195046	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs195051	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs195062	0.84[EUR][1000 genomes]
rs195088	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs195091	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2064160	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2267672	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2267673	0.82[AFR][1000 genomes]
rs2267674	0.82[AFR][1000 genomes]
rs2267675	0.82[AFR][1000 genomes]
rs2299879	0.87[ASN][1000 genomes]
rs2299881	0.88[ASN][1000 genomes]
rs2357162	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2357163	0.88[ASN][1000 genomes]
rs3798609	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3798616	0.88[ASN][1000 genomes]
rs3822997	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4945633	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6569063	0.86[ASN][1000 genomes]
rs6933914	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7357047	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7357048	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs763293	0.88[ASN][1000 genomes]
rs9320684	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9385068	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9489625	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9489627	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489628	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489633	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9489654	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025995	chr6:119407742-119709548	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv886570	chr6:119450888-119600556	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1017507	chr6:119465981-119664949	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119494600-119547400	Weak transcription	Esophagus	oesophagus
2	chr6:119519200-119558400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr6:119524800-119558400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:119525400-119548600	Weak transcription	Aorta	Aorta
5	chr6:119525400-119556000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr6:119525400-119558400	Weak transcription	Small Intestine	intestine
7	chr6:119525800-119554200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr6:119525800-119555800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:119526000-119555200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:119526000-119558400	Weak transcription	Placenta	Placenta
11	chr6:119526200-119558400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr6:119528600-119551200	Weak transcription	Primary B cells from cord blood	blood
13	chr6:119531200-119552000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr6:119531600-119558400	Weak transcription	NHLF	lung
15	chr6:119537400-119547400	Weak transcription	Pancreas	Pancrea
16	chr6:119537400-119550800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:119537400-119554000	Weak transcription	Fetal Intestine Large	intestine
18	chr6:119537400-119554000	Weak transcription	Fetal Intestine Small	intestine
19	chr6:119537400-119556800	Weak transcription	Fetal Stomach	stomach
20	chr6:119537600-119558400	Weak transcription	Right Atrium	heart
21	chr6:119537800-119548400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:119537800-119555600	Weak transcription	Left Ventricle	heart
23	chr6:119537800-119558400	Weak transcription	Ovary	ovary
24	chr6:119538400-119548400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:119540000-119554800	Weak transcription	Gastric	stomach
26	chr6:119540400-119547200	Weak transcription	K562	blood
27	chr6:119541000-119558400	Weak transcription	NHEK	skin
28	chr6:119542000-119548200	Weak transcription	Liver	Liver
29	chr6:119542600-119547000	Weak transcription	HepG2	liver
30	chr6:119545000-119548800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr6:119545400-119556000	Weak transcription	Fetal Thymus	thymus
32	chr6:119545600-119551000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr6:119545600-119556000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr6:119545600-119558400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr6:119545800-119551400	Weak transcription	Adipose Nuclei	Adipose
36	chr6:119546000-119556000	Weak transcription	Fetal Lung	lung
37	chr6:119546400-119547000	Strong transcription	Primary hematopoietic stem cells	blood
38	chr6:119546400-119549000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:119546600-119547000	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr6:119546800-119547800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:119546800-119547800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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