Variant report

Variant	rs6737071
Chromosome Location	chr2:190018844-190018845
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1016622	0.84[AFR][1000 genomes]
rs10931400	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10931404	0.86[EUR][1000 genomes]
rs11681286	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11691604	0.80[EUR][1000 genomes]
rs12104769	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12105389	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12611950	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12615823	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12618438	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12621035	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12621806	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12621939	0.89[EUR][1000 genomes]
rs12991770	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12993719	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12995956	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12999122	0.91[EUR][1000 genomes]
rs12999125	0.80[AFR][1000 genomes]
rs12999996	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13004722	0.82[EUR][1000 genomes]
rs13005652	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13005821	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13005834	0.82[AFR][1000 genomes]
rs13011374	0.84[EUR][1000 genomes]
rs13011485	0.82[EUR][1000 genomes]
rs13012327	0.86[EUR][1000 genomes]
rs13012649	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13015283	0.91[EUR][1000 genomes]
rs13016231	0.91[EUR][1000 genomes]
rs13017413	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13019076	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13021508	0.83[EUR][1000 genomes]
rs13022633	0.85[EUR][1000 genomes]
rs13028967	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13029705	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13031211	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13031549	0.86[EUR][1000 genomes]
rs13033421	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1356162	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1356163	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1356164	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1356165	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1356167	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1356168	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1399991	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1399992	0.86[EUR][1000 genomes]
rs1515874	0.86[EUR][1000 genomes]
rs1515876	0.86[EUR][1000 genomes]
rs1546617	0.80[AFR][1000 genomes]
rs1568334	0.82[EUR][1000 genomes]
rs1878085	0.92[EUR][1000 genomes]
rs1949484	0.91[EUR][1000 genomes]
rs1965422	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2138374	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2222256	0.91[EUR][1000 genomes]
rs2351627	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2351636	0.82[EUR][1000 genomes]
rs35475196	0.86[EUR][1000 genomes]
rs3914778	0.91[EUR][1000 genomes]
rs4233801	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4428040	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4667264	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4667265	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4667266	0.81[AFR][1000 genomes]
rs4667268	0.82[AFR][1000 genomes]
rs4667272	0.91[EUR][1000 genomes]
rs4667274	0.86[EUR][1000 genomes]
rs4667276	0.82[EUR][1000 genomes]
rs4667277	0.82[EUR][1000 genomes]
rs4998559	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60124911	0.92[EUR][1000 genomes]
rs62182416	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6434339	0.82[EUR][1000 genomes]
rs6708419	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6714088	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6719104	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6728877	0.82[AFR][1000 genomes]
rs6752781	0.80[AFR][1000 genomes]
rs7419888	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7561002	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7564611	0.85[EUR][1000 genomes]
rs7576165	0.84[EUR][1000 genomes]
rs7587147	0.91[EUR][1000 genomes]
rs7587956	0.91[EUR][1000 genomes]
rs7607133	0.86[EUR][1000 genomes]
rs7609495	0.86[EUR][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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190011200-190020800	Enhancers	NHDF-Ad	bronchial
2	chr2:190014600-190019200	Enhancers	NHLF	lung
3	chr2:190015200-190026600	Weak transcription	Liver	Liver
4	chr2:190016000-190028200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:190016200-190019200	Enhancers	Fetal Lung	lung
6	chr2:190016200-190027000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:190017000-190019400	Enhancers	Fetal Stomach	stomach
8	chr2:190017400-190019000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:190017400-190023200	Weak transcription	HSMMtube	muscle
10	chr2:190017600-190019200	Enhancers	Osteobl	bone
11	chr2:190017600-190020800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:190017600-190028800	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:190017800-190019000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:190017800-190019000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:190017800-190020000	Weak transcription	HSMM	muscle
16	chr2:190018200-190019000	Enhancers	A549	lung
17	chr2:190018400-190019200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:190018400-190019800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:190018400-190021000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:190018600-190019000	Enhancers	Fetal Heart	heart
21	chr2:190018600-190021600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:190018600-190021600	Weak transcription	NH-A	brain
23	chr2:190018600-190024000	Weak transcription	Adipose Nuclei	Adipose
24	chr2:190018800-190019200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:190018800-190019200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:190018800-190019200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:190018800-190019800	Weak transcription	Aorta	Aorta
28	chr2:190018800-190020200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:190018800-190020600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:190018800-190023800	Weak transcription	Colon Smooth Muscle	Colon
31	chr2:190018800-190029600	Weak transcription	Ovary	ovary

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