Variant report

Variant	rs10191420
Chromosome Location	chr2:190023960-190023961
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11884504	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12473931	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1515868	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2090295	0.94[ASN][1000 genomes]
rs60251658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6414124	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6723725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[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	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	chr2:190015200-190026600	Weak transcription	Liver	Liver
2	chr2:190016000-190028200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:190016200-190027000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:190017600-190028800	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:190018600-190024000	Weak transcription	Adipose Nuclei	Adipose
6	chr2:190018800-190029600	Weak transcription	Ovary	ovary
7	chr2:190019400-190027000	Weak transcription	Fetal Stomach	stomach
8	chr2:190019400-190028400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:190019600-190025200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:190019600-190040000	Weak transcription	Fetal Intestine Small	intestine
11	chr2:190020200-190024000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:190020400-190024200	Enhancers	Osteobl	bone
13	chr2:190021000-190024000	Weak transcription	Fetal Lung	lung
14	chr2:190021000-190026600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:190021000-190028000	Weak transcription	Fetal Heart	heart
16	chr2:190021000-190031400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:190021400-190024200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:190021400-190025200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr2:190021400-190025400	Enhancers	A549	lung
20	chr2:190021600-190024200	Enhancers	Rectal Smooth Muscle	rectum
21	chr2:190022000-190024200	Enhancers	NHDF-Ad	bronchial
22	chr2:190022200-190024400	Enhancers	NHLF	lung
23	chr2:190022200-190025200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:190022200-190025600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:190022800-190024800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:190022800-190026200	Weak transcription	HSMM	muscle
27	chr2:190023200-190028400	Weak transcription	HUVEC	blood vessel
28	chr2:190023400-190026600	Weak transcription	NH-A	brain
29	chr2:190023800-190024000	Enhancers	HSMMtube	muscle
30	chr2:190023800-190024600	Enhancers	Colon Smooth Muscle	Colon
31	chr2:190023800-190026200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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