Variant report

Variant	rs60251658
Chromosome Location	chr2:190025662-190025663
allele	C/T
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]
rs10191420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
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]
rs6414124	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6723725	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	chr2:190018800-190029600	Weak transcription	Ovary	ovary
6	chr2:190019400-190027000	Weak transcription	Fetal Stomach	stomach
7	chr2:190019400-190028400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:190019600-190040000	Weak transcription	Fetal Intestine Small	intestine
9	chr2:190021000-190026600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:190021000-190028000	Weak transcription	Fetal Heart	heart
11	chr2:190021000-190031400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:190022800-190026200	Weak transcription	HSMM	muscle
13	chr2:190023200-190028400	Weak transcription	HUVEC	blood vessel
14	chr2:190023400-190026600	Weak transcription	NH-A	brain
15	chr2:190023800-190026200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:190024000-190026600	Weak transcription	HSMMtube	muscle
17	chr2:190024200-190027000	Weak transcription	Osteobl	bone
18	chr2:190024400-190027600	Weak transcription	Fetal Lung	lung
19	chr2:190024400-190028000	Weak transcription	NHLF	lung
20	chr2:190024600-190026600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:190025200-190026400	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:190025200-190026600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:190025200-190026800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:190025200-190026800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr2:190025400-190026000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:190025400-190026800	Weak transcription	A549	lung
27	chr2:190025400-190027200	Weak transcription	NHDF-Ad	bronchial
28	chr2:190025400-190028000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:190025400-190028200	Weak transcription	Adipose Nuclei	Adipose
30	chr2:190025600-190026000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:190025600-190026200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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