Variant report

Variant	rs62149443
Chromosome Location	chr2:40685701-40685702
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:40675723..40677676-chr2:40685084..40687895,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12466482	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12470186	0.99[ASN][1000 genomes]
rs12998011	0.91[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12998614	0.99[ASN][1000 genomes]
rs2373862	0.92[ASN][1000 genomes]
rs2373863	0.92[ASN][1000 genomes]
rs2373864	0.92[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2888679	0.92[ASN][1000 genomes]
rs33992047	0.88[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs35732522	0.88[ASN][1000 genomes]
rs4952630	0.85[ASN][1000 genomes]
rs55742439	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs56307721	0.99[ASN][1000 genomes]
rs6544340	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6728108	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7597373	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs767154	0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv2700	chr2:40667461-40712805	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40683200-40686600	Weak transcription	Left Ventricle	heart
2	chr2:40684400-40685800	Enhancers	Rectal Smooth Muscle	rectum
3	chr2:40684800-40686400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:40685000-40685800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:40685000-40685800	Enhancers	Psoas Muscle	Psoas
6	chr2:40685000-40685800	Flanking Active TSS	Hela-S3	cervix
7	chr2:40685000-40686000	Enhancers	Right Atrium	heart
8	chr2:40685000-40686400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:40685200-40686000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:40685200-40686800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr2:40685200-40697000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr2:40685400-40685800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr2:40685400-40685800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr2:40685400-40685800	Flanking Active TSS	Fetal Heart	heart
15	chr2:40685400-40685800	Flanking Active TSS	HSMM	muscle
16	chr2:40685400-40685800	Flanking Active TSS	Osteobl	bone
17	chr2:40685600-40685800	Enhancers	H1 Cell Line	embryonic stem cell
18	chr2:40685600-40685800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:40685600-40685800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:40685600-40685800	Enhancers	Colon Smooth Muscle	Colon
21	chr2:40685600-40685800	Enhancers	Fetal Kidney	kidney
22	chr2:40685600-40685800	Enhancers	Right Ventricle	heart
23	chr2:40685600-40685800	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr2:40685600-40685800	Enhancers	HSMMtube	muscle
25	chr2:40685600-40685800	Enhancers	NHDF-Ad	bronchial

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