Variant report

Variant	rs1447497
Chromosome Location	chr2:205402370-205402371
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10084275	0.81[AMR][1000 genomes]
rs10932073	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10932077	0.81[AMR][1000 genomes]
rs11675511	0.80[EUR][1000 genomes]
rs11680708	0.83[EUR][1000 genomes]
rs12474673	0.81[EUR][1000 genomes]
rs12614238	0.80[EUR][1000 genomes]
rs12986544	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13024650	0.82[EUR][1000 genomes]
rs1868068	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2197691	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6713748	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6721452	0.82[EUR][1000 genomes]
rs6731575	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv964353	chr2:205303005-205473935	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205395600-205409000	Weak transcription	Fetal Intestine Large	intestine
2	chr2:205397600-205409600	Weak transcription	Pancreas	Pancrea
3	chr2:205398200-205403000	Weak transcription	Stomach Mucosa	stomach
4	chr2:205398600-205402800	Weak transcription	NH-A	brain
5	chr2:205398600-205403000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:205398600-205409400	Weak transcription	HSMMtube	muscle
7	chr2:205398800-205403000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:205398800-205407600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:205399000-205402800	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:205399000-205402800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:205399000-205403000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr2:205399000-205403000	Weak transcription	HSMM	muscle
13	chr2:205399000-205403000	Weak transcription	Osteobl	bone
14	chr2:205399400-205402600	Weak transcription	NHDF-Ad	bronchial
15	chr2:205399400-205402800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:205399400-205403000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:205400200-205403000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:205401800-205402800	Enhancers	HUVEC	blood vessel

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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