Variant report

Variant	rs836645
Chromosome Location	chr2:173593932-173593933
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12693011	0.87[AMR][1000 genomes]
rs1559627	0.87[AMR][1000 genomes]
rs2357806	0.87[AMR][1000 genomes]
rs2357807	0.87[AMR][1000 genomes]
rs6728765	0.87[AMR][1000 genomes]
rs864472	0.89[AMR][1000 genomes]
rs865641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv583665	chr2:173460640-173643087	Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173588800-173600200	Weak transcription	Aorta	Aorta
2	chr2:173591400-173594200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:173591400-173599800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:173592000-173594000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:173592000-173594200	Weak transcription	Fetal Intestine Small	intestine
6	chr2:173592200-173595800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:173593000-173594200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:173593000-173594200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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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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