Variant report

Variant	rs1597193
Chromosome Location	chr2:116232375-116232376
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1037205	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10496492	0.83[EUR][1000 genomes]
rs10496494	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11123306	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11123307	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11690107	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12990043	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13002613	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13009581	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13027502	0.83[EUR][1000 genomes]
rs1375144	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1448456	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1530689	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1597189	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1597192	0.83[EUR][1000 genomes]
rs1712000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1712002	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1839133	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2030440	0.81[ASN][1000 genomes]
rs2030441	0.81[ASN][1000 genomes]
rs2121998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4383330	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4849398	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60118669	0.85[ASN][1000 genomes]
rs6732466	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6741692	0.84[ASN][1000 genomes]
rs708647	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs708649	0.85[ASN][1000 genomes]
rs843405	0.85[ASN][1000 genomes]
rs843435	0.83[AFR][1000 genomes]
rs843436	0.82[AFR][1000 genomes]
rs950586	0.81[CEU][hapmap]

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	nsv1014859	chr2:116196951-116938584	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv963897	chr2:116230681-116241292	Enhancers ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:116231200-116232400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:116231400-116236600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:116231600-116232400	Weak transcription	Fetal Intestine Large	intestine
4	chr2:116232200-116233200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
5	chr2:116232200-116233400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:116232200-116233400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
7	chr2:116232200-116234400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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