Variant report

Variant	rs2080416
Chromosome Location	chr2:206208139-206208140
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10490290	0.81[EUR][1000 genomes]
rs10490292	0.81[EUR][1000 genomes]
rs10490293	0.81[EUR][1000 genomes]
rs10804147	0.80[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10804148	0.81[EUR][1000 genomes]
rs10932104	0.86[EUR][1000 genomes]
rs10932105	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10932106	0.84[EUR][1000 genomes]
rs10932107	0.84[EUR][1000 genomes]
rs10932108	0.84[EUR][1000 genomes]
rs10932109	0.81[EUR][1000 genomes]
rs11676344	0.81[EUR][1000 genomes]
rs11676518	0.81[EUR][1000 genomes]
rs11676519	0.81[EUR][1000 genomes]
rs11676529	0.81[EUR][1000 genomes]
rs11677457	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11686270	0.81[EUR][1000 genomes]
rs11690480	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11690561	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11691342	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11691345	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11695465	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12373584	0.81[EUR][1000 genomes]
rs12373610	0.84[EUR][1000 genomes]
rs12464688	0.82[EUR][1000 genomes]
rs12468975	0.84[EUR][1000 genomes]
rs12470003	0.84[EUR][1000 genomes]
rs12470079	0.84[EUR][1000 genomes]
rs12470434	0.85[EUR][1000 genomes]
rs12472655	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12472752	0.84[EUR][1000 genomes]
rs12472815	0.84[EUR][1000 genomes]
rs12476682	0.86[EUR][1000 genomes]
rs12623757	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12989507	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12995657	0.84[EUR][1000 genomes]
rs13000324	0.84[EUR][1000 genomes]
rs13009974	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs13021602	0.84[EUR][1000 genomes]
rs13024741	0.81[EUR][1000 genomes]
rs13025702	0.93[ASN][1000 genomes]
rs13033820	0.81[EUR][1000 genomes]
rs1398053	0.81[EUR][1000 genomes]
rs1398054	0.81[EUR][1000 genomes]
rs1511873	0.84[EUR][1000 genomes]
rs1511874	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1606238	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1606239	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs17201041	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1849226	0.81[EUR][1000 genomes]
rs1861514	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1877338	0.81[EUR][1000 genomes]
rs1877339	0.81[EUR][1000 genomes]
rs1912845	0.85[EUR][1000 genomes]
rs2041877	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2080418	0.86[EUR][1000 genomes]
rs2160455	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2336420	0.84[EUR][1000 genomes]
rs2541159	0.81[ASN][1000 genomes]
rs34332011	0.81[EUR][1000 genomes]
rs34486316	0.84[EUR][1000 genomes]
rs35337631	0.84[EUR][1000 genomes]
rs3843339	0.85[EUR][1000 genomes]
rs4119079	0.83[EUR][1000 genomes]
rs4119081	0.83[EUR][1000 genomes]
rs4505506	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4595957	0.81[EUR][1000 genomes]
rs4673319	0.86[EUR][1000 genomes]
rs4673320	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4673324	0.84[EUR][1000 genomes]
rs4673325	0.84[EUR][1000 genomes]
rs4673326	0.81[EUR][1000 genomes]
rs4673327	0.81[EUR][1000 genomes]
rs4673328	0.81[EUR][1000 genomes]
rs4673329	0.81[EUR][1000 genomes]
rs4673330	0.81[EUR][1000 genomes]
rs4675519	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs62171506	0.86[EUR][1000 genomes]
rs6740963	0.84[EUR][1000 genomes]
rs6755865	0.84[EUR][1000 genomes]
rs6756234	0.83[EUR][1000 genomes]
rs6761373	0.85[EUR][1000 genomes]
rs7582340	0.86[EUR][1000 genomes]
rs849190	0.83[ASN][1000 genomes]
rs964896	0.84[EUR][1000 genomes]
rs964897	0.84[EUR][1000 genomes]
rs979187	0.88[AFR][1000 genomes];0.85[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	nsv1012780	chr2:206124954-206546271	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206186800-206217400	Weak transcription	HSMM	muscle
2	chr2:206197600-206240600	Weak transcription	Aorta	Aorta
3	chr2:206200400-206211400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:206207800-206208200	Enhancers	Fetal Lung	lung
5	chr2:206207800-206208400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:206207800-206208400	Enhancers	Fetal Heart	heart

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