Variant report

Variant	rs4673307
Chromosome Location	chr2:205500772-205500773
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10084275	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10170405	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10174747	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10175139	0.94[EUR][1000 genomes]
rs10198136	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10490268	1.00[EUR][1000 genomes]
rs10932077	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10932079	0.98[EUR][1000 genomes]
rs10932080	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11674084	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11675511	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11675555	0.98[EUR][1000 genomes]
rs11680708	0.82[EUR][1000 genomes]
rs12474673	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12474806	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12614238	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12621786	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12694004	0.98[EUR][1000 genomes]
rs13017644	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13024650	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1861766	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1868068	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2111447	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2193449	0.98[EUR][1000 genomes]
rs2193450	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2197691	0.82[JPT][hapmap]
rs2216318	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2216319	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2334802	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6721452	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7568847	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7587284	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7590330	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7595939	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7600675	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7603507	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7609521	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs763832	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9283519	0.83[AMR][1000 genomes];0.96[EUR][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	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875722	chr2:205462099-205572718	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv875723	chr2:205489653-205612846	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1010210	chr2:205489653-206076013	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205481400-205501000	Weak transcription	Aorta	Aorta
2	chr2:205490200-205505000	Weak transcription	Left Ventricle	heart
3	chr2:205494200-205508800	Weak transcription	HSMM	muscle
4	chr2:205494200-205509800	Weak transcription	HSMMtube	muscle
5	chr2:205495000-205503200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:205500200-205500800	Enhancers	HUVEC	blood vessel
7	chr2:205500600-205501000	Weak transcription	Right Atrium	heart

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