Variant report

Variant	rs59206116
Chromosome Location	chr2:189303784-189303785
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10167709	0.85[EUR][1000 genomes]
rs10170220	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10174928	0.83[EUR][1000 genomes]
rs10180687	0.86[EUR][1000 genomes]
rs10180956	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10182377	0.86[ASN][1000 genomes]
rs10185828	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10192374	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10198025	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10199264	0.81[EUR][1000 genomes]
rs10204674	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10206167	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10209733	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10210696	0.87[EUR][1000 genomes]
rs10211189	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10931355	0.85[EUR][1000 genomes]
rs10931358	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10931359	0.81[ASN][1000 genomes]
rs1125099	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11682085	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12151691	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12329399	0.85[EUR][1000 genomes]
rs12465164	0.83[ASN][1000 genomes]
rs12465625	0.81[ASN][1000 genomes]
rs12473653	0.82[ASN][1000 genomes]
rs12693498	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12987194	0.87[EUR][1000 genomes]
rs12990374	0.83[EUR][1000 genomes]
rs13384413	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13387350	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13388723	0.81[EUR][1000 genomes]
rs13388746	0.81[EUR][1000 genomes]
rs13389155	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13389879	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13394421	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13412312	0.81[EUR][1000 genomes]
rs13415123	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13422246	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13422836	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13423891	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13426709	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13427070	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28542209	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28564315	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3890574	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4261684	0.87[EUR][1000 genomes]
rs4274570	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4340469	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4349309	0.85[EUR][1000 genomes]
rs4361092	0.87[EUR][1000 genomes]
rs4381754	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4430902	0.87[EUR][1000 genomes]
rs4458180	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4476318	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4522565	0.81[EUR][1000 genomes]
rs4640356	0.87[EUR][1000 genomes]
rs4667225	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4667226	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4667227	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4992744	0.87[EUR][1000 genomes]
rs55693630	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56072532	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58966470	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58978246	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60796263	0.83[EUR][1000 genomes]
rs6434280	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66732509	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs66923332	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6704814	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67086516	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67092191	0.81[EUR][1000 genomes]
rs67240894	0.87[EUR][1000 genomes]
rs6725860	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6727850	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6732963	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6737728	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6739162	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6743120	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6743636	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6756220	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6761769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6761785	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67750782	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67798410	0.81[EUR][1000 genomes]
rs67919447	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72907672	0.81[EUR][1000 genomes]
rs73040452	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7420700	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7561448	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7579610	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7593215	0.85[EUR][1000 genomes]
rs7595327	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7595377	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7606178	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7607063	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9288157	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][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	nsv534341	chr2:189200405-189368467	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv533786	chr2:189248503-189354495	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv584055	chr2:189266823-189493686	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189285600-189318800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:189285800-189318200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:189292400-189306200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:189293600-189308800	Weak transcription	HUVEC	blood vessel
5	chr2:189294200-189308000	Weak transcription	Ovary	ovary
6	chr2:189295600-189304200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:189297800-189303800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:189298600-189304000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:189299200-189304000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:189302800-189303800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:189303200-189306400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:189303400-189306600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr2:189303400-189308200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:189303400-189308400	Enhancers	HUES48 Cell Line	embryonic stem cell

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