Variant report

Variant	rs35699394
Chromosome Location	chr2:189033775-189033776
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 159 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:154)

rs_ID	r²[population]
rs10175838	0.80[EUR][1000 genomes]
rs10179836	0.80[EUR][1000 genomes]
rs10180000	0.80[EUR][1000 genomes]
rs10184703	0.80[EUR][1000 genomes]
rs10187646	0.80[EUR][1000 genomes]
rs10189197	0.80[EUR][1000 genomes]
rs10189416	0.80[EUR][1000 genomes]
rs10199261	0.83[EUR][1000 genomes]
rs10204144	0.82[EUR][1000 genomes]
rs10209424	0.80[EUR][1000 genomes]
rs10469734	0.80[EUR][1000 genomes]
rs10469735	0.80[EUR][1000 genomes]
rs10931328	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10931329	0.91[ASN][1000 genomes]
rs10931330	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931331	0.80[EUR][1000 genomes]
rs10931332	0.91[ASN][1000 genomes]
rs10931333	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10931334	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10931336	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11682297	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11684826	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11687382	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12465138	0.88[ASN][1000 genomes]
rs12468413	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693490	0.80[EUR][1000 genomes]
rs12693491	0.80[EUR][1000 genomes]
rs12693492	0.80[EUR][1000 genomes]
rs12693493	0.80[EUR][1000 genomes]
rs12693494	0.80[EUR][1000 genomes]
rs12693497	0.80[EUR][1000 genomes]
rs12987018	0.80[EUR][1000 genomes]
rs12987553	0.80[EUR][1000 genomes]
rs12992671	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12995107	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12995166	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12995727	0.80[EUR][1000 genomes]
rs12996638	0.80[ASN][1000 genomes]
rs13000379	0.80[EUR][1000 genomes]
rs13003679	0.84[EUR][1000 genomes]
rs13003972	0.80[EUR][1000 genomes]
rs13005325	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13007721	0.80[EUR][1000 genomes]
rs13011049	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13015608	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13017543	0.91[ASN][1000 genomes]
rs13021294	0.80[EUR][1000 genomes]
rs13022215	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13023212	0.84[EUR][1000 genomes]
rs13027011	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13027148	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13027220	0.84[EUR][1000 genomes]
rs13027989	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13029662	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13032231	0.80[EUR][1000 genomes]
rs13035864	1.00[ASN][1000 genomes]
rs1304011	0.86[ASN][1000 genomes]
rs13382200	0.80[EUR][1000 genomes]
rs13385282	0.82[EUR][1000 genomes]
rs13390401	0.80[EUR][1000 genomes]
rs13390524	0.80[EUR][1000 genomes]
rs13394232	0.80[EUR][1000 genomes]
rs13394422	0.80[EUR][1000 genomes]
rs13403228	0.80[EUR][1000 genomes]
rs13404958	0.80[EUR][1000 genomes]
rs13429075	0.80[EUR][1000 genomes]
rs1371517	0.88[ASN][1000 genomes]
rs1371518	0.88[ASN][1000 genomes]
rs1371526	0.85[ASN][1000 genomes]
rs1439889	0.86[ASN][1000 genomes]
rs1439894	0.88[ASN][1000 genomes]
rs1439900	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1439901	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1439903	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1439904	0.91[ASN][1000 genomes]
rs1439905	0.88[ASN][1000 genomes]
rs1821998	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2004888	0.80[EUR][1000 genomes]
rs2043946	0.91[ASN][1000 genomes]
rs2119090	0.86[ASN][1000 genomes]
rs2119091	0.88[ASN][1000 genomes]
rs2119093	0.80[ASN][1000 genomes]
rs2218148	0.80[ASN][1000 genomes]
rs2350565	0.80[ASN][1000 genomes]
rs2350566	0.94[ASN][1000 genomes]
rs2350569	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28572636	0.80[EUR][1000 genomes]
rs2882449	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34000922	0.80[EUR][1000 genomes]
rs34066981	0.80[EUR][1000 genomes]
rs34135749	0.82[EUR][1000 genomes]
rs34140900	0.82[EUR][1000 genomes]
rs34142137	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34353529	0.80[EUR][1000 genomes]
rs34358898	0.80[EUR][1000 genomes]
rs34395949	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34484855	0.86[EUR][1000 genomes]
rs34555222	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34557812	0.80[EUR][1000 genomes]
rs34575499	0.80[EUR][1000 genomes]
rs34583514	0.80[EUR][1000 genomes]
rs34762706	0.80[EUR][1000 genomes]
rs34762794	0.82[EUR][1000 genomes]
rs34836837	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35060323	0.82[EUR][1000 genomes]
rs35113537	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35143496	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35196443	0.80[EUR][1000 genomes]
rs35355034	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35442646	0.83[EUR][1000 genomes]
rs35823311	0.86[ASN][1000 genomes]
rs35877064	0.82[EUR][1000 genomes]
rs4450571	0.80[ASN][1000 genomes]
rs4535011	0.82[EUR][1000 genomes]
rs4666757	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4667213	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4667220	0.80[EUR][1000 genomes]
rs4992742	0.80[EUR][1000 genomes]
rs4992743	0.80[EUR][1000 genomes]
rs55852512	0.82[EUR][1000 genomes]
rs58176375	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61071123	0.89[ASN][1000 genomes]
rs62179560	0.91[ASN][1000 genomes]
rs6434277	0.80[EUR][1000 genomes]
rs66948063	0.80[EUR][1000 genomes]
rs66993342	0.80[EUR][1000 genomes]
rs6707875	0.88[ASN][1000 genomes]
rs6715740	1.00[ASN][1000 genomes]
rs6720002	0.80[EUR][1000 genomes]
rs6720983	0.80[EUR][1000 genomes]
rs6726233	0.80[ASN][1000 genomes]
rs67344766	0.82[EUR][1000 genomes]
rs6738105	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6742606	0.88[ASN][1000 genomes]
rs6744309	1.00[ASN][1000 genomes]
rs6745829	0.91[ASN][1000 genomes]
rs6748077	0.80[EUR][1000 genomes]
rs6749283	0.91[ASN][1000 genomes]
rs6749627	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6756131	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67621133	0.82[EUR][1000 genomes]
rs67804711	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs67804812	0.80[EUR][1000 genomes]
rs68028976	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72901602	0.86[EUR][1000 genomes]
rs72911800	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7571197	0.80[EUR][1000 genomes]
rs7571494	0.80[EUR][1000 genomes]
rs7579554	0.80[EUR][1000 genomes]
rs9288152	0.80[EUR][1000 genomes]
rs9288153	0.80[EUR][1000 genomes]
rs9808523	0.80[EUR][1000 genomes]
rs997044	0.86[ASN][1000 genomes]
rs997045	0.86[ASN][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	nsv875604	chr2:188957640-189043137	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875605	chr2:189017499-189080087	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv521460	chr2:189025977-189046900	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189030600-189039200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:189032000-189033800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr2:189032000-189034000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:189032200-189034000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:189033600-189034800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:189033600-189035000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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