Variant report

Variant	rs763330
Chromosome Location	chr2:186509076-186509077
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:186508722..186510476-chr2:186513123..186514706,2	K562	blood:

Extended variants
information (count: 109 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs1010838	0.87[CHB][hapmap]
rs1010839	0.87[CHB][hapmap]
rs1016410	0.88[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs10173807	0.96[CEU][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes]
rs10185794	0.85[ASN][1000 genomes]
rs10192219	0.81[EUR][1000 genomes]
rs1019429	0.87[CHB][hapmap]
rs10490390	0.87[CHB][hapmap]
rs10490391	0.87[CHB][hapmap]
rs10490392	0.87[CHB][hapmap]
rs10803992	0.86[ASN][1000 genomes]
rs10803993	0.83[ASN][1000 genomes]
rs10931178	0.96[CEU][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs10931181	0.93[EUR][1000 genomes]
rs10931188	0.81[ASN][1000 genomes]
rs10931194	0.87[CHB][hapmap]
rs1116941	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11883784	0.87[CHB][hapmap]
rs11884071	0.87[CHB][hapmap]
rs11886336	0.85[ASN][1000 genomes]
rs11893024	0.96[CEU][hapmap];1.00[GIH][hapmap];0.98[TSI][hapmap];0.84[EUR][1000 genomes]
rs11894788	0.86[CHB][hapmap]
rs11896364	0.93[EUR][1000 genomes]
rs11897513	0.90[EUR][1000 genomes]
rs11898011	0.92[EUR][1000 genomes]
rs12464911	0.87[ASN][1000 genomes]
rs12475752	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12615971	0.96[CEU][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12622188	0.94[EUR][1000 genomes]
rs12988839	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12991700	0.86[EUR][1000 genomes]
rs12992042	0.89[ASN][1000 genomes]
rs12998112	0.96[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs12999848	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13001443	0.90[EUR][1000 genomes]
rs13002387	0.90[EUR][1000 genomes]
rs13003744	0.88[EUR][1000 genomes]
rs13003900	0.90[EUR][1000 genomes]
rs13027342	0.96[CEU][hapmap];0.82[CHB][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13028347	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1468956	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1544710	0.87[CHB][hapmap]
rs16826958	0.85[ASN][1000 genomes]
rs17228483	0.87[CHB][hapmap]
rs17229201	0.87[CHB][hapmap]
rs17814545	0.87[CHB][hapmap]
rs1861896	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1986166	0.87[CHB][hapmap]
rs2216402	0.81[ASN][1000 genomes]
rs2216496	0.83[JPT][hapmap]
rs2255620	0.90[EUR][1000 genomes]
rs2287608	0.88[EUR][1000 genomes]
rs2370475	0.90[EUR][1000 genomes]
rs2887742	0.96[ASN][1000 genomes]
rs2887761	0.87[CHB][hapmap]
rs2887762	0.86[CHB][hapmap]
rs35740220	0.92[ASN][1000 genomes]
rs36035600	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36114949	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4300794	0.89[CHD][hapmap];0.95[JPT][hapmap]
rs4547499	0.87[CHB][hapmap]
rs4667047	0.81[ASN][1000 genomes]
rs4667051	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58696152	0.90[EUR][1000 genomes]
rs62199142	0.89[EUR][1000 genomes]
rs62199145	0.88[EUR][1000 genomes]
rs6434137	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6434141	0.87[CHB][hapmap]
rs6705753	0.87[CHB][hapmap]
rs6718246	0.95[EUR][1000 genomes]
rs6725306	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6729201	0.84[ASN][1000 genomes]
rs6733946	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6735082	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6745546	0.96[CEU][hapmap]
rs6749577	0.85[ASN][1000 genomes]
rs6749812	0.87[ASN][1000 genomes]
rs71407825	0.90[EUR][1000 genomes]
rs7424780	0.87[CHB][hapmap]
rs7566901	0.85[CHB][hapmap]
rs7570524	0.87[CHB][hapmap]
rs7575226	0.87[CHB][hapmap]
rs7584776	0.87[CHB][hapmap]
rs7592890	0.87[CHB][hapmap]
rs759686	0.87[ASN][1000 genomes]
rs759687	0.85[ASN][1000 genomes]
rs7602728	0.90[EUR][1000 genomes]
rs7605929	0.96[CEU][hapmap]
rs9646802	0.87[CHB][hapmap]
rs984988	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs988937	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004048	chr2:186303297-186541503	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv875540	chr2:186345148-186583961	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv875541	chr2:186345148-186598526	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1006219	chr2:186352780-186524793	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv584017	chr2:186352959-186515328	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv584018	chr2:186352959-186598526	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv916442	chr2:186356363-186534152	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1000814	chr2:186391490-186520872	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1007052	chr2:186441382-186864390	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv584019	chr2:186445393-186866874	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv1000561	chr2:186450293-186556017	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv1009118	chr2:186450293-186864390	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv1004422	chr2:186463915-186556017	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	esv2763034	chr2:186473461-186587890	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv1008230	chr2:186474069-186818718	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv536076	chr2:186474069-186818718	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	nsv584020	chr2:186475590-186661567	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv584021	chr2:186475590-186866841	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186507000-186510400	Enhancers	Fetal Intestine Small	intestine
2	chr2:186507000-186511000	Enhancers	Fetal Intestine Large	intestine
3	chr2:186507600-186511200	Enhancers	HepG2	liver
4	chr2:186508200-186510000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:186508400-186509200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:186508400-186509200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:186508400-186509200	Enhancers	Fetal Stomach	stomach
8	chr2:186509000-186509600	Weak transcription	Ovary	ovary
9	chr2:186509000-186510000	Enhancers	Cortex derived primary cultured neurospheres	brain

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