Variant report

Variant	rs6978818
Chromosome Location	chr7:69444431-69444432
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 172 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:155)

rs_ID	r²[population]
rs1000874	0.87[EUR][1000 genomes]
rs10081305	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10085600	0.85[EUR][1000 genomes]
rs10085908	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10156142	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1017113	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10215914	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10216097	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10216186	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10227424	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10228786	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10229336	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10229578	0.87[EUR][1000 genomes]
rs10229588	0.85[EUR][1000 genomes]
rs10230356	0.85[EUR][1000 genomes]
rs10234106	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10234121	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10235098	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10238049	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10239569	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10243408	0.87[EUR][1000 genomes]
rs10244247	0.85[EUR][1000 genomes]
rs10244885	0.81[EUR][1000 genomes]
rs10245690	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10245749	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10248237	0.87[EUR][1000 genomes]
rs10248401	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10248606	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10251433	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10254086	0.85[EUR][1000 genomes]
rs10254871	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10256093	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10258846	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10259028	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10262102	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10266802	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10268729	0.85[EUR][1000 genomes]
rs10269267	0.85[EUR][1000 genomes]
rs10272781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10274099	0.85[EUR][1000 genomes]
rs10274419	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10275112	0.81[EUR][1000 genomes]
rs10275721	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10276322	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10276912	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10278001	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10278978	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10279669	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10281537	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10452739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487943	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10950193	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11762049	0.87[EUR][1000 genomes]
rs11762487	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11763426	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11764141	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11764397	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11764911	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11766424	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11766980	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11768151	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11769033	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11769390	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11769738	0.85[EUR][1000 genomes]
rs11770241	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11770380	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11770466	1.00[AMR][1000 genomes]
rs11770695	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11771751	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11771768	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11771899	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11772602	0.85[EUR][1000 genomes]
rs11975506	0.85[EUR][1000 genomes]
rs11979745	0.85[EUR][1000 genomes]
rs12333653	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13362851	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13362865	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13437638	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17140884	0.85[EUR][1000 genomes]
rs17140938	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17141032	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17141168	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17141181	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17141191	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17141193	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17353920	0.81[EUR][1000 genomes]
rs17361825	0.87[EUR][1000 genomes]
rs17457910	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs17458713	0.81[EUR][1000 genomes]
rs2052124	0.81[EUR][1000 genomes]
rs28393394	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28433534	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28464032	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28489338	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28496072	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28502437	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28582872	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28630917	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28657792	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2865804	0.87[EUR][1000 genomes]
rs28812289	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28864527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34080361	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3800979	0.87[EUR][1000 genomes]
rs41379648	0.85[EUR][1000 genomes]
rs4364526	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4557583	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55756263	0.85[EUR][1000 genomes]
rs56376205	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56405888	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56999082	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57493471	0.85[EUR][1000 genomes]
rs58626042	0.85[EUR][1000 genomes]
rs58666988	0.87[EUR][1000 genomes]
rs58863846	0.85[EUR][1000 genomes]
rs61370051	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6944701	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6947326	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6948174	0.94[EUR][1000 genomes]
rs6958450	0.87[EUR][1000 genomes]
rs6958714	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6961682	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6962237	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6967512	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6967788	0.85[EUR][1000 genomes]
rs6968426	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6976263	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs719294	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73154605	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73160193	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73168739	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73168740	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73168747	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73168758	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73170834	0.85[EUR][1000 genomes]
rs73170852	0.87[EUR][1000 genomes]
rs73170857	0.87[EUR][1000 genomes]
rs73170864	0.87[EUR][1000 genomes]
rs73171731	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73172903	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs740946	0.87[EUR][1000 genomes]
rs7777243	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7777621	0.87[EUR][1000 genomes]
rs7780835	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7781664	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7784950	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7797662	0.84[EUR][1000 genomes]
rs7798890	0.85[EUR][1000 genomes]
rs7801209	0.85[EUR][1000 genomes]
rs7805165	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7806413	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs917718	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs917725	0.81[EUR][1000 genomes]
rs9690738	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9690769	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021538	chr7:69130236-69575753	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv538917	chr7:69130236-69575753	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv492242	chr7:69330737-69520566	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1031593	chr7:69367316-69445052	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv538921	chr7:69367316-69445052	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv1018289	chr7:69383450-69650885	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv538922	chr7:69383450-69650885	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1034281	chr7:69403828-69548378	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv538923	chr7:69403828-69548378	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv1034182	chr7:69406172-69529294	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv538924	chr7:69406172-69529294	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	esv2758119	chr7:69412504-69594161	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	esv2759536	chr7:69412504-69594161	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv607429	chr7:69430748-69553093	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69433000-69447400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:69433000-69447400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:69442800-69444600	Weak transcription	Primary B cells from cord blood	blood
4	chr7:69443400-69446600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:69443800-69449600	Weak transcription	Left Ventricle	heart
6	chr7:69444000-69458000	Weak transcription	Pancreas	Pancrea
7	chr7:69444200-69445000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:69444200-69448400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr7:69444200-69448600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:69444400-69444600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr7:69444400-69445000	Enhancers	Fetal Heart	heart

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