Variant report

Variant	rs10219980
Chromosome Location	chr13:92299929-92299930
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:92298019..92302029-chr13:92302074..92306168,5	K562	blood:
2	chr13:91998514..92002509-chr13:92292790..92300343,7	K562	blood:
3	chr13:92291806..92294892-chr13:92297523..92300021,4	K562	blood:
4	chr13:92008919..92012229-chr13:92298232..92301726,3	K562	blood:
5	chr13:92297056..92300246-chr13:92301325..92305110,3	K562	blood:
6	chr13:92262226..92264214-chr13:92297323..92300140,2	K562	blood:

Variant related genes	Relation type
ENSG00000215417	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10492611	0.89[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11616549	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11619422	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11841822	0.89[CEU][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11843168	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs11843202	0.89[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11843298	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1326742	0.89[CEU][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1348663	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1365874	0.88[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1365875	0.89[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1373863	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1409600	0.89[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1409602	0.88[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1409603	0.89[CEU][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1412311	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1412312	0.88[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1584154	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs163929	0.86[EUR][1000 genomes]
rs163930	0.86[EUR][1000 genomes]
rs168216	0.84[EUR][1000 genomes]
rs16946366	1.00[ASW][hapmap];0.88[CEU][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[LWK][hapmap];0.94[MEX][hapmap];0.98[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16946369	0.84[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs16946409	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16946412	0.89[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16946426	0.89[CEU][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16946431	0.86[CHD][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.95[ASN][1000 genomes]
rs16946433	0.95[ASN][1000 genomes]
rs16946459	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1822915	0.89[CEU][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1822916	0.89[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs182924	0.83[CEU][hapmap];0.87[EUR][1000 genomes]
rs182925	0.83[EUR][1000 genomes]
rs1831567	0.89[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1831568	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs184661	0.82[EUR][1000 genomes]
rs191479	0.83[CEU][hapmap];0.86[EUR][1000 genomes]
rs191480	0.82[EUR][1000 genomes]
rs1926658	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1926659	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2148530	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2209653	0.95[ASN][1000 genomes]
rs2882822	0.89[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs342671	0.87[EUR][1000 genomes]
rs342674	0.89[EUR][1000 genomes]
rs342675	0.83[CEU][hapmap];0.88[EUR][1000 genomes]
rs342676	0.86[EUR][1000 genomes]
rs342677	0.82[TSI][hapmap]
rs342679	0.85[EUR][1000 genomes]
rs342682	0.83[CEU][hapmap]
rs342683	0.83[EUR][1000 genomes]
rs342684	0.83[CEU][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes]
rs342685	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs342686	0.87[EUR][1000 genomes]
rs345435	0.87[EUR][1000 genomes]
rs3852115	0.83[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.95[ASN][1000 genomes]
rs3852116	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3864178	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3906488	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs393695	0.83[CEU][hapmap]
rs429039	0.86[EUR][1000 genomes]
rs435417	0.83[CEU][hapmap];0.87[TSI][hapmap];0.86[EUR][1000 genomes]
rs457538	0.86[EUR][1000 genomes]
rs461810	0.83[CEU][hapmap];0.87[EUR][1000 genomes]
rs466165	0.87[TSI][hapmap];0.86[EUR][1000 genomes]
rs4773643	0.88[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs523428	0.88[EUR][1000 genomes]
rs532989	0.82[EUR][1000 genomes]
rs536822	0.89[EUR][1000 genomes]
rs554857	0.88[TSI][hapmap];0.87[EUR][1000 genomes]
rs55924226	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs560759	0.83[CEU][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes]
rs57341317	0.95[ASN][1000 genomes]
rs58166883	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60635585	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60790837	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6492560	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72643211	0.94[ASN][1000 genomes]
rs72643220	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72643221	0.87[ASN][1000 genomes]
rs72643223	0.95[ASN][1000 genomes]
rs72643226	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72643228	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7321165	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7322883	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7324760	0.95[ASN][1000 genomes]
rs7337822	0.89[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs746612	0.89[CEU][hapmap];0.95[JPT][hapmap]
rs914557	0.89[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9583950	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9583952	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9589322	0.89[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9589323	0.88[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9589324	0.89[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9589326	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9589327	0.89[CEU][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9652104	0.84[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042947	chr13:91571040-92416897	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1946 gene(s)	inside rSNPs	diseases
2	nsv541871	chr13:91571040-92416897	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1946 gene(s)	inside rSNPs	diseases
3	nsv1049382	chr13:92024240-92521180	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv541873	chr13:92024240-92521180	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv562714	chr13:92056911-92304974	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1041168	chr13:92062057-92301861	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv949582	chr13:92062331-92301861	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1040707	chr13:92072034-92302281	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1040709	chr13:92173603-92318362	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv2753383	chr13:92226599-92462699	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv900882	chr13:92228446-92304974	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv529268	chr13:92267310-92531263	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92299400-92300400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr13:92299600-92300600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:92299600-92301200	Enhancers	Hela-S3	cervix
4	chr13:92299800-92300400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr13:92299800-92300600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr13:92299800-92300600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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