Variant report

Variant	rs10247311
Chromosome Location	chr7:84545533-84545534
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	chr7:84544371..84546770-chr7:84555059..84558105,3	K562	blood:

Extended variants
information (count: 136 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:132)

rs_ID	r²[population]
rs1016027	0.92[CEU][hapmap];0.96[GIH][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes]
rs10225455	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs10231441	0.92[CEU][hapmap];0.96[GIH][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes]
rs10237102	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10244898	0.91[EUR][1000 genomes]
rs10256889	0.90[EUR][1000 genomes]
rs10260131	0.92[CEU][hapmap]
rs10261725	0.89[CEU][hapmap];0.81[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10264465	0.85[EUR][1000 genomes]
rs10267189	0.90[EUR][1000 genomes]
rs10268216	0.90[EUR][1000 genomes]
rs10271823	0.90[EUR][1000 genomes]
rs10277834	0.96[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10281252	0.92[CEU][hapmap];0.96[GIH][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes]
rs10282482	0.95[EUR][1000 genomes]
rs10486845	0.92[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10486847	0.84[CEU][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap]
rs11760335	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11766179	0.94[EUR][1000 genomes]
rs11767793	0.92[ASN][1000 genomes]
rs11771699	0.82[AMR][1000 genomes]
rs11980498	0.87[EUR][1000 genomes]
rs11980984	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11982720	0.92[CEU][hapmap];0.85[GIH][hapmap];0.81[TSI][hapmap]
rs12154971	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12155210	0.87[ASN][1000 genomes]
rs12155292	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12707691	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12707692	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12707693	0.91[EUR][1000 genomes]
rs12707695	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12707696	0.87[EUR][1000 genomes]
rs13230423	0.91[EUR][1000 genomes]
rs13231019	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13231340	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs13232515	0.91[EUR][1000 genomes]
rs13232613	0.91[EUR][1000 genomes]
rs13232789	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13233871	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13234489	0.92[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13234914	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13240751	0.92[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13242253	0.84[AMR][1000 genomes]
rs13244179	0.91[EUR][1000 genomes]
rs13307855	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1367365	0.87[ASN][1000 genomes]
rs1468396	0.96[CEU][hapmap];0.96[GIH][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes]
rs1528621	0.91[EUR][1000 genomes]
rs1534565	0.88[EUR][1000 genomes]
rs1534566	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1534572	0.94[EUR][1000 genomes]
rs17159470	0.90[EUR][1000 genomes]
rs17558957	0.92[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17559084	0.92[CEU][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17559978	0.92[CEU][hapmap];0.89[GIH][hapmap];0.85[MEX][hapmap];0.81[TSI][hapmap]
rs17639510	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17639600	0.92[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1835403	0.87[ASN][1000 genomes]
rs1919282	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1982019	0.83[ASN][1000 genomes]
rs2040954	0.91[CEU][hapmap];0.93[GIH][hapmap];0.86[TSI][hapmap]
rs2040957	0.85[CEU][hapmap];0.96[GIH][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs2099203	0.87[ASN][1000 genomes]
rs2103312	0.89[CEU][hapmap];0.97[TSI][hapmap];0.91[EUR][1000 genomes]
rs2141415	0.91[EUR][1000 genomes]
rs2158727	0.92[CEU][hapmap];0.93[GIH][hapmap];0.90[MEX][hapmap];0.85[TSI][hapmap]
rs2178236	0.91[EUR][1000 genomes]
rs2190211	0.92[CEU][hapmap]
rs2214820	0.92[CEU][hapmap];0.89[GIH][hapmap];0.85[MEX][hapmap];0.81[TSI][hapmap]
rs2240393	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs2286185	0.92[CEU][hapmap];0.96[GIH][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes]
rs2286190	0.92[CEU][hapmap];0.89[GIH][hapmap];0.85[MEX][hapmap];0.81[TSI][hapmap]
rs2372503	0.91[EUR][1000 genomes]
rs28819164	0.91[EUR][1000 genomes]
rs34004921	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34134012	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34462522	0.91[EUR][1000 genomes]
rs34584772	0.91[EUR][1000 genomes]
rs34905624	0.87[ASN][1000 genomes]
rs34931062	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34996468	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35003658	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35169726	0.87[ASN][1000 genomes]
rs35367762	0.82[AMR][1000 genomes]
rs35449238	0.91[EUR][1000 genomes]
rs35600623	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35826544	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35853835	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35948002	0.81[AMR][1000 genomes]
rs36201011	0.81[ASN][1000 genomes]
rs4141132	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs4560742	0.91[EUR][1000 genomes]
rs56039102	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56227953	0.83[EUR][1000 genomes]
rs57531424	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62472060	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62472062	0.94[EUR][1000 genomes]
rs62472078	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62472081	0.90[EUR][1000 genomes]
rs62472087	0.91[EUR][1000 genomes]
rs62472088	0.91[EUR][1000 genomes]
rs62472110	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6959903	0.89[EUR][1000 genomes]
rs6962714	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6965396	0.92[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs713153	0.91[EUR][1000 genomes]
rs713154	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71560707	0.91[EUR][1000 genomes]
rs7776699	0.91[EUR][1000 genomes]
rs7777682	0.91[EUR][1000 genomes]
rs7780675	0.89[CEU][hapmap];0.96[GIH][hapmap];0.85[MEX][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes]
rs7788896	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7790637	0.91[EUR][1000 genomes]
rs7790809	0.91[EUR][1000 genomes]
rs7793649	0.92[CEU][hapmap];0.96[GIH][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes]
rs7794144	0.91[EUR][1000 genomes]
rs7794619	0.91[EUR][1000 genomes]
rs7794920	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7798487	0.90[EUR][1000 genomes]
rs7800072	0.80[CEU][hapmap];0.96[GIH][hapmap];0.89[MEX][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs7801626	0.91[EUR][1000 genomes]
rs7803548	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7806400	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap]
rs7807283	0.91[EUR][1000 genomes]
rs7809383	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7811476	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs782892	0.88[ASN][1000 genomes]
rs782893	0.88[ASN][1000 genomes]
rs782902	0.87[ASN][1000 genomes]
rs9642196	0.91[EUR][1000 genomes]
rs9649071	0.87[ASN][1000 genomes]
rs9942642	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv949446	chr7:84003501-84763823	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv34238	chr7:84279023-84591966	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2422324	chr7:84530290-84944913	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	7 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	chr7:84542800-84548800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:84542800-84549400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:84542800-84557000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr7:84543200-84550600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:84544200-84546600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:84545000-84546600	Enhancers	HepG2	liver
7	chr7:84545200-84545600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr7:84545200-84545600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr7:84545200-84546200	Enhancers	Liver	Liver
10	chr7:84545200-84546200	Enhancers	Hela-S3	cervix
11	chr7:84545400-84546400	Enhancers	Fetal Intestine Large	intestine

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