Variant report

Variant	rs13002973
Chromosome Location	chr2:208924300-208924301
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:208924234-208924371	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000224839	TF binding region

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10193505	0.89[ASN][1000 genomes]
rs10193523	0.89[ASN][1000 genomes]
rs10497891	0.84[MEX][hapmap]
rs10497894	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10804164	0.95[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10932220	0.91[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs10932221	0.95[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs10932223	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10932225	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10932226	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10932227	0.91[ASN][1000 genomes]
rs10932228	0.95[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs11679374	0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11687255	0.89[ASN][1000 genomes]
rs11688041	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11688936	0.88[ASN][1000 genomes]
rs11694308	0.88[ASN][1000 genomes]
rs11891423	0.88[ASN][1000 genomes]
rs11893393	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12465154	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12469400	0.88[ASN][1000 genomes]
rs12612391	0.87[ASN][1000 genomes]
rs13005382	0.91[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs13387203	0.86[ASN][1000 genomes]
rs13420900	0.81[ASN][1000 genomes]
rs13421034	0.91[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs1466185	0.91[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs1545503	0.86[ASN][1000 genomes]
rs16840362	0.88[ASN][1000 genomes]
rs16840390	0.88[ASN][1000 genomes]
rs16840392	0.88[ASN][1000 genomes]
rs17598650	0.89[ASN][1000 genomes]
rs17640827	0.91[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs17641035	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs1965865	0.81[ASN][1000 genomes]
rs2084870	0.88[ASN][1000 genomes]
rs2084871	0.88[ASN][1000 genomes]
rs2100348	0.88[ASN][1000 genomes]
rs2123294	0.84[MEX][hapmap]
rs2362786	0.88[ASN][1000 genomes]
rs2362788	0.88[ASN][1000 genomes]
rs2362789	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2885599	0.88[ASN][1000 genomes]
rs2885600	0.83[ASN][1000 genomes]
rs34025579	0.86[ASN][1000 genomes]
rs34354040	0.88[ASN][1000 genomes]
rs35594487	0.81[ASN][1000 genomes]
rs35687108	0.81[EUR][1000 genomes]
rs35783183	0.86[ASN][1000 genomes]
rs35968595	0.85[ASN][1000 genomes]
rs4675722	0.88[ASN][1000 genomes]
rs4675723	0.88[ASN][1000 genomes]
rs4675724	0.88[ASN][1000 genomes]
rs4675725	0.88[ASN][1000 genomes]
rs4675726	0.88[ASN][1000 genomes]
rs55883450	0.81[ASN][1000 genomes]
rs56007263	0.88[ASN][1000 genomes]
rs56340702	0.88[ASN][1000 genomes]
rs60679550	0.81[ASN][1000 genomes]
rs6435403	0.87[ASN][1000 genomes]
rs6435404	0.88[ASN][1000 genomes]
rs6718487	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6723557	0.88[ASN][1000 genomes]
rs67351199	0.87[ASN][1000 genomes]
rs67417299	0.88[ASN][1000 genomes]
rs6757323	0.88[ASN][1000 genomes]
rs6757327	0.88[ASN][1000 genomes]
rs7424035	0.82[ASN][1000 genomes]
rs7559294	0.85[ASN][1000 genomes]
rs7559399	0.84[ASN][1000 genomes]
rs7560222	0.84[ASN][1000 genomes]
rs7573629	0.86[ASN][1000 genomes]
rs7582996	0.95[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs7583013	0.95[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs7592525	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7599531	0.95[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs7604044	0.88[ASN][1000 genomes]
rs7608939	0.85[ASN][1000 genomes]
rs7609428	0.85[ASN][1000 genomes]
rs764299	0.86[ASN][1000 genomes]
rs921554	0.86[ASN][1000 genomes]
rs921555	0.86[ASN][1000 genomes]
rs966317	0.88[ASN][1000 genomes]
rs9789442	0.84[ASN][1000 genomes]
rs9789446	0.95[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs9789586	0.95[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs9789678	0.95[CHB][hapmap];0.86[JPT][hapmap]

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	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv875743	chr2:208688648-208940023	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208912800-208929400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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