Variant report

Variant	rs2605579
Chromosome Location	chr11:93143455-93143456
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	chr11:93143294-93143791	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000221565	TF binding region
CCDC67	TF binding region

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1004417	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10831032	0.90[CHB][hapmap]
rs10831033	0.87[CHB][hapmap]
rs10831046	0.82[CHB][hapmap]
rs11020298	0.87[CHB][hapmap]
rs11020301	0.87[CHB][hapmap]
rs11020303	0.87[CHB][hapmap]
rs11020304	0.87[CHB][hapmap]
rs11020306	0.87[CHB][hapmap]
rs11020311	0.87[CHB][hapmap]
rs11020313	0.87[CHB][hapmap]
rs11020314	0.87[CHB][hapmap]
rs11020315	0.82[CHB][hapmap]
rs11020316	0.80[CHB][hapmap]
rs11020354	0.86[CHB][hapmap]
rs11020356	0.82[CHB][hapmap]
rs11020357	0.82[CHB][hapmap]
rs12271165	0.87[CHB][hapmap]
rs12273033	0.82[CHB][hapmap]
rs12276463	0.87[CHB][hapmap]
rs12280126	0.88[CHB][hapmap]
rs12281366	0.86[CHB][hapmap]
rs12284477	0.85[CHB][hapmap]
rs12285123	0.86[CHB][hapmap]
rs12285128	0.87[CHB][hapmap]
rs12286814	0.87[CHB][hapmap]
rs12287849	0.87[CHB][hapmap]
rs12288277	0.87[CHB][hapmap]
rs12289685	0.87[CHB][hapmap]
rs12289847	0.82[CHB][hapmap]
rs12292127	0.81[CHB][hapmap]
rs12292451	0.87[CHB][hapmap]
rs12292876	0.87[CHB][hapmap]
rs12293300	0.86[CHB][hapmap]
rs12293344	0.87[CHB][hapmap]
rs12295955	0.81[CHB][hapmap]
rs1456236	0.87[CHB][hapmap]
rs1456239	0.80[EUR][1000 genomes]
rs1456242	0.98[GIH][hapmap];0.80[TSI][hapmap]
rs1456244	0.88[CHD][hapmap]
rs1598546	0.91[CHB][hapmap];0.88[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes]
rs1598547	0.85[EUR][1000 genomes]
rs1869913	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1960665	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1975819	0.83[EUR][1000 genomes]
rs2124559	0.95[GIH][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs2259469	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.98[TSI][hapmap];0.90[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2259630	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2260769	0.81[AMR][1000 genomes]
rs2605575	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2605576	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2605577	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605578	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2658771	0.95[GIH][hapmap];0.91[MEX][hapmap];0.85[MKK][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2658774	0.80[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2925353	1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2925359	0.85[EUR][1000 genomes]
rs2925363	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3019203	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3019204	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3019219	0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes]
rs3019220	0.83[EUR][1000 genomes]
rs3019227	0.85[EUR][1000 genomes]
rs3019229	0.98[GIH][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs3019230	0.81[EUR][1000 genomes]
rs3020055	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3020070	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3020071	0.98[GIH][hapmap];0.91[MEX][hapmap];0.82[MKK][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3020072	0.81[EUR][1000 genomes]
rs3020075	0.98[GIH][hapmap];0.92[LWK][hapmap];0.91[MEX][hapmap];0.97[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3020080	0.82[EUR][1000 genomes]
rs7949734	0.87[CHB][hapmap]
rs7949990	0.87[CHB][hapmap]
rs977255	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039134	chr11:92790000-93219942	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv1035530	chr11:93114111-93148948	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv555941	chr11:93129893-93181050	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv439	chr11:93135936-93171682	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv508649	chr11:93140899-93181092	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1039623	chr11:93141461-93328739	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 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	chr11:93126800-93145200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:93139000-93145200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:93140000-93144800	Weak transcription	Psoas Muscle	Psoas
4	chr11:93143400-93143800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr11:93143400-93144400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr11:93143400-93144400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr11:93143400-93144600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr11:93143400-93145400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr11:93143400-93145600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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