Variant report

Variant	rs2455456
Chromosome Location	chr5:14653491-14653492
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	chr5:14651865-14653514	H1-hESC	embryonic stem cell:	n/a	n/a
2	HEY1	chr5:14652192-14653529	K562	blood:	n/a	n/a
3	POLR2A	chr5:14651792-14653536	GM12891	blood:	n/a	n/a
4	POLR2A	chr5:14651756-14653569	GM12892	blood:	n/a	n/a
5	POLR2A	chr5:14651794-14653521	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr5:14653304-14653505	GM12878	blood:	n/a	n/a
7	POLR2A	chr5:14651786-14653533	H1-hESC	embryonic stem cell:	n/a	n/a
8	POU2F2	chr5:14652164-14653558	GM12878	blood:	n/a	n/a
9	POLR2A	chr5:14651789-14653555	Hela-S3	cervix:	n/a	n/a
10	HEY1	chr5:14653098-14653547	HepG2	liver:	n/a	n/a
11	POLR2A	chr5:14653098-14653522	Hela-S3	cervix:	n/a	n/a
12	ZBTB33	chr5:14651770-14653517	K562	blood:	n/a	n/a
13	POLR2A	chr5:14651772-14653553	GM12891	blood:	n/a	n/a
14	HEY1	chr5:14652173-14653548	HepG2	liver:	n/a	n/a
15	POLR2A	chr5:14651662-14653586	GM12892	blood:	n/a	n/a
16	POLR2A	chr5:14653177-14653510	PFSK-1	brain:	n/a	n/a
17	POLR2A	chr5:14651714-14653531	GM12878	blood:	n/a	n/a
18	POLR2A	chr5:14652168-14653557	GM12891	blood:	n/a	n/a
19	POLR2A	chr5:14651808-14653548	GM12892	blood:	n/a	n/a
20	POLR2A	chr5:14653055-14653517	GM12891	blood:	n/a	n/a
21	POLR2A	chr5:14651789-14653565	GM12878	blood:	n/a	n/a
22	GATA2	chr5:14652193-14653520	K562	blood:	n/a	n/a
23	HEY1	chr5:14651788-14653554	K562	blood:	n/a	n/a
24	POLR2A	chr5:14651769-14653557	GM12892	blood:	n/a	n/a
25	POLR2A	chr5:14651635-14653791	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr5:14653214-14653508	PANC-1	pancreas:	n/a	n/a

Variant related genes	Relation type
EEF1A1P13	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs152759	0.99[AFR][1000 genomes]
rs152785	1.00[YRI][hapmap];0.99[AFR][1000 genomes]
rs2435062	1.00[YRI][hapmap]
rs250863	0.99[AFR][1000 genomes]
rs250864	1.00[YRI][hapmap]
rs430035	0.80[AFR][1000 genomes]
rs458863	0.80[AFR][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	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv830211	chr5:14474675-14675776	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1032951	chr5:14529579-14667342	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 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	chr5:14648800-14655200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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