Variant report

Variant	rs563682488
Chromosome Location	chr5:68929647-68929648
allele	G/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	chr5:68928867-68929722	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr5:68928572-68930676	GM12892	blood:	n/a	n/a
3	POLR2A	chr5:68928580-68930732	GM12878	blood:	n/a	n/a
4	POU2F2	chr5:68929615-68929729	GM12878	blood:	n/a	n/a
5	GABPA	chr5:68929617-68929721	Hela-S3	cervix:	n/a	n/a
6	ZBTB33	chr5:68929512-68929780	GM12878	blood:	n/a	n/a
7	USF1	chr5:68929571-68929723	HepG2	liver:	n/a	n/a
8	PBX3	chr5:68929623-68929726	GM12878	blood:	n/a	n/a
9	POLR2A	chr5:68929543-68929786	GM12878	blood:	n/a	n/a
10	GABPA	chr5:68929546-68929739	Hela-S3	cervix:	n/a	n/a
11	POU2F2	chr5:68929523-68930102	GM12878	blood:	n/a	n/a
12	POLR2A	chr5:68929546-68929800	H1-hESC	embryonic stem cell:	n/a	n/a
13	PAX5	chr5:68929552-68929761	GM12878	blood:	n/a	n/a
14	FOSL2	chr5:68929549-68929799	HepG2	liver:	n/a	n/a
15	POLR2A	chr5:68928560-68930691	GM12892	blood:	n/a	n/a
16	POLR2A	chr5:68929566-68929783	H1-hESC	embryonic stem cell:	n/a	n/a
17	SPI1	chr5:68929545-68929737	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000250138	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034024	chr5:68760271-69118123	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv1808992	chr5:68827700-69181892	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv32846	chr5:68829015-69705591	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv11562	chr5:68830039-69095305	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	esv1806970	chr5:68830621-69172564	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	esv3496805	chr5:68831346-68930844	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	esv3496806	chr5:68831346-68930844	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv598447	chr5:68835256-68945227	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv598448	chr5:68835256-69269712	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	esv1804538	chr5:68843820-69174160	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv471498	chr5:68851245-69320933	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
12	nsv881772	chr5:68857837-69061001	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
13	esv1804910	chr5:68867282-69118123	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
14	esv1813695	chr5:68867282-69118123	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
15	esv3584530	chr5:68867294-69118135	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
16	esv1794597	chr5:68914802-69250604	Weak transcription Enhancers Strong transcription	TF binding region lncRNA	5 gene(s)	inside rSNPs	diseases
17	esv1791878	chr5:68914802-69310204	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	6 gene(s)	inside rSNPs	diseases
18	esv1831103	chr5:68915555-68953901	Weak transcription Enhancers Strong transcription	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
19	esv1810965	chr5:68919002-68995924	Weak transcription Enhancers Strong transcription	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
20	esv3363964	chr5:68924296-68954994	Weak transcription Enhancers Strong transcription	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
21	esv17525	chr5:68925014-69199523	Weak transcription Enhancers Strong transcription	TF binding region lncRNA	5 gene(s)	inside rSNPs	diseases
22	nsv821218	chr5:68925014-69199523	Weak transcription Enhancers Strong transcription	TF binding region lncRNA	5 gene(s)	inside rSNPs	diseases
23	esv3353093	chr5:68925196-68944094	Weak transcription Enhancers Strong transcription	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
24	esv18930	chr5:68925206-68954150	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
25	esv3431113	chr5:68925296-68934994	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
26	esv3421296	chr5:68926496-68931794	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
27	esv3395773	chr5:68927196-68935094	Enhancers Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
28	esv11389	chr5:68927609-68932624	Weak transcription Enhancers Strong transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
29	nsv964867	chr5:68928335-68932927	Weak transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
30	nsv964868	chr5:68928335-68936143	Weak transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
31	esv3428203	chr5:68928396-68932094	Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
32	esv3444726	chr5:68928996-68932094	Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
33	esv3437591	chr5:68929196-68933794	Weak transcription	TF binding region lncRNA	1 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	chr5:68928200-68929800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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