Variant report

Variant	rs554190247
Chromosome Location	chr2:34902449-34902450
allele	A/G
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	PAX5	chr2:34902374-34902644	GM12878	blood:	n/a	n/a
2	PAX5	chr2:34902316-34902696	GM12878	blood:	n/a	n/a
3	MXI1	chr2:34902255-34902883	GM12878	blood:	n/a	n/a
4	SP1	chr2:34902181-34902633	GM12878	blood:	n/a	n/a
5	SPI1	chr2:34902137-34902754	GM12878	blood:	n/a	n/a
6	EBF1	chr2:34902218-34902596	GM12878	blood:	n/a	n/a
7	PAX5	chr2:34902217-34902719	GM12878	blood:	n/a	n/a
8	NR3C1	chr2:34902418-34902603	ECC-1	luminal epithelium:	n/a	n/a
9	RELA	chr2:34902230-34902607	GM12878	blood:	n/a	n/a
10	BHLHE40	chr2:34902255-34902723	GM12878	blood:	n/a	n/a
11	PAX5	chr2:34902307-34902612	GM12878	blood:	n/a	n/a
12	BATF	chr2:34902415-34902679	GM12878	blood:	n/a	n/a
13	EP300	chr2:34902200-34902707	GM12878	blood:	n/a	n/a
14	ZNF384	chr2:34902020-34902622	GM12878	blood:	n/a	n/a
15	CHD2	chr2:34902278-34902563	GM12878	blood:	n/a	n/a
16	STAT3	chr2:34902202-34902633	GM12878	blood:	n/a	n/a
17	POLR2A	chr2:34902401-34902630	GM12878	blood:	n/a	n/a
18	CUX1	chr2:34902439-34902593	GM12878	blood:	n/a	n/a
19	EP300	chr2:34902231-34902712	GM12878	blood:	n/a	n/a
20	EP300	chr2:34902166-34902728	GM12878	blood:	n/a	n/a
21	ZNF143	chr2:34902393-34902613	GM12878	blood:	n/a	n/a
22	TBP	chr2:34901819-34903055	GM12878	blood:	n/a	n/a
23	WRNIP1	chr2:34902338-34902758	GM12878	blood:	n/a	n/a
24	POU2F2	chr2:34902341-34902721	GM12878	blood:	n/a	n/a
25	SPI1	chr2:34902223-34902482	GM12891	blood:	n/a	n/a
26	PBX3	chr2:34902420-34902614	GM12878	blood:	n/a	n/a
27	SPI1	chr2:34902128-34902491	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000228262	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999091	chr2:34154486-34993188	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv535629	chr2:34154486-34993188	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv873804	chr2:34156867-35047107	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv873810	chr2:34456200-35047107	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1002396	chr2:34581285-34993188	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv535633	chr2:34581285-34993188	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv873821	chr2:34738616-35416075	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1003361	chr2:34746445-35202302	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1011904	chr2:34784330-34928973	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1010374	chr2:34791069-34928600	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv581373	chr2:34811114-34947118	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv873823	chr2:34814518-34931915	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv873824	chr2:34814518-34933685	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv1000535	chr2:34831613-34986940	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv535634	chr2:34831613-34986940	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	esv2762249	chr2:34891028-34932839	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
17	nsv873825	chr2:34892832-35115848	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
18	nsv1003322	chr2:34898412-35216795	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
19	nsv581374	chr2:34902177-34942918	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34902400-34902600	Flanking Active TSS	Liver	Liver

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