Variant report

Variant	rs530359552
Chromosome Location	chr4:120964956-120964957
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	SETDB1	chr4:120964713-120965317	U2OS	brain:	n/a	n/a
2	IRF1	chr4:120964821-120965410	K562	blood:	n/a	chr4:120965180-120965201
3	ARID3A	chr4:120964875-120964999	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:120956553..120960562-chr4:120961898..120965735,4	K562	blood:
2	chr4:120964367..120966016-chr4:120972622..120975603,2	K562	blood:

Variant related genes	Relation type
ENSG00000253825	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv1007641	chr4:120884220-121555889	Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv537234	chr4:120884220-121555889	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv879850	chr4:120898509-120969089	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv879851	chr4:120942372-120984077	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3466122	chr4:120962004-120967102	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3511179	chr4:120962304-120966302	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3511178	chr4:120962954-120966152	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3466120	chr4:120963415-120965200	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3511180	chr4:120963427-120965209	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3511181	chr4:120963428-120965205	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3466121	chr4:120963442-120965184	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3466118	chr4:120963449-120965153	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv3511182	chr4:120963458-120965178	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv3511183	chr4:120963458-120965205	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv11266	chr4:120963461-120965106	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv3466117	chr4:120963488-120965189	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv3466116	chr4:120963550-120965124	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv3466123	chr4:120963564-120965124	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv1817519	chr4:120963960-120968070	Weak transcription	TF binding region Chromatin interactive region	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	chr4:120962200-120987200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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