Variant report

Variant	rs530157399
Chromosome Location	chr7:112432195-112432196
allele	-/TTGTTGC
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:112432020-112432324	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:112429633-112432379	HepG2	liver:	n/a	n/a
3	FOXA1	chr7:112431864-112432256	HepG2	liver:	n/a	n/a
4	ARID3A	chr7:112431765-112432278	HepG2	liver:	n/a	n/a
5	POLR2A	chr7:112432063-112432274	HepG2	liver:	n/a	n/a
6	HEY1	chr7:112432023-112432249	HepG2	liver:	n/a	n/a
7	SP2	chr7:112431887-112432216	HepG2	liver:	n/a	n/a
8	POLR2A	chr7:112431362-112432522	HepG2	liver:	n/a	n/a
9	SP1	chr7:112431869-112432227	HepG2	liver:	n/a	n/a
10	FOXA1	chr7:112431379-112432223	HepG2	liver:	n/a	n/a
11	FOXA1	chr7:112431527-112432212	HepG2	liver:	n/a	n/a
12	HEY1	chr7:112431561-112432346	HepG2	liver:	n/a	n/a
13	POLR2A	chr7:112432050-112432205	HepG2	liver:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:112431532..112434194-chr7:112463729..112466329,2	K562	blood:
2	chr7:112420290..112422919-chr7:112432152..112433977,2	MCF-7	breast:
3	chr7:112089239..112091876-chr7:112428390..112433191,6	K562	blood:

No data

No data

No data

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	esv2752144	chr7:112398372-112499924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv1794529	chr7:112400060-112588376	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv967494	chr7:112430613-112445931	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
5	nsv1031405	chr7:112431403-112476756	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	2 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	chr7:112430400-112433000	Active TSS	HepG2	liver
2	chr7:112430800-112440400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:112431000-112432400	Weak transcription	K562	blood
4	chr7:112431200-112432200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr7:112431200-112433600	Weak transcription	Primary B cells from cord blood	blood
6	chr7:112431800-112432800	Active TSS	NHEK	skin
7	chr7:112432000-112432200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:112432000-112432200	Enhancers	Esophagus	oesophagus
9	chr7:112432000-112432400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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