Variant report

Variant	rs530774254
Chromosome Location	chr7:112431765-112431766
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr7:112431448-112432164	HepG2	liver:	n/a	n/a
2	FOXA1	chr7:112431445-112431823	HepG2	liver:	n/a	n/a
3	POLR2A	chr7:112429633-112432379	HepG2	liver:	n/a	n/a
4	CEBPB	chr7:112431500-112431853	HepG2	liver:	n/a	chr7:112431663-112431676
5	MAFK	chr7:112431742-112431788	HepG2	liver:	n/a	n/a
6	ARID3A	chr7:112431765-112432278	HepG2	liver:	n/a	n/a
7	TBP	chr7:112431418-112432140	HepG2	liver:	n/a	n/a
8	FOXA2	chr7:112431563-112432180	HepG2	liver:	n/a	n/a
9	POLR2A	chr7:112431362-112432522	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	POLR2A	chr7:112431418-112431917	HepG2	liver:	n/a	n/a
13	HEY1	chr7:112431561-112432346	HepG2	liver:	n/a	n/a
14	MAFF	chr7:112431657-112431831	HepG2	liver:	n/a	n/a
15	HEY1	chr7:112431530-112431869	HepG2	liver:	n/a	n/a
16	POLR2A	chr7:112431510-112431925	HepG2	liver:	n/a	n/a
17	POLR2A	chr7:112429066-112431803	MCF10A-Er-Src	breast:	n/a	n/a
18	MXI1	chr7:112428848-112431866	SK-N-SH	brain:	n/a	n/a

No data

(count:4 , 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	chr7:112421571..112428519-chr7:112428661..112431818,11	MCF-7	breast:
3	chr7:112421681..112427261-chr7:112427948..112432124,6	MCF-7	breast:
4	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:14 , 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	chr7:112431000-112431800	Enhancers	Primary B cells from peripheral blood	blood
4	chr7:112431000-112432000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:112431000-112432000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:112431000-112432000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:112431000-112432400	Weak transcription	K562	blood
8	chr7:112431200-112432200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr7:112431200-112433600	Weak transcription	Primary B cells from cord blood	blood
10	chr7:112431400-112431800	ZNF genes & repeats	Esophagus	oesophagus
11	chr7:112431400-112431800	Flanking Active TSS	NHEK	skin
12	chr7:112431600-112431800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:112431600-112431800	Enhancers	H9 Cell Line	embryonic stem cell
14	chr7:112431600-112431800	Enhancers	Pancreas	Pancrea

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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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