Variant report

Variant	rs190844316
Chromosome Location	chr2:53702247-53702248
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	RAD21	chr2:53702129-53702919	Hela-S3	cervix:	n/a	chr2:53702376-53702383
2	SIN3AK20	chr2:53702196-53703060	HCT-116	colon:	n/a	n/a
3	RCOR1	chr2:53702158-53703301	Hela-S3	cervix:	n/a	n/a
4	STAT1	chr2:53702238-53703160	Hela-S3	cervix:	n/a	chr2:53702774-53702786 chr2:53702607-53702616 chr2:53702608-53702617
5	FOSL1	chr2:53702228-53703059	HCT-116	colon:	n/a	chr2:53702608-53702616 chr2:53702609-53702616 chr2:53702737-53702745 chr2:53702608-53702617
6	PBX3	chr2:53702100-53702917	SK-N-SH	brain:	n/a	n/a
7	MAX	chr2:53702109-53703268	Hela-S3	cervix:	n/a	chr2:53702608-53702617 chr2:53702607-53702616 chr2:53702341-53702350
8	EP300	chr2:53702162-53703347	Hela-S3	cervix:	n/a	chr2:53702608-53702617 chr2:53702607-53702616 chr2:53702775-53702789
9	CHD2	chr2:53702154-53703199	Hela-S3	cervix:	n/a	n/a
10	STAT3	chr2:53702139-53703244	Hela-S3	cervix:	n/a	chr2:53702774-53702786 chr2:53702607-53702616 chr2:53702608-53702617
11	EP300	chr2:53702066-53702938	SK-N-SH_RA	brain:	n/a	chr2:53702608-53702617 chr2:53702607-53702616 chr2:53702775-53702789
12	POLR2A	chr2:53702092-53702371	H1-neurons	neurons:	n/a	n/a
13	JUND	chr2:53702141-53703167	HCT-116	colon:	n/a	chr2:53702608-53702616 chr2:53702609-53702616 chr2:53702737-53702745 chr2:53702608-53702617
14	CEBPB	chr2:53702219-53703198	HCT-116	colon:	n/a	chr2:53703002-53703019
15	RFX5	chr2:53702114-53703158	Hela-S3	cervix:	n/a	n/a
16	MAX	chr2:53702106-53703102	Hela-S3	cervix:	n/a	chr2:53702608-53702617 chr2:53702607-53702616 chr2:53702341-53702350
17	JUN	chr2:53702115-53703281	Hela-S3	cervix:	n/a	chr2:53702608-53702616 chr2:53702609-53702616 chr2:53702737-53702745 chr2:53702608-53702617
18	TFAP2C	chr2:53702219-53702950	Hela-S3	cervix:	n/a	n/a
19	CBX3	chr2:53702123-53703068	HCT-116	colon:	n/a	n/a
20	PBX3	chr2:53702109-53702919	SK-N-SH	brain:	n/a	n/a
21	SP1	chr2:53701976-53703101	HCT-116	colon:	n/a	n/a
22	JUND	chr2:53702072-53703331	Hela-S3	cervix:	n/a	chr2:53702608-53702616 chr2:53702609-53702616 chr2:53702737-53702745 chr2:53702608-53702617
23	FOSL1	chr2:53701991-53703162	HCT-116	colon:	n/a	chr2:53702608-53702616 chr2:53702609-53702616 chr2:53702737-53702745 chr2:53702608-53702617
24	CBX3	chr2:53701938-53703325	HCT-116	colon:	n/a	n/a
25	USF2	chr2:53702142-53703172	Hela-S3	cervix:	n/a	n/a
26	JUND	chr2:53702170-53703064	HCT-116	colon:	n/a	chr2:53702608-53702616 chr2:53702609-53702616 chr2:53702737-53702745 chr2:53702608-53702617
27	MAX	chr2:53702235-53703052	HCT-116	colon:	n/a	chr2:53702608-53702617 chr2:53702607-53702616 chr2:53702341-53702350
28	SP1	chr2:53702226-53703300	HCT-116	colon:	n/a	n/a
29	SMC3	chr2:53702157-53703209	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr2:53702175-53703286	Hela-S3	cervix:	n/a	chr2:53703002-53703019
31	EP300	chr2:53702015-53702851	SK-N-SH_RA	brain:	n/a	chr2:53702608-53702617 chr2:53702607-53702616 chr2:53702775-53702789

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:53691365..53693137-chr2:53701304..53703137,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251942	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002145	chr2:53387912-53832213	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv535718	chr2:53387912-53832213	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv997401	chr2:53515629-53863347	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3383918	chr2:53585059-53710179	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1008648	chr2:53683543-53708531	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv457862	chr2:53687730-53706903	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv582008	chr2:53687730-53706903	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv999571	chr2:53690538-53775723	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv1012754	chr2:53690538-53785037	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv457873	chr2:53701324-53785037	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv582009	chr2:53701324-53785037	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53698000-53706400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:53700000-53703000	Enhancers	Hela-S3	cervix
3	chr2:53700400-53704200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:53700800-53702400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:53701200-53704000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:53702000-53703200	Enhancers	NHDF-Ad	bronchial
7	chr2:53702200-53702600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:53702200-53703200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:53702200-53703200	Enhancers	A549	lung
10	chr2:53702200-53703200	Enhancers	NHLF	lung
11	chr2:53702200-53703400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:53702200-53703600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:53702200-53703600	Enhancers	NH-A	brain
14	chr2:53702200-53704000	Enhancers	HMEC	breast
15	chr2:53702200-53704200	Enhancers	NHEK	skin

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