Variant report

Variant	rs186517385
Chromosome Location	chr2:178966183-178966184
allele	C/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	MAX	chr2:178966105-178966317	NB4	blood:	n/a	chr2:178966223-178966233
2	MAX	chr2:178965995-178966415	K562	blood:	n/a	chr2:178966223-178966233
3	MYC	chr2:178966180-178966372	MCF10A-Er-Src	breast:	n/a	chr2:178966223-178966233
4	USF1	chr2:178966083-178966351	H1-hESC	embryonic stem cell:	n/a	chr2:178966222-178966233
5	USF1	chr2:178966060-178966383	ECC-1	luminal epithelium:	n/a	chr2:178966222-178966233
6	USF1	chr2:178966124-178966319	A549	lung:	n/a	chr2:178966222-178966233
7	JUND	chr2:178966057-178966381	K562	blood:	n/a	n/a
8	FOS	chr2:178966082-178966395	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr2:178966183-178966292	MCF10A-Er-Src	breast:	n/a	n/a
10	USF1	chr2:178966117-178966319	HepG2	liver:	n/a	chr2:178966222-178966233
11	USF2	chr2:178966077-178966380	Hela-S3	cervix:	n/a	chr2:178966222-178966233
12	USF1	chr2:178965965-178966412	K562	blood:	n/a	chr2:178966222-178966233
13	RCOR1	chr2:178966035-178966378	K562	blood:	n/a	n/a
14	USF1	chr2:178966049-178966421	ECC-1	luminal epithelium:	n/a	chr2:178966222-178966233
15	CBX3	chr2:178966009-178966407	K562	blood:	n/a	n/a
16	MAX	chr2:178966159-178966302	K562	blood:	n/a	chr2:178966223-178966233
17	FOS	chr2:178966105-178966393	MCF10A-Er-Src	breast:	n/a	n/a
18	JUN	chr2:178966096-178966360	K562	blood:	n/a	n/a
19	USF1	chr2:178966019-178966362	H1-hESC	embryonic stem cell:	n/a	chr2:178966222-178966233
20	MAX	chr2:178966064-178966348	K562	blood:	n/a	chr2:178966223-178966233
21	USF1	chr2:178966027-178966496	HCT-116	colon:	n/a	chr2:178966222-178966233
22	MAX	chr2:178966095-178966275	H1-hESC	embryonic stem cell:	n/a	chr2:178966223-178966233
23	USF1	chr2:178966052-178966443	A549	lung:	n/a	chr2:178966222-178966233
24	USF1	chr2:178965993-178966450	K562	blood:	n/a	chr2:178966222-178966233

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178965236..178967731-chr2:178970870..178972647,2	K562	blood:

Variant related genes	Relation type
ENSG00000227241	TF binding region

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	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv583739	chr2:178942302-178993562	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv518790	chr2:178963445-179000291	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178965800-178966400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:178966000-178966600	Enhancers	K562	blood
3	chr2:178966000-178966600	Enhancers	NHDF-Ad	bronchial

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