Variant report

Variant	rs142352705
Chromosome Location	chr2:113842280-113842281
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:113842160-113842310	AG09309	skin:	n/a	n/a
2	RAD21	chr2:113841806-113842339	MCF-7	breast:	n/a	n/a
3	CTCF	chr2:113841682-113842424	HCT-116	colon:	n/a	n/a
4	RAD21	chr2:113841739-113842373	HepG2	liver:	n/a	n/a
5	RAD21	chr2:113841778-113842309	MCF-7	breast:	n/a	n/a
6	RAD21	chr2:113841741-113842310	HCT-116	colon:	n/a	n/a
7	CTCF	chr2:113842260-113842410	GM12874	blood:	n/a	n/a
8	CTCF	chr2:113842140-113842290	WI-38	lung:	n/a	n/a
9	CTCF	chr2:113842160-113842310	HBMEC	blood vessel:	n/a	n/a
10	CTCF	chr2:113842140-113842290	GM12872	blood:	n/a	n/a
11	RAD21	chr2:113841709-113842328	HCT-116	colon:	n/a	n/a
12	RAD21	chr2:113841752-113842280	A549	lung:	n/a	n/a
13	CTCF	chr2:113842260-113842410	GM12870	blood:	n/a	n/a
14	CTCF	chr2:113842220-113842370	HCM	heart:	n/a	n/a
15	CTCF	chr2:113841250-113842446	A549	lung:	n/a	n/a
16	CTCF	chr2:113842240-113842390	GM12871	blood:	n/a	n/a
17	CTCF	chr2:113842260-113842410	AG10803	skin:	n/a	n/a
18	CTCF	chr2:113842220-113842370	GM12866	blood:	n/a	n/a
19	RAD21	chr2:113841904-113842288	ECC-1	luminal epithelium:	n/a	n/a
20	CTCF	chr2:113842240-113842390	HAc	cerebellar:	n/a	n/a
21	CTCF	chr2:113841732-113842286	MCF-7	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113842260..113843239-chr2:113894352..113895397,3	MCF-7	breast:
2	chr2:113834467..113836706-chr2:113841489..113843964,2	MCF-7	breast:
3	chr2:113842067..113843806-chr2:113845279..113847597,2	K562	blood:
4	chr2:113840473..113842575-chr2:113882514..113884830,2	MCF-7	breast:
5	chr2:113840523..113843293-chr2:113890844..113893174,3	MCF-7	breast:

No data

Variant related genes	Relation type
RNU6-1180P	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532471	chr2:113682449-113862981	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1007254	chr2:113726982-113887782	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv535894	chr2:113726982-113887782	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv2881	chr2:113800805-113846597	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv511806	chr2:113841061-113844598	Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113839400-113843600	Weak transcription	Esophagus	oesophagus
2	chr2:113840800-113842400	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr2:113841400-113847400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr2:113842000-113843800	Enhancers	NHEK	skin
5	chr2:113842200-113842400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:113842200-113842400	Enhancers	Lung	lung
7	chr2:113842200-113842600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:113842200-113842600	Enhancers	Stomach Mucosa	stomach
9	chr2:113842200-113843800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:113842200-113843800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:113842200-113844000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:113842200-113844200	Enhancers	HMEC	breast

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