Variant report

Variant	rs113504070
Chromosome Location	chr2:233739942-233739943
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:233739914-233740702	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:233735463-233740850	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:233737594-233750472	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:233733606..233736578-chr2:233738541..233742093,3	K562	blood:
2	chr2:233739500..233741658-chr2:234118418..234121019,2	MCF-7	breast:
3	chr2:233738643..233740986-chr2:234158854..234161597,2	MCF-7	breast:
4	chr2:233739591..233745527-chr2:233747956..233752237,8	MCF-7	breast:
5	chr2:233739669..233741368-chr2:233754744..233756796,2	MCF-7	breast:
6	chr2:233739634..233741752-chr2:234762062..234763820,2	MCF-7	breast:
7	chr2:233733606..233736774-chr2:233738541..233741120,3	K562	blood:

No data

Variant related genes	Relation type
C2orf82	TF binding region
ENSG00000182600	Chromatin interaction
ENSG00000123485	Chromatin interaction
ENSG00000066248	Chromatin interaction
ENSG00000085978	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1009825	chr2:233709566-233763470	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv984452	chr2:233725452-233762965	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv999116	chr2:233733352-233759864	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1007029	chr2:233733352-233760519	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv536179	chr2:233735380-233757170	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv3395649	chr2:233739733-233742581	Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233723000-233740400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:233726000-233740400	Weak transcription	HMEC	breast
3	chr2:233726400-233740200	Weak transcription	Primary B cells from cord blood	blood
4	chr2:233726400-233740400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:233726400-233740800	Weak transcription	HSMM	muscle
6	chr2:233726600-233740000	Weak transcription	Pancreas	Pancrea
7	chr2:233726600-233740200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:233726600-233740400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:233726600-233740400	Weak transcription	Lung	lung
10	chr2:233726600-233740400	Weak transcription	NHEK	skin
11	chr2:233726800-233755600	Weak transcription	HSMMtube	muscle
12	chr2:233734400-233740400	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr2:233734600-233740200	Enhancers	Brain Cingulate Gyrus	brain
14	chr2:233734600-233740200	Enhancers	Brain Substantia Nigra	brain
15	chr2:233734800-233740200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:233735000-233740000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:233735000-233740000	Genic enhancers	Fetal Intestine Small	intestine
18	chr2:233736400-233740200	Enhancers	Fetal Intestine Large	intestine
19	chr2:233736600-233740200	Enhancers	Brain Hippocampus Middle	brain
20	chr2:233736800-233740200	Weak transcription	Fetal Brain Male	brain
21	chr2:233738000-233740000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:233738000-233740000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:233738000-233740200	Enhancers	Colonic Mucosa	Colon
24	chr2:233738200-233740400	Enhancers	Liver	Liver
25	chr2:233738600-233740000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:233738600-233740200	Enhancers	A549	lung
27	chr2:233738600-233740600	Enhancers	Spleen	Spleen
28	chr2:233738800-233740200	Enhancers	Hela-S3	cervix
29	chr2:233738800-233741000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:233739000-233740000	Weak transcription	Brain Anterior Caudate	brain
31	chr2:233739200-233740200	Weak transcription	Brain Angular Gyrus	brain
32	chr2:233739400-233740000	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr2:233739400-233740200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:233739400-233740400	Weak transcription	Esophagus	oesophagus
35	chr2:233739400-233740600	Enhancers	Gastric	stomach
36	chr2:233739400-233740600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
37	chr2:233739400-233740600	Bivalent Enhancer	Stomach Mucosa	stomach
38	chr2:233739600-233740000	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr2:233739600-233740000	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr2:233739600-233740000	Enhancers	HepG2	liver
41	chr2:233739800-233740600	Bivalent Enhancer	Primary B cells from peripheral blood	blood

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