Variant report

Variant	rs3789722
Chromosome Location	chr2:113343488-113343489
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:113340958-113343554	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:113342174..113343883-chr2:113403461..113405044,2	K562	blood:
2	chr2:113298954..113302477-chr2:113339455..113343767,5	MCF-7	breast:
3	chr2:113342510..113344437-chr2:113651250..113653348,2	MCF-7	breast:
4	chr2:113296892..113302637-chr2:113340004..113344909,8	K562	blood:
5	chr2:113340008..113343992-chr2:113483304..113487579,6	K562	blood:
6	chr2:113031869..113034952-chr2:113341167..113343629,3	MCF-7	breast:
7	chr2:113340774..113345524-chr2:113480391..113485957,9	MCF-7	breast:
8	chr2:113339547..113343883-chr2:113402286..113405078,6	K562	blood:
9	chr2:113340479..113344233-chr2:113401874..113407323,6	MCF-7	breast:
10	chr2:113340437..113343949-chr2:113401268..113406617,9	MCF-7	breast:
11	chr2:113235824..113243298-chr2:113338675..113344022,16	MCF-7	breast:
12	chr2:113343268..113345450-chr2:113354947..113357847,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000243389	TF binding region
ENSG00000228251	TF binding region
ENSG00000144136	Chromatin interaction
ENSG00000114999	Chromatin interaction
ENSG00000144130	Chromatin interaction
ENSG00000188177	Chromatin interaction
ENSG00000125630	Chromatin interaction
ENSG00000237753	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11687159	0.99[ASN][1000 genomes]
rs12618629	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35832933	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3748024	0.80[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs719667	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs719668	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874877	chr2:113287964-113382054	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv458997	chr2:113313794-113431092	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv582708	chr2:113313794-113431092	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113342800-113343600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:113342800-113343600	Enhancers	Esophagus	oesophagus
3	chr2:113342800-113343600	Enhancers	Lung	lung
4	chr2:113342800-113343600	Enhancers	Spleen	Spleen
5	chr2:113342800-113343600	Flanking Active TSS	GM12878-XiMat	blood
6	chr2:113342800-113343800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:113342800-113343800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:113342800-113343800	Enhancers	Placenta	Placenta
9	chr2:113342800-113343800	Enhancers	Gastric	stomach
10	chr2:113342800-113343800	Enhancers	Placenta Amnion	Placenta Amnion
11	chr2:113342800-113344000	Weak transcription	Ovary	ovary
12	chr2:113342800-113346000	Weak transcription	Aorta	Aorta
13	chr2:113343000-113343600	Enhancers	Primary B cells from peripheral blood	blood
14	chr2:113343000-113343600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:113343000-113343600	Enhancers	Brain Germinal Matrix	brain
16	chr2:113343000-113343600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr2:113343000-113343600	Enhancers	Fetal Brain Male	brain
18	chr2:113343000-113343600	Genic enhancers	Fetal Stomach	stomach
19	chr2:113343000-113343600	Enhancers	Right Ventricle	heart
20	chr2:113343000-113343600	Enhancers	Small Intestine	intestine
21	chr2:113343000-113343800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:113343000-113343800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr2:113343000-113343800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:113343000-113343800	Genic enhancers	Fetal Intestine Small	intestine
25	chr2:113343000-113344000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr2:113343000-113344200	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr2:113343000-113345000	Genic enhancers	Primary T cells fromperipheralblood	blood
28	chr2:113343000-113345800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr2:113343000-113348600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:113343000-113348800	Genic enhancers	Fetal Muscle Leg	muscle
31	chr2:113343000-113349400	Enhancers	Pancreas	Pancrea
32	chr2:113343000-113350000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr2:113343200-113343600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr2:113343200-113343600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:113343200-113343600	Enhancers	Brain Angular Gyrus	brain
36	chr2:113343200-113343600	Enhancers	Brain Substantia Nigra	brain
37	chr2:113343200-113343600	Enhancers	Duodenum Mucosa	Duodenum
38	chr2:113343200-113343600	Weak transcription	Fetal Intestine Large	intestine
39	chr2:113343200-113343600	Flanking Active TSS	HepG2	liver
40	chr2:113343200-113343600	Enhancers	K562	blood
41	chr2:113343200-113343800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:113343200-113343800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr2:113343200-113343800	Weak transcription	Brain Anterior Caudate	brain
44	chr2:113343200-113343800	Enhancers	Fetal Muscle Trunk	muscle
45	chr2:113343200-113343800	Weak transcription	NHEK	skin
46	chr2:113343200-113343800	Weak transcription	NHLF	lung
47	chr2:113343200-113344000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr2:113343200-113344000	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr2:113343200-113344000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr2:113343200-113344000	Enhancers	Primary T helper naive cells from peripheral blood	blood

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