Variant report

Variant	rs13405033
Chromosome Location	chr2:113994595-113994596
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:113994368-113994843	K562	blood:	n/a	n/a
2	NR3C1	chr2:113994210-113994667	A549	lung:	n/a	n/a
3	NR3C1	chr2:113994237-113994610	A549	lung:	n/a	n/a
4	POLR2A	chr2:113993953-113995641	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr2:113994161-113994725	K562	blood:	n/a	n/a
6	POLR2A	chr2:113992678-113994712	GM12878	blood:	n/a	n/a
7	POLR2A	chr2:113993933-113995568	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr2:113994091-113994693	HCT-116	colon:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:113968914..113973967-chr2:113991743..113995400,6	MCF-7	breast:
2	chr2:113955248..113957880-chr2:113994557..113996875,2	MCF-7	breast:
3	chr2:113973621..113980487-chr2:113991287..113996231,8	K562	blood:

No data

Variant related genes	Relation type
PAX8	TF binding region
PAX8-AS1	TF binding region
ENSG00000258395	TF binding region
ENSG00000125637	Chromatin interaction
ENSG00000189223	Chromatin interaction
ENSG00000125618	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13431315	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35836064	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45449699	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66775912	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67081417	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs67776659	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67802835	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72831810	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72831838	0.81[EUR][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	nsv459008	chr2:113972945-114010791	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv582713	chr2:113972945-114010791	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv508162	chr2:113983043-114099966	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113984000-113998000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:113987000-113997000	Weak transcription	Hela-S3	cervix
3	chr2:113991800-113997000	Weak transcription	Spleen	Spleen
4	chr2:113992000-113994800	Weak transcription	HepG2	liver
5	chr2:113992000-113997000	Weak transcription	Esophagus	oesophagus
6	chr2:113992000-113997000	Weak transcription	Fetal Heart	heart
7	chr2:113992000-113997000	Weak transcription	Right Atrium	heart
8	chr2:113992000-113997400	Weak transcription	Left Ventricle	heart
9	chr2:113992000-113997400	Weak transcription	Right Ventricle	heart
10	chr2:113992600-113994600	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr2:113992600-113994600	Active TSS	Brain Hippocampus Middle	brain
12	chr2:113992600-113994600	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr2:113992600-113994600	Active TSS	Fetal Intestine Large	intestine
14	chr2:113992600-113994800	Active TSS	Duodenum Mucosa	Duodenum
15	chr2:113992600-113995000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:113992600-113995000	Active TSS	HSMM	muscle
17	chr2:113992600-113995200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:113992600-113995200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:113992600-113995200	Active TSS	Osteobl	bone
20	chr2:113992600-113995400	Active TSS	Muscle Satellite Cultured Cells	--
21	chr2:113992800-113994600	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr2:113992800-113994600	Active TSS	Rectal Smooth Muscle	rectum
23	chr2:113992800-113995400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:113992800-113995600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:113993000-113994600	Active TSS	Primary monocytes fromperipheralblood	blood
26	chr2:113993000-113994600	Weak transcription	NHLF	lung
27	chr2:113993000-113995400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:113993200-113994600	Weak transcription	A549	lung
29	chr2:113993200-113995200	Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr2:113993400-113996800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:113993400-113997000	Weak transcription	Liver	Liver
32	chr2:113993400-113997000	Weak transcription	Brain Anterior Caudate	brain
33	chr2:113993400-113997000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr2:113993400-113997000	Weak transcription	Brain Substantia Nigra	brain
35	chr2:113993400-113997200	Weak transcription	Stomach Mucosa	stomach
36	chr2:113993400-113997400	Weak transcription	HUVEC	blood vessel
37	chr2:113993400-114000000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:113993400-114006600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr2:113993600-113997000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr2:113993600-113997000	Weak transcription	Fetal Intestine Small	intestine
41	chr2:113993600-113997400	Weak transcription	Brain Angular Gyrus	brain
42	chr2:113993800-113994600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:113993800-113994800	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr2:113993800-113995400	Enhancers	Primary T cells fromperipheralblood	blood
45	chr2:113993800-113997000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr2:113994000-113994600	Flanking Active TSS	Lung	lung
47	chr2:113994000-113994800	Enhancers	Fetal Brain Female	brain
48	chr2:113994000-113995200	Enhancers	Primary hematopoietic stem cells	blood
49	chr2:113994200-113994600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:113994200-113994600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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