Variant report

Variant	rs13422107
Chromosome Location	chr2:47093894-47093895
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47085558..47087173-chr2:47093819..47096173,2	K562	blood:
2	chr2:47091177..47094224-chr2:47098051..47100562,3	MCF-7	breast:
3	chr2:47088613..47092145-chr2:47092514..47095025,5	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11125098	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13415138	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2278712	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34392693	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58086358	0.91[EUR][1000 genomes]
rs61507430	0.85[EUR][1000 genomes]
rs875343	0.82[AMR][1000 genomes]
rs935380	0.82[AMR][1000 genomes]
rs9789584	0.84[EUR][1000 genomes]

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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv979000	chr2:47088519-47093944	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47080800-47103600	Enhancers	Placenta	Placenta
2	chr2:47087800-47097400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:47089200-47096800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:47090000-47096200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:47091400-47094000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:47091400-47096600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:47092000-47096400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:47092600-47094000	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr2:47092600-47094400	Enhancers	Duodenum Mucosa	Duodenum
10	chr2:47092800-47094000	Enhancers	Fetal Intestine Small	intestine
11	chr2:47092800-47094000	Enhancers	Gastric	stomach
12	chr2:47092800-47094000	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr2:47092800-47094200	Enhancers	Fetal Muscle Trunk	muscle
14	chr2:47092800-47094200	Enhancers	Small Intestine	intestine
15	chr2:47092800-47094600	Enhancers	Esophagus	oesophagus
16	chr2:47092800-47095800	Enhancers	NHEK	skin
17	chr2:47093000-47094000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:47093000-47094000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:47093000-47095200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:47093000-47095200	Enhancers	Pancreas	Pancrea
21	chr2:47093000-47097800	Enhancers	Left Ventricle	heart
22	chr2:47093200-47094000	Weak transcription	Fetal Stomach	stomach
23	chr2:47093200-47094200	Enhancers	Colonic Mucosa	Colon
24	chr2:47093200-47094200	Enhancers	K562	blood
25	chr2:47093200-47094600	Enhancers	Ovary	ovary
26	chr2:47093400-47094200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr2:47093600-47094000	Flanking Active TSS	Stomach Mucosa	stomach
28	chr2:47093600-47094200	Enhancers	Aorta	Aorta
29	chr2:47093600-47094200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr2:47093600-47094200	Enhancers	Fetal Intestine Large	intestine
31	chr2:47093600-47094400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:47093600-47094400	Enhancers	Right Atrium	heart
33	chr2:47093600-47095200	Enhancers	HUVEC	blood vessel
34	chr2:47093600-47096800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:47093600-47097000	Enhancers	Spleen	Spleen
36	chr2:47093800-47094000	Enhancers	Fetal Muscle Leg	muscle
37	chr2:47093800-47094200	Enhancers	Liver	Liver
38	chr2:47093800-47094200	Enhancers	Stomach Smooth Muscle	stomach
39	chr2:47093800-47094200	Flanking Active TSS	HepG2	liver
40	chr2:47093800-47094400	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr2:47093800-47094400	Enhancers	Adipose Nuclei	Adipose
42	chr2:47093800-47095600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:47093800-47098000	Enhancers	Right Ventricle	heart
44	chr2:47093800-47098200	Enhancers	Lung	lung

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