Variant report

Variant	rs13427354
Chromosome Location	chr2:47100107-47100108
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47090235..47092918-chr2:47097599..47101021,3	MCF-7	breast:
2	chr2:47099451..47103362-chr2:47166819..47169825,3	MCF-7	breast:
3	chr2:47098032..47101005-chr2:47166387..47169374,2	K562	blood:
4	chr2:47099373..47102216-chr2:47142959..47145530,2	K562	blood:
5	chr2:47091177..47094224-chr2:47098051..47100562,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180398	Chromatin interaction
ENSG00000068724	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10170852	0.97[EUR][1000 genomes]
rs13420349	1.00[CEU][hapmap]
rs17035803	1.00[EUR][1000 genomes]
rs17035804	1.00[CEU][hapmap];0.88[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17035807	1.00[EUR][1000 genomes]
rs28469720	1.00[EUR][1000 genomes]
rs62134845	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47080800-47103600	Enhancers	Placenta	Placenta
2	chr2:47094000-47100600	Weak transcription	Fetal Intestine Small	intestine
3	chr2:47094000-47104200	Weak transcription	Gastric	stomach
4	chr2:47094200-47100200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:47094200-47100400	Weak transcription	Colonic Mucosa	Colon
6	chr2:47094200-47100400	Weak transcription	Small Intestine	intestine
7	chr2:47094400-47101000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:47094600-47100200	Weak transcription	Ovary	ovary
9	chr2:47095200-47100600	Weak transcription	Stomach Mucosa	stomach
10	chr2:47095200-47100800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:47095200-47104200	Weak transcription	Pancreas	Pancrea
12	chr2:47095600-47100400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:47095800-47100200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:47095800-47100200	Weak transcription	NHEK	skin
15	chr2:47096200-47100600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:47096200-47103200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:47096200-47105000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:47096600-47106400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:47096800-47100800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:47097000-47100200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:47097000-47100200	Weak transcription	HMEC	breast
22	chr2:47097200-47100400	Weak transcription	Fetal Heart	heart
23	chr2:47097200-47100800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr2:47097400-47116200	Enhancers	NHDF-Ad	bronchial
25	chr2:47097800-47100400	Weak transcription	Left Ventricle	heart
26	chr2:47097800-47101000	Weak transcription	Esophagus	oesophagus
27	chr2:47098200-47100200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:47098200-47100400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:47098200-47100400	Weak transcription	Lung	lung
30	chr2:47098200-47101800	Enhancers	K562	blood
31	chr2:47098800-47106600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:47099000-47100400	ZNF genes & repeats	A549	lung
33	chr2:47099000-47103000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:47099400-47100400	Weak transcription	Right Ventricle	heart
35	chr2:47099400-47100800	Enhancers	Stomach Smooth Muscle	stomach
36	chr2:47099400-47102400	Enhancers	Right Atrium	heart
37	chr2:47099600-47100400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr2:47099600-47106200	Enhancers	Osteobl	bone
39	chr2:47099600-47106800	Enhancers	NHLF	lung
40	chr2:47099800-47100400	Enhancers	Hela-S3	cervix
41	chr2:47099800-47101200	Enhancers	HSMMtube	muscle
42	chr2:47099800-47103000	Enhancers	Fetal Stomach	stomach
43	chr2:47099800-47103400	Enhancers	Fetal Lung	lung
44	chr2:47099800-47103600	Enhancers	Fetal Muscle Leg	muscle
45	chr2:47099800-47103800	Enhancers	Rectal Smooth Muscle	rectum
46	chr2:47099800-47106200	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr2:47100000-47101200	Enhancers	Brain Anterior Caudate	brain
48	chr2:47100000-47101400	Enhancers	Spleen	Spleen
49	chr2:47100000-47101800	Enhancers	HUVEC	blood vessel
50	chr2:47100000-47102200	Enhancers	Placenta Amnion	Placenta Amnion

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