Variant report

Variant	rs10184783
Chromosome Location	chr2:48759845-48759846
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12616834	0.89[ASN][1000 genomes]
rs12620002	0.86[ASN][1000 genomes]
rs13410391	0.88[ASN][1000 genomes]
rs2177487	0.95[ASN][1000 genomes]
rs2177488	0.82[ASN][1000 genomes]
rs34461314	0.90[ASN][1000 genomes]
rs4296472	0.85[ASN][1000 genomes]
rs6733533	0.93[ASN][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	nsv1005954	chr2:48692696-48905723	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535682	chr2:48692696-48905723	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv833981	chr2:48705444-48878179	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1007491	chr2:48752185-48796441	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv535683	chr2:48752185-48796441	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48758000-48766000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:48758600-48762000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:48758600-48762200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:48758800-48760000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:48758800-48760000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:48758800-48760000	Enhancers	Right Ventricle	heart
7	chr2:48758800-48760200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:48758800-48760200	Enhancers	Placenta	Placenta
9	chr2:48758800-48761800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:48758800-48762000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:48758800-48769000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:48758800-48772400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr2:48759000-48760000	Weak transcription	NHDF-Ad	bronchial
14	chr2:48759000-48760200	Enhancers	Adipose Nuclei	Adipose
15	chr2:48759000-48760200	Enhancers	HUVEC	blood vessel
16	chr2:48759000-48760400	Enhancers	Left Ventricle	heart
17	chr2:48759000-48761600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:48759000-48761800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:48759000-48762000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:48759000-48765200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:48759000-48765400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:48759000-48772600	Weak transcription	Fetal Muscle Leg	muscle
23	chr2:48759000-48775200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:48759000-48787000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr2:48759000-48787400	Weak transcription	Psoas Muscle	Psoas
26	chr2:48759000-48827600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:48759200-48760000	Enhancers	Lung	lung
28	chr2:48759200-48760200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:48759200-48760200	Enhancers	Colon Smooth Muscle	Colon
30	chr2:48759200-48760400	Weak transcription	Fetal Intestine Small	intestine
31	chr2:48759200-48760400	Enhancers	Ovary	ovary
32	chr2:48759200-48766000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:48759200-48767000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:48759200-48793200	Weak transcription	Fetal Lung	lung
35	chr2:48759400-48760000	Enhancers	Right Atrium	heart
36	chr2:48759400-48760200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:48759400-48762600	Weak transcription	Fetal Intestine Large	intestine
38	chr2:48759400-48767000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:48759400-48775200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:48759600-48760000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:48759600-48760000	Enhancers	Fetal Kidney	kidney
42	chr2:48759600-48760000	Enhancers	Fetal Stomach	stomach
43	chr2:48759800-48760000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:48759800-48760000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:48759800-48760000	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr2:48759800-48760000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:48759800-48760000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr2:48759800-48760000	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr2:48759800-48760000	Enhancers	NH-A	brain
50	chr2:48759800-48760000	Enhancers	NHEK	skin

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