Variant report

Variant	rs4132949
Chromosome Location	chr13:111042840-111042841
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1536622	0.81[JPT][hapmap]
rs28592869	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs34204050	0.80[AMR][1000 genomes]
rs4555010	0.81[JPT][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4773180	0.83[JPT][hapmap]
rs61963204	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9555696	0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9559785	0.89[CHB][hapmap];0.91[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9559786	0.89[CHB][hapmap];0.91[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9559789	0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9559790	0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs9559791	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9559792	0.81[JPT][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9559794	0.90[JPT][hapmap]

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	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv2751128	chr13:111040798-111132490	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111038400-111044200	Strong transcription	Cortex derived primary cultured neurospheres	brain
2	chr13:111039200-111045600	Enhancers	Placenta	Placenta
3	chr13:111040200-111043000	Enhancers	Right Ventricle	heart
4	chr13:111040200-111043200	Enhancers	Left Ventricle	heart
5	chr13:111040600-111045200	Weak transcription	Spleen	Spleen
6	chr13:111040600-111047600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr13:111040800-111044000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr13:111040800-111048000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr13:111040800-111049600	Enhancers	NHDF-Ad	bronchial
10	chr13:111040800-111050800	Weak transcription	Psoas Muscle	Psoas
11	chr13:111040800-111058000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr13:111041000-111043000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:111041000-111044600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr13:111041000-111044800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr13:111041200-111044000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr13:111041200-111044200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr13:111041200-111045000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr13:111041200-111045400	Genic enhancers	Osteobl	bone
19	chr13:111041200-111048000	Enhancers	Aorta	Aorta
20	chr13:111041400-111043000	Strong transcription	Adipose Nuclei	Adipose
21	chr13:111041400-111043000	ZNF genes & repeats	Fetal Intestine Small	intestine
22	chr13:111041400-111043000	Genic enhancers	Fetal Muscle Trunk	muscle
23	chr13:111041400-111044600	Enhancers	Fetal Heart	heart
24	chr13:111041400-111045000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr13:111041400-111045000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr13:111041400-111045000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr13:111041400-111048600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr13:111041400-111048600	Weak transcription	Esophagus	oesophagus
29	chr13:111041400-111058000	Weak transcription	Fetal Intestine Large	intestine
30	chr13:111041600-111043200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
31	chr13:111041600-111043600	Genic enhancers	Fetal Muscle Leg	muscle
32	chr13:111041600-111043600	Weak transcription	Right Atrium	heart
33	chr13:111041600-111044000	Weak transcription	Colon Smooth Muscle	Colon
34	chr13:111041600-111044200	Weak transcription	Ovary	ovary
35	chr13:111041600-111044800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr13:111041600-111045000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr13:111041600-111046200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr13:111041600-111047400	Weak transcription	Colonic Mucosa	Colon
39	chr13:111041800-111043000	Strong transcription	NHEK	skin
40	chr13:111041800-111043200	Genic enhancers	Fetal Stomach	stomach
41	chr13:111041800-111044600	Weak transcription	Fetal Kidney	kidney
42	chr13:111041800-111045400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr13:111041800-111045600	Enhancers	Rectal Smooth Muscle	rectum
44	chr13:111041800-111048600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr13:111042000-111044000	Enhancers	Stomach Smooth Muscle	stomach
46	chr13:111042000-111044600	Weak transcription	Fetal Lung	lung
47	chr13:111042200-111044000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr13:111042200-111045400	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr13:111042200-111046600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr13:111042200-111048800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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