Variant report

Variant	rs11616639
Chromosome Location	chr13:48699472-48699473
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1410117	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1571256	0.87[ASN][1000 genomes]
rs1927213	0.88[ASN][1000 genomes]
rs2094192	0.86[ASN][1000 genomes]
rs2104480	0.87[ASN][1000 genomes]
rs2148246	0.85[ASN][1000 genomes]
rs2148938	0.87[ASN][1000 genomes]
rs2406709	0.85[ASN][1000 genomes]
rs2406797	0.88[ASN][1000 genomes]
rs4294712	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4941623	0.86[ASN][1000 genomes]
rs4942748	0.88[ASN][1000 genomes]
rs56399021	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61973324	0.89[AMR][1000 genomes]
rs7324484	0.86[ASN][1000 genomes]
rs7326363	0.89[ASN][1000 genomes]
rs7336214	0.88[ASN][1000 genomes]
rs8001243	0.89[ASN][1000 genomes]
rs9526442	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9526443	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9526445	0.88[ASN][1000 genomes]
rs9526447	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9526449	0.90[ASN][1000 genomes]
rs9526451	0.96[ASN][1000 genomes]
rs9534931	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9534933	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9534937	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9534939	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9534943	0.86[ASN][1000 genomes]
rs9534944	0.86[ASN][1000 genomes]
rs9534945	0.86[ASN][1000 genomes]
rs9534946	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9534947	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9534948	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9534950	0.87[ASN][1000 genomes]
rs9534951	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9534952	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9534957	0.89[ASN][1000 genomes]
rs9534961	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9534965	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9562802	0.86[ASN][1000 genomes]
rs9567987	0.85[ASN][1000 genomes]
rs9567991	0.85[ASN][1000 genomes]
rs9567994	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48686600-48700000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:48695800-48699600	Weak transcription	HUVEC	blood vessel
3	chr13:48695800-48700000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr13:48695800-48701200	Weak transcription	Fetal Intestine Small	intestine
5	chr13:48696000-48699600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:48696200-48699800	Weak transcription	Fetal Kidney	kidney
7	chr13:48696200-48701200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr13:48696200-48701200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr13:48696400-48699800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr13:48696400-48699800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:48697400-48701400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr13:48697800-48699800	Enhancers	HepG2	liver
13	chr13:48697800-48702200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr13:48698000-48700000	Enhancers	Lung	lung
15	chr13:48698000-48700600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr13:48698000-48700800	Enhancers	Left Ventricle	heart
17	chr13:48698200-48699600	Weak transcription	Aorta	Aorta
18	chr13:48698400-48699800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr13:48698400-48700000	Enhancers	Adipose Nuclei	Adipose
20	chr13:48698400-48700000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr13:48698600-48699600	Weak transcription	Fetal Stomach	stomach
22	chr13:48698600-48699600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr13:48698600-48699600	Weak transcription	HSMMtube	muscle
24	chr13:48698600-48699800	Weak transcription	Fetal Muscle Leg	muscle
25	chr13:48698600-48700000	Weak transcription	HMEC	breast
26	chr13:48698600-48701200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr13:48698600-48701200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr13:48698600-48701400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr13:48698600-48701400	Weak transcription	Small Intestine	intestine
30	chr13:48698800-48699600	Weak transcription	Ovary	ovary
31	chr13:48698800-48699800	Weak transcription	Brain Hippocampus Middle	brain
32	chr13:48698800-48699800	Weak transcription	Fetal Lung	lung
33	chr13:48698800-48699800	Weak transcription	Stomach Mucosa	stomach
34	chr13:48698800-48700000	Weak transcription	Gastric	stomach
35	chr13:48698800-48700000	Weak transcription	Right Ventricle	heart
36	chr13:48698800-48701200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr13:48698800-48701200	Weak transcription	NHEK	skin
38	chr13:48698800-48701400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr13:48699200-48699600	Weak transcription	Right Atrium	heart
40	chr13:48699400-48699600	Enhancers	Stomach Smooth Muscle	stomach
41	chr13:48699400-48699800	Enhancers	Esophagus	oesophagus
42	chr13:48699400-48700000	Enhancers	Colon Smooth Muscle	Colon

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