Variant report

Variant	rs11684372
Chromosome Location	chr2:40659737-40659738
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11681856	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11683359	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17466980	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55929619	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6705173	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6709329	0.84[AMR][1000 genomes];0.88[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	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40646600-40670800	Weak transcription	Fetal Brain Female	brain
2	chr2:40647600-40662200	Weak transcription	Brain Germinal Matrix	brain
3	chr2:40648000-40667200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:40648200-40676400	Weak transcription	Fetal Kidney	kidney
5	chr2:40653000-40674800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:40654200-40662200	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:40655000-40665000	Weak transcription	Fetal Brain Male	brain
8	chr2:40655400-40659800	Strong transcription	Dnd41	blood
9	chr2:40657000-40671200	Weak transcription	Fetal Stomach	stomach
10	chr2:40657200-40660600	Enhancers	Rectal Smooth Muscle	rectum
11	chr2:40657200-40662000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:40657400-40659800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:40657800-40663000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:40657800-40666600	Enhancers	Colon Smooth Muscle	Colon
15	chr2:40658000-40660800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr2:40658000-40663600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:40658000-40664000	Enhancers	NHDF-Ad	bronchial
18	chr2:40658000-40664200	Enhancers	HMEC	breast
19	chr2:40658200-40660000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr2:40658200-40660000	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr2:40658200-40660000	Enhancers	Left Ventricle	heart
22	chr2:40658200-40660400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr2:40658200-40661800	Enhancers	HSMMtube	muscle
24	chr2:40658200-40662200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:40658200-40663400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:40658200-40663600	Enhancers	Osteobl	bone
27	chr2:40658200-40665400	Enhancers	NHLF	lung
28	chr2:40658400-40660000	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr2:40658400-40661400	Enhancers	Stomach Smooth Muscle	stomach
30	chr2:40658400-40663600	Enhancers	Adipose Nuclei	Adipose
31	chr2:40658600-40661800	Enhancers	NHEK	skin
32	chr2:40658600-40663400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:40658600-40663800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:40658800-40660000	Enhancers	Fetal Intestine Large	intestine
35	chr2:40658800-40660200	Weak transcription	Aorta	Aorta
36	chr2:40658800-40661200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:40658800-40662000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:40658800-40662800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:40659000-40660600	Weak transcription	HUVEC	blood vessel
40	chr2:40659000-40660800	Weak transcription	Right Ventricle	heart
41	chr2:40659000-40662200	Weak transcription	Ovary	ovary
42	chr2:40659200-40660200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:40659200-40660800	Weak transcription	Fetal Muscle Leg	muscle
44	chr2:40659200-40661000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:40659200-40661600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:40659200-40661600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr2:40659200-40662000	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr2:40659200-40662000	Weak transcription	Brain Anterior Caudate	brain
49	chr2:40659200-40663400	Enhancers	Hela-S3	cervix
50	chr2:40659400-40659800	Flanking Active TSS	Fetal Heart	heart

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