Variant report

Variant	rs56410612
Chromosome Location	chr2:40467974-40467975
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10180584	0.98[ASN][1000 genomes]
rs11124737	0.93[ASN][1000 genomes]
rs4581943	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4952599	0.97[ASN][1000 genomes]
rs6716847	0.97[ASN][1000 genomes]
rs6737759	0.98[ASN][1000 genomes]
rs7593406	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7602176	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs877099	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv1851152	chr2:40393223-40512023	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	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
4	nsv1008190	chr2:40429442-40506772	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv34071	chr2:40435231-40578229	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv524586	chr2:40447587-40497501	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40448000-40487400	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr2:40451400-40490000	Weak transcription	Dnd41	blood
3	chr2:40453800-40471000	Weak transcription	Right Ventricle	heart
4	chr2:40453800-40471400	Weak transcription	Right Atrium	heart
5	chr2:40465600-40468000	Enhancers	Rectal Smooth Muscle	rectum
6	chr2:40465800-40468800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:40465800-40469600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:40466000-40468200	Enhancers	Colon Smooth Muscle	Colon
9	chr2:40466200-40468600	Enhancers	Fetal Heart	heart
10	chr2:40466400-40468200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:40466600-40468000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:40466600-40468000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:40466600-40468000	Enhancers	Fetal Muscle Leg	muscle
14	chr2:40466600-40468000	Enhancers	Fetal Stomach	stomach
15	chr2:40466600-40468000	Enhancers	NHLF	lung
16	chr2:40466600-40468200	Enhancers	Adipose Nuclei	Adipose
17	chr2:40466600-40468200	Enhancers	Osteobl	bone
18	chr2:40466600-40468600	Enhancers	NHDF-Ad	bronchial
19	chr2:40466800-40468000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr2:40466800-40468000	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr2:40466800-40468000	Enhancers	Fetal Lung	lung
22	chr2:40466800-40468000	Enhancers	HSMM	muscle
23	chr2:40467000-40468000	Enhancers	HMEC	breast
24	chr2:40467000-40468000	Enhancers	HSMMtube	muscle
25	chr2:40467000-40468000	Enhancers	NH-A	brain
26	chr2:40467200-40468000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:40467200-40468000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:40467200-40468200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:40467200-40468200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:40467400-40468000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:40467400-40468000	Enhancers	Colonic Mucosa	Colon
32	chr2:40467400-40468000	Enhancers	Left Ventricle	heart
33	chr2:40467400-40468000	Enhancers	Ovary	ovary
34	chr2:40467400-40468000	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr2:40467400-40468000	Enhancers	HUVEC	blood vessel
36	chr2:40467400-40468000	Enhancers	NHEK	skin
37	chr2:40467400-40468200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr2:40467600-40468000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:40467600-40468000	Enhancers	Stomach Smooth Muscle	stomach
40	chr2:40467600-40469200	Weak transcription	Psoas Muscle	Psoas
41	chr2:40467600-40469400	Weak transcription	Brain Germinal Matrix	brain
42	chr2:40467600-40471000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr2:40467800-40468000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:40467800-40468000	Enhancers	Aorta	Aorta
45	chr2:40467800-40468200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:40467800-40487400	Weak transcription	Primary monocytes fromperipheralblood	blood

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