Variant report

Variant	rs66521967
Chromosome Location	chr2:40672997-40672998
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17026033	0.84[ASN][1000 genomes]
rs17026039	0.84[ASN][1000 genomes]
rs4952624	0.80[AMR][1000 genomes]
rs66761062	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67261129	0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72613872	0.85[AMR][1000 genomes];0.80[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	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
5	nsv2700	chr2:40667461-40712805	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 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	chr2:40648200-40676400	Weak transcription	Fetal Kidney	kidney
2	chr2:40653000-40674800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:40662600-40677200	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:40663600-40677000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:40663600-40677000	Weak transcription	Aorta	Aorta
6	chr2:40663800-40677600	Weak transcription	HSMMtube	muscle
7	chr2:40664600-40673000	Weak transcription	Left Ventricle	heart
8	chr2:40665200-40675200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:40665400-40674800	Weak transcription	NHLF	lung
10	chr2:40666600-40673400	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:40666600-40676400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:40666600-40676600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:40666600-40677200	Weak transcription	Right Ventricle	heart
14	chr2:40666800-40675400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:40667000-40676200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:40667000-40676400	Weak transcription	HMEC	breast
17	chr2:40667200-40675200	Weak transcription	NHDF-Ad	bronchial
18	chr2:40668200-40675600	Weak transcription	Osteobl	bone
19	chr2:40668400-40676600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:40668600-40677200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr2:40668800-40673000	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr2:40668800-40673400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:40669600-40676800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr2:40669800-40674000	Genic enhancers	Fetal Heart	heart
25	chr2:40670000-40673800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:40670400-40674600	Strong transcription	HSMM	muscle
27	chr2:40671400-40675400	Weak transcription	Fetal Brain Female	brain
28	chr2:40671600-40673600	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr2:40672000-40675600	Genic enhancers	Dnd41	blood
30	chr2:40672200-40678200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:40672400-40673000	Enhancers	Brain Anterior Caudate	brain
32	chr2:40672400-40673200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:40672400-40674200	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr2:40672600-40673200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:40672600-40673800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:40672600-40675800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:40672600-40676800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:40672800-40673200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:40672800-40673600	Strong transcription	Fetal Stomach	stomach
40	chr2:40672800-40674000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr2:40672800-40675600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr2:40672800-40676800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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