Variant report

Variant	rs3820834
Chromosome Location	chr2:174025228-174025229
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1345008	1.00[CHB][hapmap]
rs1439976	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17302439	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17302684	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17375006	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17761097	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769178	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769198	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3769202	1.00[ASN][1000 genomes]
rs3769209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3769221	1.00[CEU][hapmap]
rs41268711	1.00[AMR][1000 genomes]
rs7585076	1.00[ASN][1000 genomes]
rs7585396	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

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	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv834461	chr2:173979734-174038471	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174012800-174026600	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr2:174013400-174025400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:174015400-174027400	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:174015400-174047000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:174016200-174048800	Weak transcription	K562	blood
6	chr2:174016400-174028200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:174018000-174025400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:174021600-174025600	Weak transcription	Fetal Intestine Small	intestine
9	chr2:174021600-174027000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:174021600-174027800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:174021600-174030400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:174021800-174025400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:174021800-174026400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:174022000-174027800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:174022400-174025400	Enhancers	NHDF-Ad	bronchial
16	chr2:174022400-174026400	Enhancers	NHEK	skin
17	chr2:174022400-174026600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:174022400-174026600	Enhancers	HMEC	breast
19	chr2:174022600-174025400	Weak transcription	Left Ventricle	heart
20	chr2:174022600-174025400	Weak transcription	Psoas Muscle	Psoas
21	chr2:174023600-174025400	Weak transcription	Aorta	Aorta
22	chr2:174023800-174026600	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr2:174024000-174026600	Enhancers	Osteobl	bone
24	chr2:174024200-174025800	Enhancers	Lung	lung
25	chr2:174024200-174025800	Enhancers	Ovary	ovary
26	chr2:174024200-174025800	Enhancers	HSMM	muscle
27	chr2:174024200-174026000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:174024200-174026200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:174024200-174026200	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr2:174024200-174026600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr2:174024200-174026600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:174024200-174026600	Enhancers	Adipose Nuclei	Adipose
33	chr2:174024200-174026600	Enhancers	Liver	Liver
34	chr2:174024200-174026600	Enhancers	Fetal Heart	heart
35	chr2:174024400-174025400	Weak transcription	Esophagus	oesophagus
36	chr2:174024400-174025800	Flanking Active TSS	A549	lung
37	chr2:174024400-174026000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:174024400-174026000	Enhancers	NH-A	brain
39	chr2:174024400-174026400	Enhancers	Colon Smooth Muscle	Colon
40	chr2:174024400-174026400	Enhancers	Stomach Smooth Muscle	stomach
41	chr2:174024600-174025400	Weak transcription	Small Intestine	intestine
42	chr2:174024600-174025600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:174024600-174025800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:174024800-174025400	Weak transcription	Fetal Lung	lung
45	chr2:174024800-174025400	Active TSS	Right Ventricle	heart
46	chr2:174024800-174025600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:174024800-174025800	Active TSS	Primary B cells from cord blood	blood
48	chr2:174024800-174025800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr2:174024800-174025800	Weak transcription	Gastric	stomach
50	chr2:174024800-174026000	Flanking Active TSS	NHLF	lung

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