Variant report

Variant	rs3088301
Chromosome Location	chr2:113372330-113372331
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11676691	0.81[EUR][1000 genomes]
rs11678996	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11691929	0.83[JPT][hapmap]
rs12476928	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13023016	0.85[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35743012	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3849316	0.98[ASN][1000 genomes]
rs3849317	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3980075	0.99[ASN][1000 genomes]
rs4368335	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs4547533	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4848284	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4849078	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4849079	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4849083	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6542065	0.98[ASN][1000 genomes]
rs6542066	0.97[ASN][1000 genomes]
rs6542067	0.97[ASN][1000 genomes]
rs6542068	0.91[ASN][1000 genomes]
rs6724434	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6740202	0.97[ASN][1000 genomes]
rs6748577	0.83[JPT][hapmap]
rs6757781	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs6758898	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7559385	0.91[ASN][1000 genomes]
rs7594007	0.83[JPT][hapmap]
rs908545	0.82[CEU][hapmap]
rs934748	0.82[JPT][hapmap]
rs934749	0.84[JPT][hapmap]

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	nsv874877	chr2:113287964-113382054	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv458997	chr2:113313794-113431092	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv582708	chr2:113313794-113431092	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113346800-113374600	Weak transcription	Ovary	ovary
2	chr2:113348600-113383600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:113349000-113384000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:113357800-113375200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:113357800-113384200	Weak transcription	Pancreas	Pancrea
6	chr2:113358000-113384000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:113364600-113372800	Weak transcription	Fetal Stomach	stomach
8	chr2:113370400-113383800	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:113370600-113377800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:113371600-113372800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:113371600-113372800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:113371600-113372800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:113371600-113374000	Enhancers	HepG2	liver
14	chr2:113371600-113382000	Weak transcription	Spleen	Spleen
15	chr2:113371800-113372400	Genic enhancers	Gastric	stomach
16	chr2:113371800-113372600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:113371800-113372600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:113371800-113373000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:113371800-113373200	Enhancers	H1 Cell Line	embryonic stem cell
20	chr2:113371800-113373200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr2:113371800-113373200	Strong transcription	Brain Germinal Matrix	brain
22	chr2:113372000-113372400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr2:113372000-113372400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr2:113372000-113372400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:113372000-113372400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:113372000-113372400	Strong transcription	Brain Anterior Caudate	brain
27	chr2:113372000-113372600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:113372000-113372600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr2:113372000-113372600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr2:113372000-113372600	Enhancers	Fetal Thymus	thymus
31	chr2:113372000-113372600	Enhancers	K562	blood
32	chr2:113372000-113372800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:113372000-113373000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:113372000-113373000	Strong transcription	Fetal Brain Female	brain
35	chr2:113372200-113372400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:113372200-113372800	Enhancers	H9 Cell Line	embryonic stem cell
37	chr2:113372200-113372800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr2:113372200-113373000	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr2:113372200-113379800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr2:113372200-113384200	Weak transcription	Fetal Intestine Small	intestine

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