Variant report

Variant	rs11720848
Chromosome Location	chr3:53783697-53783698
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11705918	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs13068596	0.81[AMR][1000 genomes]
rs2253795	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2612028	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2680648	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35146621	0.87[AMR][1000 genomes]
rs35447065	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3774573	0.91[CEU][hapmap];0.93[EUR][1000 genomes]
rs3774574	0.95[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3774583	0.95[CEU][hapmap];0.89[CHB][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3774594	0.81[AMR][1000 genomes]
rs719260	0.95[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73092085	0.89[EUR][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	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1001128	chr3:53659570-53927842	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1013783	chr3:53694418-53934781	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1002452	chr3:53742148-53802811	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv520027	chr3:53762713-53784625	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53765000-53788600	Weak transcription	Fetal Kidney	kidney
2	chr3:53768600-53801000	Strong transcription	Fetal Lung	lung
3	chr3:53769600-53787400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr3:53773000-53807600	Strong transcription	Fetal Intestine Large	intestine
5	chr3:53774200-53789200	Weak transcription	Fetal Brain Male	brain
6	chr3:53774600-53785000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr3:53774800-53807200	Strong transcription	Fetal Intestine Small	intestine
8	chr3:53777800-53787600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr3:53778600-53806400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr3:53778800-53783800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr3:53778800-53797000	Weak transcription	Pancreas	Pancrea
12	chr3:53779000-53784000	Weak transcription	Fetal Thymus	thymus
13	chr3:53779000-53806400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr3:53779400-53787800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr3:53779800-53788800	Strong transcription	Brain Inferior Temporal Lobe	brain
16	chr3:53780200-53787200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr3:53780400-53785400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr3:53780400-53807000	Weak transcription	Fetal Brain Female	brain
19	chr3:53780600-53785200	Weak transcription	Liver	Liver
20	chr3:53781000-53784800	Enhancers	Primary B cells from peripheral blood	blood
21	chr3:53781200-53784600	Enhancers	Primary B cells from cord blood	blood
22	chr3:53781400-53785000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr3:53781600-53784000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr3:53781600-53784800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr3:53781800-53783800	Enhancers	H1 Cell Line	embryonic stem cell
26	chr3:53781800-53784000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr3:53781800-53784800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr3:53781800-53807400	Weak transcription	Brain Anterior Caudate	brain
29	chr3:53782000-53783800	Enhancers	H9 Cell Line	embryonic stem cell
30	chr3:53782200-53784000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr3:53782400-53784400	Flanking Active TSS	GM12878-XiMat	blood
32	chr3:53782600-53783800	Weak transcription	Adipose Nuclei	Adipose
33	chr3:53782600-53787400	Weak transcription	Lung	lung
34	chr3:53783000-53783800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr3:53783000-53784000	Weak transcription	Brain Germinal Matrix	brain
36	chr3:53783200-53783800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr3:53783400-53783800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr3:53783400-53783800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr3:53783400-53783800	Strong transcription	Stomach Smooth Muscle	stomach
40	chr3:53783400-53784200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
41	chr3:53783400-53784200	Weak transcription	Spleen	Spleen
42	chr3:53783400-53785400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr3:53783400-53786000	Strong transcription	Brain Angular Gyrus	brain

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