Variant report

Variant	rs73069766
Chromosome Location	chr2:211298637-211298638
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11884102	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11884181	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57335323	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58211283	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59537642	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60412797	1.00[AMR][1000 genomes]
rs73067660	1.00[AMR][1000 genomes]
rs73067699	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73069732	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73069733	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73069739	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73069746	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73069754	1.00[AMR][1000 genomes]
rs73069755	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73069756	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73069760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73069772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73069773	1.00[AMR][1000 genomes]
rs73069774	1.00[AMR][1000 genomes]
rs73069775	1.00[AMR][1000 genomes]
rs73069776	1.00[AMR][1000 genomes]
rs73069781	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73071705	1.00[AMR][1000 genomes]
rs73073540	1.00[AMR][1000 genomes]
rs73073545	1.00[AMR][1000 genomes]
rs73073546	1.00[AMR][1000 genomes]
rs73073547	1.00[AMR][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	nsv1012567	chr2:211087588-211315554	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv875767	chr2:211119233-211334647	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv3147	chr2:211281479-211326844	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211287200-211299200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:211287200-211299600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:211290600-211299000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:211291400-211299400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:211291600-211299000	Weak transcription	Lung	lung
6	chr2:211291600-211300800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:211291800-211299600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:211292400-211323000	Weak transcription	Fetal Brain Male	brain
9	chr2:211293000-211299400	Weak transcription	Esophagus	oesophagus
10	chr2:211293000-211305800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:211293200-211299000	Weak transcription	Brain Germinal Matrix	brain
12	chr2:211293200-211299000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:211293200-211299200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:211293200-211307400	Strong transcription	Primary B cells from peripheral blood	blood
15	chr2:211293200-211307800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:211293200-211311600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:211293400-211299000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:211293600-211299000	Weak transcription	Pancreas	Pancrea
19	chr2:211293800-211299400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr2:211293800-211299400	Weak transcription	Spleen	Spleen
21	chr2:211293800-211335400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:211294200-211299200	Enhancers	Fetal Heart	heart
23	chr2:211294200-211301400	Strong transcription	Primary T cells from cord blood	blood
24	chr2:211294400-211303400	Weak transcription	NHLF	lung
25	chr2:211294800-211306200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:211294800-211306400	Strong transcription	Dnd41	blood
27	chr2:211294800-211322200	Weak transcription	K562	blood
28	chr2:211294800-211333200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr2:211295000-211306600	Strong transcription	Brain Cingulate Gyrus	brain
30	chr2:211295000-211307400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:211295000-211330400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:211295000-211336000	Weak transcription	Colonic Mucosa	Colon
33	chr2:211295000-211340600	Weak transcription	HUVEC	blood vessel
34	chr2:211295200-211299000	Weak transcription	Placenta	Placenta
35	chr2:211295200-211299400	Weak transcription	Right Ventricle	heart
36	chr2:211295400-211309200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:211295600-211301800	Strong transcription	Stomach Smooth Muscle	stomach
38	chr2:211295600-211302000	Strong transcription	Brain Inferior Temporal Lobe	brain
39	chr2:211295600-211302400	Strong transcription	Primary hematopoietic stem cells	blood
40	chr2:211295600-211302400	Strong transcription	Brain Hippocampus Middle	brain
41	chr2:211295600-211305200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:211295600-211306200	Strong transcription	Adipose Nuclei	Adipose
43	chr2:211295600-211306600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:211295600-211307800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr2:211295600-211308000	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr2:211295800-211301600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr2:211295800-211302600	Strong transcription	Liver	Liver
48	chr2:211295800-211302600	Strong transcription	Fetal Brain Female	brain
49	chr2:211295800-211305200	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr2:211295800-211306000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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