Variant report

Variant	rs73069777
Chromosome Location	chr2:211305557-211305558
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1468957	1.00[EUR][1000 genomes]
rs16844452	1.00[EUR][1000 genomes]
rs16844505	1.00[EUR][1000 genomes]
rs16844536	1.00[EUR][1000 genomes]
rs16844550	1.00[EUR][1000 genomes]
rs16844551	1.00[EUR][1000 genomes]
rs16844579	1.00[EUR][1000 genomes]
rs16844625	1.00[EUR][1000 genomes]
rs2098502	1.00[EUR][1000 genomes]
rs4263061	1.00[EUR][1000 genomes]
rs59821750	1.00[EUR][1000 genomes]
rs60428496	1.00[EUR][1000 genomes]
rs60981818	1.00[EUR][1000 genomes]
rs61291087	1.00[EUR][1000 genomes]
rs6713369	1.00[EUR][1000 genomes]
rs6721139	1.00[EUR][1000 genomes]
rs6742717	1.00[EUR][1000 genomes]
rs6743023	1.00[EUR][1000 genomes]
rs6745362	1.00[EUR][1000 genomes]
rs73069742	1.00[EUR][1000 genomes]
rs73069798	1.00[EUR][1000 genomes]
rs73071716	1.00[EUR][1000 genomes]
rs73071719	1.00[EUR][1000 genomes]
rs73071732	1.00[EUR][1000 genomes]
rs73071736	1.00[EUR][1000 genomes]
rs73984617	1.00[EUR][1000 genomes]
rs7560638	1.00[EUR][1000 genomes]
rs7569730	1.00[EUR][1000 genomes]
rs7571548	1.00[EUR][1000 genomes]
rs7571893	1.00[EUR][1000 genomes]
rs7600777	1.00[EUR][1000 genomes]
rs7600898	1.00[EUR][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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211292400-211323000	Weak transcription	Fetal Brain Male	brain
2	chr2:211293000-211305800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:211293200-211307400	Strong transcription	Primary B cells from peripheral blood	blood
4	chr2:211293200-211307800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:211293200-211311600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:211293800-211335400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:211294800-211306200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:211294800-211306400	Strong transcription	Dnd41	blood
9	chr2:211294800-211322200	Weak transcription	K562	blood
10	chr2:211294800-211333200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:211295000-211306600	Strong transcription	Brain Cingulate Gyrus	brain
12	chr2:211295000-211307400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:211295000-211330400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:211295000-211336000	Weak transcription	Colonic Mucosa	Colon
15	chr2:211295000-211340600	Weak transcription	HUVEC	blood vessel
16	chr2:211295400-211309200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:211295600-211306200	Strong transcription	Adipose Nuclei	Adipose
18	chr2:211295600-211306600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:211295600-211307800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr2:211295600-211308000	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr2:211295800-211306000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr2:211295800-211306000	Strong transcription	HSMMtube	muscle
23	chr2:211295800-211307200	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:211295800-211307400	Strong transcription	Fetal Thymus	thymus
25	chr2:211295800-211307600	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr2:211296000-211305600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:211296000-211305800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr2:211296000-211306000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:211296000-211307600	Strong transcription	Primary B cells from cord blood	blood
30	chr2:211296000-211309000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:211296000-211340200	Weak transcription	Small Intestine	intestine
32	chr2:211296400-211309200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:211296400-211341000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr2:211296600-211306600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:211297200-211307000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr2:211297400-211306000	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr2:211297400-211309000	Strong transcription	Brain Angular Gyrus	brain
38	chr2:211297400-211321400	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr2:211297800-211336200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr2:211298000-211306400	Strong transcription	Brain Anterior Caudate	brain
41	chr2:211299400-211307000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr2:211299400-211322600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr2:211299600-211322400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:211299800-211306000	Strong transcription	Ovary	ovary
45	chr2:211299800-211318600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr2:211299800-211330000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:211300200-211326000	Weak transcription	NHDF-Ad	bronchial
48	chr2:211300400-211329800	Weak transcription	A549	lung
49	chr2:211301200-211317000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr2:211301200-211319200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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