Variant report

Variant	rs73984617
Chromosome Location	chr2:211322964-211322965
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

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]
rs73069777	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]
rs73984620	0.81[AFR][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	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
2	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
3	esv3398091	chr2:211315261-211634200	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 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	chr2:211293800-211335400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:211294800-211333200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:211295000-211330400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:211295000-211336000	Weak transcription	Colonic Mucosa	Colon
6	chr2:211295000-211340600	Weak transcription	HUVEC	blood vessel
7	chr2:211296000-211340200	Weak transcription	Small Intestine	intestine
8	chr2:211296400-211341000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr2:211297800-211336200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:211299800-211330000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:211300200-211326000	Weak transcription	NHDF-Ad	bronchial
12	chr2:211300400-211329800	Weak transcription	A549	lung
13	chr2:211301200-211325400	Weak transcription	Esophagus	oesophagus
14	chr2:211301200-211330000	Weak transcription	Gastric	stomach
15	chr2:211301200-211340200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:211301200-211340600	Weak transcription	Fetal Intestine Small	intestine
17	chr2:211301200-211340800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:211301400-211330000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:211301400-211330800	Weak transcription	Right Ventricle	heart
20	chr2:211301400-211334400	Weak transcription	NHEK	skin
21	chr2:211301400-211336000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr2:211305600-211326600	Weak transcription	Brain Germinal Matrix	brain
23	chr2:211306000-211330000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:211306200-211326800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:211308000-211332400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr2:211314200-211328800	Strong transcription	Primary T cells from cord blood	blood
27	chr2:211314400-211327000	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr2:211315400-211327200	Strong transcription	Primary hematopoietic stem cells	blood
29	chr2:211315400-211340000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:211315600-211323400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:211315600-211323400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:211315600-211325600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr2:211315600-211337800	Strong transcription	Fetal Thymus	thymus
34	chr2:211315600-211339600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:211315800-211337200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:211315800-211337800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:211316000-211338000	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr2:211316200-211323000	Strong transcription	HepG2	liver
39	chr2:211316200-211324600	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr2:211316200-211325400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:211316200-211326800	Strong transcription	Duodenum Mucosa	Duodenum
42	chr2:211316200-211337800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:211316200-211337800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:211316400-211323400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr2:211316400-211324600	Strong transcription	Adipose Nuclei	Adipose
46	chr2:211316400-211327200	Strong transcription	Fetal Intestine Large	intestine
47	chr2:211316600-211339000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr2:211316800-211323600	Strong transcription	Liver	Liver
49	chr2:211316800-211327200	Strong transcription	Fetal Lung	lung
50	chr2:211316800-211338800	Strong transcription	Dnd41	blood

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