Variant report

Variant	rs62158020
Chromosome Location	chr2:99319499-99319500
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99295601..99297779-chr2:99317572..99320188,2	K562	blood:
2	chr2:99307361..99309748-chr2:99317489..99320461,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10172913	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496329	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12464653	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12467276	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12468086	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12469616	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2309434	0.90[ASN][1000 genomes]
rs2871235	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55633363	0.90[ASN][1000 genomes]
rs55646762	0.90[ASN][1000 genomes]
rs56027617	0.90[ASN][1000 genomes]
rs56354279	0.90[ASN][1000 genomes]
rs56363239	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56375699	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs60889948	0.87[ASN][1000 genomes]
rs62158010	0.90[ASN][1000 genomes]
rs62158015	0.90[ASN][1000 genomes]
rs62158019	0.84[EUR][1000 genomes]
rs62158022	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6742760	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs882164	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][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	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv2841	chr2:99296874-99342362	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99293400-99325200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:99295000-99325200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:99303200-99336400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:99310800-99320200	Weak transcription	Thymus	Thymus
5	chr2:99311400-99320800	Weak transcription	Dnd41	blood
6	chr2:99313000-99327000	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr2:99313200-99326600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr2:99314200-99322000	Enhancers	Fetal Intestine Small	intestine
9	chr2:99315000-99322200	Enhancers	Fetal Intestine Large	intestine
10	chr2:99316000-99320800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr2:99316400-99325000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:99316600-99336400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:99317400-99319600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:99317400-99320600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:99317400-99320600	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr2:99317400-99321400	Enhancers	Liver	Liver
17	chr2:99317400-99321800	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr2:99317600-99319800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:99317600-99320400	Enhancers	Brain Cingulate Gyrus	brain
20	chr2:99317600-99321800	Enhancers	Fetal Heart	heart
21	chr2:99317600-99322000	Enhancers	Stomach Mucosa	stomach
22	chr2:99317800-99320400	Enhancers	Fetal Lung	lung
23	chr2:99317800-99321000	Enhancers	Fetal Stomach	stomach
24	chr2:99317800-99321600	Enhancers	Brain Hippocampus Middle	brain
25	chr2:99317800-99322800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:99318000-99325200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:99318400-99319600	Genic enhancers	Fetal Thymus	thymus
28	chr2:99318400-99319600	Flanking Active TSS	HepG2	liver
29	chr2:99318400-99320600	Enhancers	Fetal Muscle Leg	muscle
30	chr2:99318400-99321200	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr2:99318400-99322800	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr2:99318600-99319600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr2:99318600-99319800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr2:99318600-99322200	Enhancers	Right Ventricle	heart
35	chr2:99318800-99319600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr2:99318800-99319800	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr2:99319000-99319600	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr2:99319000-99319800	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr2:99319000-99319800	Flanking Active TSS	HUVEC	blood vessel
40	chr2:99319000-99320000	Weak transcription	Small Intestine	intestine
41	chr2:99319000-99321600	Weak transcription	Brain Angular Gyrus	brain
42	chr2:99319000-99325400	Weak transcription	Primary B cells from peripheral blood	blood
43	chr2:99319200-99319600	Active TSS	Stomach Smooth Muscle	stomach
44	chr2:99319200-99319600	Active TSS	NHDF-Ad	bronchial
45	chr2:99319200-99320000	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr2:99319200-99320000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr2:99319200-99320000	Weak transcription	Colonic Mucosa	Colon
48	chr2:99319200-99320000	Weak transcription	Lung	lung
49	chr2:99319200-99320000	Enhancers	Rectal Smooth Muscle	rectum
50	chr2:99319200-99320200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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