Variant report

Variant	rs13410586
Chromosome Location	chr2:114506948-114506949
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:114502081..114505265-chr2:114506147..114510534,5	K562	blood:
2	chr2:114505270..114508161-chr2:114512124..114515717,3	K562	blood:
3	chr2:114502561..114504312-chr2:114505354..114506970,2	K562	blood:
4	chr2:114506134..114509664-chr2:114511925..114515702,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115084	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10169190	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10197009	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10199515	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10208651	0.93[ASN][1000 genomes]
rs1062074	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs11123202	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11123203	0.93[ASN][1000 genomes]
rs11677168	0.93[ASN][1000 genomes]
rs12329244	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12711781	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12711787	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12986781	0.86[ASN][1000 genomes]
rs13003858	0.86[ASN][1000 genomes]
rs13025042	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13028979	0.93[ASN][1000 genomes]
rs13389017	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13393247	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13395272	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13401587	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13407986	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13408264	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13409879	0.84[EUR][1000 genomes]
rs13416738	0.89[EUR][1000 genomes]
rs13417896	0.93[ASN][1000 genomes]
rs13424899	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13428433	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17048297	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17048299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17048506	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17633451	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs28392566	0.87[EUR][1000 genomes]
rs34026450	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34451679	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34480436	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35049717	0.86[EUR][1000 genomes]
rs35073956	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35255260	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3762491	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs62158991	0.81[ASN][1000 genomes]
rs62170066	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6722177	0.87[ASN][1000 genomes]
rs7589738	1.00[CHB][hapmap]
rs7600251	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs998151	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009509	chr2:114432965-114557306	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv535896	chr2:114432965-114557306	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 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	chr2:114458200-114512600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:114461400-114513200	Weak transcription	Small Intestine	intestine
3	chr2:114465200-114512000	Weak transcription	Stomach Mucosa	stomach
4	chr2:114468800-114512800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:114469400-114510400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr2:114470200-114511200	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr2:114470400-114510800	Strong transcription	HSMM	muscle
8	chr2:114474400-114507600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:114478800-114507600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:114478800-114510600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:114479200-114510400	Strong transcription	Liver	Liver
12	chr2:114479800-114507000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:114481200-114513000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:114484000-114511200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:114484400-114510600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:114484600-114512600	Weak transcription	Aorta	Aorta
17	chr2:114485200-114511200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:114487200-114513200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr2:114488400-114512600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:114492200-114513000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr2:114494200-114510400	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr2:114494200-114510600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:114494200-114511000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:114494400-114509400	Strong transcription	Adipose Nuclei	Adipose
25	chr2:114494400-114511200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:114494400-114511600	Strong transcription	Osteobl	bone
27	chr2:114494600-114507000	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:114494600-114510400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:114494800-114507200	Strong transcription	Stomach Smooth Muscle	stomach
30	chr2:114494800-114510200	Strong transcription	HepG2	liver
31	chr2:114495000-114508800	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr2:114495400-114509200	Strong transcription	Primary B cells from peripheral blood	blood
33	chr2:114495800-114511200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr2:114495800-114512200	Weak transcription	Fetal Heart	heart
35	chr2:114496200-114510600	Strong transcription	Placenta	Placenta
36	chr2:114496600-114510400	Strong transcription	NHDF-Ad	bronchial
37	chr2:114497400-114507200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:114497600-114510600	Strong transcription	Fetal Muscle Leg	muscle
39	chr2:114498400-114511400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:114499200-114512600	Weak transcription	Esophagus	oesophagus
41	chr2:114500000-114507200	Strong transcription	Brain Anterior Caudate	brain
42	chr2:114500000-114508000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:114500400-114509800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:114500600-114512600	Weak transcription	Hela-S3	cervix
45	chr2:114501400-114512000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr2:114501800-114507400	Weak transcription	HMEC	breast
47	chr2:114501800-114510200	Weak transcription	HUVEC	blood vessel
48	chr2:114502000-114512200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr2:114502200-114507200	Weak transcription	K562	blood
50	chr2:114502200-114513000	Weak transcription	H1 Cell Line	embryonic stem cell

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