Variant report

Variant	rs11950116
Chromosome Location	chr5:112906599-112906600
allele	C/T
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:31)

rs_ID	r²[population]
rs10035297	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10042141	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10070825	0.90[ASN][1000 genomes]
rs10075927	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10155616	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10440762	0.96[ASN][1000 genomes]
rs10477494	0.90[ASN][1000 genomes]
rs11950577	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12332461	0.92[ASN][1000 genomes]
rs12652864	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12653115	0.81[EUR][1000 genomes]
rs12656898	1.00[EUR][1000 genomes]
rs12659463	0.81[EUR][1000 genomes]
rs12659593	0.81[EUR][1000 genomes]
rs13356509	0.90[ASN][1000 genomes]
rs1582487	1.00[EUR][1000 genomes]
rs17135647	0.82[EUR][1000 genomes]
rs1816063	0.91[EUR][1000 genomes]
rs36009332	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36015377	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3763136	0.81[EUR][1000 genomes]
rs3843500	0.86[EUR][1000 genomes]
rs4345310	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56090613	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58014465	0.81[EUR][1000 genomes]
rs6866028	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6879177	0.90[ASN][1000 genomes]
rs73781720	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7719254	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7731451	0.90[ASN][1000 genomes]
rs9654506	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882720	chr5:112859994-112911165	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv882721	chr5:112859994-112963488	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv882723	chr5:112868878-112911165	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv882724	chr5:112868878-112933202	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv1033202	chr5:112891857-112945992	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 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	chr5:112850600-112908400	Weak transcription	Colonic Mucosa	Colon
2	chr5:112867000-112910000	Weak transcription	Right Ventricle	heart
3	chr5:112867200-112909800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:112867200-112909800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:112867200-112910000	Weak transcription	Esophagus	oesophagus
6	chr5:112867400-112926000	Weak transcription	Small Intestine	intestine
7	chr5:112867400-112933000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr5:112868600-112911400	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr5:112869200-112910000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:112870200-112930800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr5:112872000-112915000	Weak transcription	Hela-S3	cervix
12	chr5:112873400-112908800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:112874000-112909600	Weak transcription	Spleen	Spleen
14	chr5:112876000-112918800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:112882800-112909600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:112883800-112907400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:112884200-112908000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:112886600-112911200	Strong transcription	Primary B cells from peripheral blood	blood
19	chr5:112888000-112908200	Strong transcription	Liver	Liver
20	chr5:112888800-112908400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr5:112889400-112930600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:112889800-112909600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr5:112889800-112910000	Weak transcription	HSMMtube	muscle
24	chr5:112890600-112915800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr5:112891600-112906600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr5:112891600-112908200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr5:112891600-112912600	Weak transcription	Stomach Mucosa	stomach
28	chr5:112892000-112906600	Strong transcription	Placenta	Placenta
29	chr5:112892800-112915000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr5:112894400-112911800	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr5:112894600-112910800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:112894800-112907400	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr5:112894800-112908000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr5:112895000-112911400	Strong transcription	Dnd41	blood
35	chr5:112896000-112908400	Weak transcription	Brain Hippocampus Middle	brain
36	chr5:112896800-112909800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:112896800-112909800	Weak transcription	NHEK	skin
38	chr5:112898000-112909000	Weak transcription	Colon Smooth Muscle	Colon
39	chr5:112898200-112906600	Weak transcription	Left Ventricle	heart
40	chr5:112898200-112921200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr5:112898400-112909600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr5:112898600-112909800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr5:112899400-112929400	Weak transcription	HepG2	liver
44	chr5:112899800-112909800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr5:112900400-112915800	Weak transcription	HUVEC	blood vessel
46	chr5:112901000-112906800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:112901000-112911000	Strong transcription	Fetal Lung	lung
48	chr5:112901000-112911800	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr5:112901200-112907600	Strong transcription	Primary hematopoietic stem cells	blood
50	chr5:112901200-112909000	Strong transcription	Duodenum Mucosa	Duodenum

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