Variant report

Variant	rs11953034
Chromosome Location	chr5:112909921-112909922
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10037429	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10072577	1.00[ASN][1000 genomes]
rs1035409	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11739848	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11744710	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11744737	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11745445	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11746529	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11746565	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11747062	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13153791	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13160021	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13161610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13161969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13166822	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13167659	1.00[ASN][1000 genomes]
rs13170908	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13171273	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13171389	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13172774	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13180262	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13187776	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164252	0.83[AMR][1000 genomes]
rs17332053	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17333442	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs182988	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2860483	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2910017	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2914151	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2914152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34158516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34161832	0.85[AFR][1000 genomes]
rs34554590	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34870059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348919	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs348921	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs348922	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs348923	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs348934	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs348935	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs348939	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35077609	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35274088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35364742	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs414475	0.82[ASN][1000 genomes]
rs419483	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs421515	0.82[ASN][1000 genomes]
rs4410636	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs446272	0.82[ASN][1000 genomes]
rs458055	0.82[ASN][1000 genomes]
rs4705554	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4705829	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58479323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59007160	0.81[AFR][1000 genomes]
rs59757131	0.86[AFR][1000 genomes]
rs6594727	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66838021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67382821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67881502	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs68131815	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71577453	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7703186	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7705255	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7729214	0.86[AFR][1000 genomes]
rs7736165	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112867000-112910000	Weak transcription	Right Ventricle	heart
2	chr5:112867200-112910000	Weak transcription	Esophagus	oesophagus
3	chr5:112867400-112926000	Weak transcription	Small Intestine	intestine
4	chr5:112867400-112933000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:112868600-112911400	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr5:112869200-112910000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:112870200-112930800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr5:112872000-112915000	Weak transcription	Hela-S3	cervix
9	chr5:112876000-112918800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:112886600-112911200	Strong transcription	Primary B cells from peripheral blood	blood
11	chr5:112889400-112930600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:112889800-112910000	Weak transcription	HSMMtube	muscle
13	chr5:112890600-112915800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:112891600-112912600	Weak transcription	Stomach Mucosa	stomach
15	chr5:112892800-112915000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:112894400-112911800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr5:112894600-112910800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:112895000-112911400	Strong transcription	Dnd41	blood
19	chr5:112898200-112921200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr5:112899400-112929400	Weak transcription	HepG2	liver
21	chr5:112900400-112915800	Weak transcription	HUVEC	blood vessel
22	chr5:112901000-112911000	Strong transcription	Fetal Lung	lung
23	chr5:112901000-112911800	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr5:112901400-112910800	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr5:112901400-112911600	Strong transcription	Adipose Nuclei	Adipose
26	chr5:112901800-112911400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr5:112902000-112910000	Weak transcription	Osteobl	bone
28	chr5:112902200-112911600	Strong transcription	Primary B cells from cord blood	blood
29	chr5:112902800-112910800	Strong transcription	Fetal Muscle Trunk	muscle
30	chr5:112903000-112910000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr5:112903000-112917000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr5:112903600-112910000	Weak transcription	K562	blood
33	chr5:112903600-112910000	Weak transcription	NHDF-Ad	bronchial
34	chr5:112904400-112910000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr5:112904400-112910000	Weak transcription	Gastric	stomach
36	chr5:112904400-112910200	Weak transcription	GM12878-XiMat	blood
37	chr5:112904400-112917200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr5:112904600-112934800	Weak transcription	Psoas Muscle	Psoas
39	chr5:112904800-112910000	Weak transcription	Brain Substantia Nigra	brain
40	chr5:112904800-112916200	Weak transcription	Fetal Heart	heart
41	chr5:112905000-112910000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr5:112905400-112910000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr5:112905600-112910000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr5:112906000-112910800	Strong transcription	Fetal Intestine Large	intestine
45	chr5:112906400-112911400	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr5:112906800-112910000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr5:112906800-112911400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr5:112907200-112915600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr5:112907400-112915600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr5:112907400-112932000	Weak transcription	Rectal Smooth Muscle	rectum

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