Variant report

Variant	rs4073513
Chromosome Location	chr11:46071253-46071254
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46063771..46065667-chr11:46071208..46072854,2	K562	blood:
2	chr11:46069599..46074824-chr11:46075109..46078382,5	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10838535	0.87[JPT][hapmap]
rs11038720	0.87[JPT][hapmap]
rs1125290	0.87[JPT][hapmap]
rs1976182	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2860404	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.83[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2945999	0.81[JPT][hapmap];0.83[MEX][hapmap]
rs2946003	0.93[JPT][hapmap]
rs2959084	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959087	0.87[JPT][hapmap];1.00[YRI][hapmap]
rs2959090	0.87[JPT][hapmap];1.00[YRI][hapmap]
rs2959091	0.87[JPT][hapmap];1.00[YRI][hapmap]
rs2959099	0.87[JPT][hapmap]
rs4144718	0.84[CHD][hapmap];0.87[JPT][hapmap];0.83[MEX][hapmap];1.00[YRI][hapmap]
rs4237660	0.84[CHD][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap]
rs4756051	0.88[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs4756055	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6485654	0.87[JPT][hapmap]
rs7108186	0.84[CHD][hapmap];0.87[JPT][hapmap];0.87[MEX][hapmap]
rs7112677	0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs7114506	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7128184	0.84[CHD][hapmap];0.87[JPT][hapmap]
rs7926314	0.84[CHD][hapmap];0.87[JPT][hapmap]
rs7948502	0.84[CHD][hapmap];0.87[JPT][hapmap]
rs7950336	0.80[CHD][hapmap];0.87[JPT][hapmap]
rs7950391	0.84[CHD][hapmap];0.87[JPT][hapmap]
rs923530	0.97[ASN][1000 genomes]
rs939107	0.84[CHD][hapmap];0.87[JPT][hapmap]
rs950105	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs953230	1.00[ASW][hapmap];0.91[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];0.88[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.84[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv972922	chr11:46067269-46071441	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4073513	ARHGAP1	cis	parietal	SCAN
rs4073513	C11orf96	cis	parietal	SCAN

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46022000-46074600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr11:46039200-46077200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:46039400-46096800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr11:46041400-46086600	Weak transcription	Fetal Intestine Large	intestine
5	chr11:46043200-46086800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:46045000-46087000	Weak transcription	Hela-S3	cervix
7	chr11:46049200-46078800	Weak transcription	Aorta	Aorta
8	chr11:46062000-46100800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:46062200-46071600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr11:46062200-46071800	Weak transcription	Small Intestine	intestine
11	chr11:46063000-46086400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr11:46063200-46073600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr11:46063200-46087200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr11:46063200-46119800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr11:46063400-46073200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr11:46063400-46086600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr11:46063600-46098000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr11:46063600-46104600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr11:46064000-46097600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr11:46064800-46072200	Strong transcription	Primary B cells from cord blood	blood
21	chr11:46066200-46086800	Weak transcription	Dnd41	blood
22	chr11:46067200-46074600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr11:46067400-46086400	Weak transcription	Liver	Liver
24	chr11:46068000-46071600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr11:46068000-46073600	Weak transcription	K562	blood
26	chr11:46068400-46071600	Weak transcription	Ovary	ovary
27	chr11:46068400-46071800	Weak transcription	Brain Germinal Matrix	brain
28	chr11:46068600-46080600	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr11:46068800-46096800	Weak transcription	Fetal Thymus	thymus
30	chr11:46069200-46071400	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr11:46069200-46073400	Enhancers	HSMMtube	muscle
32	chr11:46069800-46071600	Weak transcription	HMEC	breast
33	chr11:46069800-46071600	Weak transcription	NHEK	skin
34	chr11:46069800-46071800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr11:46070200-46073200	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr11:46070400-46071600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr11:46070400-46072000	Strong transcription	Primary B cells from peripheral blood	blood
38	chr11:46070400-46072000	Enhancers	Primary hematopoietic stem cells	blood
39	chr11:46070400-46072600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:46070400-46073200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:46070400-46073200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:46070400-46073600	Enhancers	Fetal Heart	heart
43	chr11:46070400-46074000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:46070400-46074600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:46070600-46071600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:46070600-46071800	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr11:46070600-46072000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
48	chr11:46070600-46072000	Strong transcription	Primary T cells from cord blood	blood
49	chr11:46070600-46072000	Enhancers	Right Ventricle	heart
50	chr11:46070600-46072200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links