Variant report

Variant	rs7929294
Chromosome Location	chr11:46776176-46776177
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:46776002-46776683	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46774947..46777617-chr11:46782047..46783769,2	K562	blood:
2	chr11:46775438..46777025-chr11:46785365..46787825,2	K562	blood:

Variant related genes	Relation type
MIR5582	TF binding region
CKAP5	TF binding region
ENSG00000175216	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1007738	0.83[ASW][hapmap];0.85[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.96[LWK][hapmap];0.87[MEX][hapmap];0.95[MKK][hapmap];0.96[TSI][hapmap];0.95[YRI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10734548	0.94[ASW][hapmap];0.85[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.93[LWK][hapmap];0.91[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10734549	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10742784	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10769205	0.86[GIH][hapmap]
rs10769208	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10769211	0.89[ASW][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.93[LWK][hapmap];0.91[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10769212	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10838612	0.91[JPT][hapmap]
rs10838620	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10838624	0.84[ASN][1000 genomes]
rs10838629	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10838635	0.85[GIH][hapmap];0.92[TSI][hapmap]
rs11038977	0.87[CHB][hapmap];0.90[CHD][hapmap];0.91[JPT][hapmap]
rs11038994	0.90[ASN][1000 genomes]
rs11038999	0.88[ASN][1000 genomes]
rs11039002	0.95[CHB][hapmap];0.97[CHD][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs11039014	0.95[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11600292	0.84[GIH][hapmap];0.92[TSI][hapmap]
rs11602036	0.95[ASN][1000 genomes]
rs11604876	0.82[ASN][1000 genomes]
rs12361673	0.86[GIH][hapmap]
rs12574512	0.81[ASN][1000 genomes]
rs12575609	0.92[ASN][1000 genomes]
rs12806577	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13448	0.84[GIH][hapmap]
rs1551744	0.83[ASW][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.85[JPT][hapmap];0.96[LWK][hapmap];0.91[MEX][hapmap];0.97[MKK][hapmap];0.96[TSI][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1809293	0.84[ASN][1000 genomes]
rs2070850	0.83[CHB][hapmap]
rs2070852	0.86[GIH][hapmap];0.82[MEX][hapmap]
rs2290883	0.84[ASN][1000 genomes]
rs2290884	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2306026	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2306027	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2306028	0.95[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs2306033	0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs2306036	1.00[CHD][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap]
rs2306037	0.91[JPT][hapmap]
rs3136441	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs3136447	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs3136457	0.83[CHB][hapmap];0.89[JPT][hapmap]
rs3136460	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs3816614	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3829940	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4075619	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4076557	0.91[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap]
rs4294527	0.84[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4453193	0.98[ASN][1000 genomes]
rs4453194	0.94[ASN][1000 genomes]
rs4469848	0.90[ASN][1000 genomes]
rs4534535	0.98[ASN][1000 genomes]
rs4581406	0.85[GIH][hapmap];0.92[TSI][hapmap]
rs4606447	0.84[GIH][hapmap]
rs4752927	0.91[JPT][hapmap]
rs4752932	0.95[CHB][hapmap];0.97[CHD][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs4752933	0.95[CHB][hapmap];0.97[CHD][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs4752936	0.90[ASN][1000 genomes]
rs4752940	0.88[ASN][1000 genomes]
rs4752941	0.86[ASN][1000 genomes]
rs4752946	0.95[CHB][hapmap];0.97[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs4752947	0.95[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs57704144	0.80[ASN][1000 genomes]
rs5896	0.87[CHB][hapmap];0.90[CHD][hapmap];0.91[JPT][hapmap]
rs60258676	0.84[ASN][1000 genomes]
rs6485692	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6485695	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6485696	0.91[GIH][hapmap]
rs6485702	0.94[GIH][hapmap]
rs6485715	0.85[GIH][hapmap];0.92[TSI][hapmap]
rs7101374	0.85[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.96[LWK][hapmap];0.87[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7107778	0.84[ASW][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.93[LWK][hapmap];0.91[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7109707	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7118170	0.81[EUR][1000 genomes]
rs7480140	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7480260	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7934421	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7938169	0.85[GIH][hapmap];0.92[TSI][hapmap]
rs7940441	0.83[CHD][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap];0.96[TSI][hapmap]
rs7940578	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7940682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7941252	0.81[EUR][1000 genomes]
rs7941894	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7941964	0.94[ASN][1000 genomes]
rs7943866	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7945558	0.83[GIH][hapmap];0.92[TSI][hapmap]
rs964551	0.89[ASW][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.93[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][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	nsv430382	chr11:46743135-46849360	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv3388509	chr11:46763105-46818814	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7929294	ACP2	cis	lymphoblastoid	seeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46753000-46786600	Weak transcription	Right Atrium	heart
2	chr11:46760200-46786800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr11:46760200-46794800	Strong transcription	A549	lung
4	chr11:46760400-46777400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr11:46760400-46781400	Weak transcription	Stomach Mucosa	stomach
6	chr11:46760400-46795600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:46760600-46785800	Strong transcription	Fetal Stomach	stomach
8	chr11:46760600-46793800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:46761200-46787000	Strong transcription	Fetal Muscle Trunk	muscle
10	chr11:46761200-46787600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:46761400-46786600	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr11:46761400-46795800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr11:46761400-46840000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:46761400-46845200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:46761600-46776200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:46761600-46787000	Strong transcription	Fetal Intestine Large	intestine
17	chr11:46761600-46824600	Strong transcription	Fetal Thymus	thymus
18	chr11:46762200-46776200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:46762400-46787000	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr11:46762400-46794200	Strong transcription	Adipose Nuclei	Adipose
21	chr11:46762600-46776600	Strong transcription	Brain Germinal Matrix	brain
22	chr11:46762600-46778600	Strong transcription	HSMM	muscle
23	chr11:46762600-46785600	Strong transcription	Thymus	Thymus
24	chr11:46762600-46786400	Strong transcription	Fetal Brain Female	brain
25	chr11:46762600-46786600	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr11:46762600-46786800	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:46762600-46786800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr11:46762600-46787000	Strong transcription	Fetal Muscle Leg	muscle
29	chr11:46762600-46793200	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr11:46762600-46794800	Strong transcription	Placenta	Placenta
31	chr11:46762600-46795200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:46762600-46795200	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr11:46762600-46795800	Strong transcription	Dnd41	blood
34	chr11:46762600-46804000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:46762600-46826000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:46762600-46841400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:46762800-46776600	Strong transcription	Left Ventricle	heart
38	chr11:46762800-46776600	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr11:46762800-46777200	Strong transcription	Lung	lung
40	chr11:46762800-46778400	Strong transcription	Primary B cells from cord blood	blood
41	chr11:46762800-46786000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:46762800-46786000	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr11:46762800-46786000	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr11:46762800-46786200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr11:46762800-46786800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr11:46762800-46786800	Strong transcription	Fetal Lung	lung
47	chr11:46762800-46787000	Strong transcription	H9 Cell Line	embryonic stem cell
48	chr11:46762800-46792600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr11:46762800-46794200	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr11:46762800-46794400	Strong transcription	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links