Variant report

Variant	rs7794886
Chromosome Location	chr7:96749012-96749013
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:96748725..96750557-chr7:96827125..96829431,2	K562	blood:
2	chr7:96747720..96750174-chr7:96767579..96769561,2	K562	blood:
3	chr7:96743420..96745010-chr7:96747883..96750153,2	K562	blood:
4	chr7:96748869..96751979-chr7:96758718..96762589,5	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1014341	0.84[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.84[ASN][1000 genomes]
rs10229181	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.97[TSI][hapmap];0.81[ASN][1000 genomes]
rs10231916	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10235199	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap];0.97[TSI][hapmap];0.80[YRI][hapmap];0.81[ASN][1000 genomes]
rs10246622	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10252102	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10260298	0.89[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.83[ASN][1000 genomes]
rs10275135	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10279603	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11972232	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11980904	0.82[ASN][1000 genomes]
rs1199289	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs1199290	0.84[ASN][1000 genomes]
rs1199291	0.83[ASN][1000 genomes]
rs1199292	0.84[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.80[YRI][hapmap];0.84[ASN][1000 genomes]
rs12056091	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12669915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs12670377	0.82[CHD][hapmap]
rs12671362	0.83[ASN][1000 genomes]
rs13475	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs1534370	0.84[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.95[TSI][hapmap];0.83[ASN][1000 genomes]
rs1880732	0.85[ASN][1000 genomes]
rs1917941	0.81[ASN][1000 genomes]
rs2140954	0.86[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2693313	0.96[CEU][hapmap]
rs28646010	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28825121	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4729330	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6465571	0.84[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.95[TSI][hapmap];0.83[ASN][1000 genomes]
rs6943457	0.82[ASN][1000 genomes]
rs6958059	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6961807	0.85[ASN][1000 genomes]
rs6963921	0.83[ASN][1000 genomes]
rs6973369	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.84[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73233819	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7787376	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7803945	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7810432	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.84[ASN][1000 genomes]
rs7811797	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9656043	0.80[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7794886	AP4M1	cis	cerebellum	SCAN
rs7794886	ZNF655	cis	parietal	SCAN
rs7794886	AZGP1	cis	cerebellum	SCAN
rs7794886	ACN9	cis	parietal	SCAN

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:96746800-96749800	Active TSS	GM12878-XiMat	blood
2	chr7:96746800-96751800	Active TSS	K562	blood
3	chr7:96747400-96759800	Weak transcription	Spleen	Spleen
4	chr7:96747600-96753000	Weak transcription	Small Intestine	intestine
5	chr7:96747600-96759000	Weak transcription	Esophagus	oesophagus
6	chr7:96747600-96768200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:96747800-96749200	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr7:96747800-96768200	Weak transcription	Aorta	Aorta
9	chr7:96748000-96749200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr7:96748000-96749200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr7:96748000-96749200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr7:96748000-96749200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr7:96748000-96749400	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr7:96748000-96749600	Enhancers	Fetal Heart	heart
15	chr7:96748000-96759000	Weak transcription	Left Ventricle	heart
16	chr7:96748200-96749200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr7:96748200-96749200	Enhancers	Liver	Liver
18	chr7:96748200-96749400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr7:96748200-96749600	Enhancers	Fetal Lung	lung
20	chr7:96748200-96759800	Weak transcription	Fetal Intestine Small	intestine
21	chr7:96748400-96749200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:96748400-96749200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr7:96748400-96749200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:96748400-96749200	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr7:96748400-96749200	Enhancers	Fetal Kidney	kidney
26	chr7:96748400-96749200	Enhancers	Hela-S3	cervix
27	chr7:96748400-96749400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:96748400-96749400	Enhancers	Thymus	Thymus
29	chr7:96748400-96749400	Flanking Active TSS	Dnd41	blood
30	chr7:96748400-96749600	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr7:96748400-96750600	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr7:96748400-96767200	Weak transcription	Fetal Stomach	stomach
33	chr7:96748400-96768200	Weak transcription	Right Ventricle	heart
34	chr7:96748400-96768400	Weak transcription	Psoas Muscle	Psoas
35	chr7:96748600-96749200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:96748600-96755800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:96748600-96756000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr7:96748600-96759200	Weak transcription	HMEC	breast
39	chr7:96748800-96749200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr7:96748800-96749200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr7:96748800-96749200	Enhancers	Brain Germinal Matrix	brain
42	chr7:96748800-96749400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:96749000-96749200	Enhancers	Primary hematopoietic stem cells	blood
44	chr7:96749000-96749200	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr7:96749000-96749200	Enhancers	NHEK	skin
46	chr7:96749000-96749400	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr7:96749000-96749400	Enhancers	Primary T cells from cord blood	blood
48	chr7:96749000-96749400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:96749000-96749400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:96749000-96749600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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