Variant report

Variant	rs919133
Chromosome Location	chr4:100777957-100777958
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:100777426..100780201-chr4:100868427..100870605,2	K562	blood:
2	chr4:100777569..100779939-chr4:100780512..100782819,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10026048	0.91[ASN][1000 genomes]
rs11097676	0.82[CHD][hapmap];0.95[JPT][hapmap]
rs11097677	0.95[JPT][hapmap]
rs11732776	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11935024	0.88[ASN][1000 genomes]
rs11935399	0.86[ASN][1000 genomes]
rs11939538	0.82[LWK][hapmap]
rs1365491	0.82[CHD][hapmap];0.95[JPT][hapmap]
rs1365492	0.89[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1365495	0.91[JPT][hapmap]
rs17029563	0.95[JPT][hapmap]
rs17029583	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17029662	0.82[LWK][hapmap]
rs1863608	0.90[JPT][hapmap]
rs1896166	0.83[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1961323	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1972698	0.95[JPT][hapmap]
rs2098937	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2114442	0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2162386	0.81[CEU][hapmap]
rs2282588	0.91[JPT][hapmap]
rs2298735	0.91[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.82[MEX][hapmap];0.88[MKK][hapmap];0.92[ASN][1000 genomes]
rs28404345	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2866174	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2866180	0.88[ASN][1000 genomes]
rs28679452	0.86[ASN][1000 genomes]
rs28706589	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs3756087	0.86[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs3775499	0.81[CEU][hapmap];0.82[CHD][hapmap];0.95[JPT][hapmap]
rs3775500	0.82[CHD][hapmap];0.95[JPT][hapmap]
rs3775501	0.82[CHD][hapmap];0.95[JPT][hapmap]
rs3775511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3822103	0.81[CEU][hapmap]
rs4699764	0.86[JPT][hapmap]
rs4699765	0.90[JPT][hapmap]
rs60978748	0.90[ASN][1000 genomes]
rs6532833	0.82[CHD][hapmap];0.95[JPT][hapmap]
rs6532835	0.95[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6532836	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6811559	0.88[ASN][1000 genomes]
rs6814895	0.95[JPT][hapmap]
rs6848337	0.89[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6849599	1.00[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];0.92[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6854536	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs715239	0.91[JPT][hapmap]
rs7675947	0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7676564	0.88[ASW][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7684872	0.91[CHB][hapmap];0.92[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7686428	0.83[ASW][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7689566	0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7692416	0.86[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.88[ASN][1000 genomes]
rs919132	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];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9307242	0.88[ASN][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs919133	ADH1B	cis	cerebellum	SCAN
rs919133	DAPP1	Cis_1M	lymphoblastoid	RTeQTL
rs919133	MAPKSP1	cis	parietal	SCAN
rs919133	NFKB1	cis	cerebellum	SCAN
rs919133	DNAJB14	cis	parietal	SCAN

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100761000-100801200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:100768400-100799000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr4:100775600-100778000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:100775600-100778000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr4:100775600-100778600	Genic enhancers	Primary B cells from peripheral blood	blood
6	chr4:100775800-100780800	Weak transcription	Esophagus	oesophagus
7	chr4:100776200-100778600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr4:100776600-100778200	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr4:100776800-100778000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr4:100776800-100778000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr4:100776800-100778000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr4:100776800-100778000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:100776800-100778000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr4:100776800-100778000	Genic enhancers	HMEC	breast
15	chr4:100776800-100778400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr4:100776800-100778800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:100776800-100779400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:100777000-100778000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:100777000-100778400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:100777000-100778600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr4:100777000-100778600	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
22	chr4:100777000-100782600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr4:100777200-100778000	Strong transcription	Primary T cells from cord blood	blood
24	chr4:100777200-100778000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:100777200-100778600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr4:100777400-100778000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr4:100777400-100778000	Enhancers	K562	blood
28	chr4:100777400-100778400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:100777400-100778600	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr4:100777600-100778000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr4:100777600-100778000	Enhancers	H1 Cell Line	embryonic stem cell
32	chr4:100777600-100778000	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr4:100777600-100778000	Enhancers	Duodenum Mucosa	Duodenum
34	chr4:100777600-100778200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:100777600-100778200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr4:100777600-100778200	Enhancers	Placenta	Placenta
37	chr4:100777600-100778400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:100777600-100778400	Enhancers	Adipose Nuclei	Adipose
39	chr4:100777600-100778800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr4:100777600-100779400	Enhancers	Fetal Lung	lung
41	chr4:100777600-100780800	Weak transcription	Spleen	Spleen
42	chr4:100777600-100787400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr4:100777600-100800800	Weak transcription	Thymus	Thymus
44	chr4:100777800-100778000	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr4:100777800-100778000	Enhancers	Brain Cingulate Gyrus	brain
46	chr4:100777800-100778400	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr4:100777800-100779400	Strong transcription	NHEK	skin
48	chr4:100777800-100780000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr4:100777800-100780400	Weak transcription	GM12878-XiMat	blood
50	chr4:100777800-100780800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links