Variant report

Variant	rs4451268
Chromosome Location	chr8:11034859-11034860
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10087767	1.00[CHB][hapmap]
rs10088853	1.00[CHB][hapmap];0.83[TSI][hapmap]
rs10089518	1.00[CHB][hapmap]
rs10095003	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10100660	1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10101329	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10110684	1.00[CHB][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10503417	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10903337	1.00[CHB][hapmap]
rs11775489	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776603	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11777355	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11777887	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];0.94[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11777918	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11778121	1.00[CHB][hapmap]
rs11783045	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783890	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11785237	1.00[ASN][1000 genomes]
rs11785392	1.00[CHB][hapmap]
rs11989369	0.85[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13248014	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13248264	1.00[CHB][hapmap]
rs13248300	1.00[CHB][hapmap]
rs13249916	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13251528	1.00[CHB][hapmap]
rs13256743	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13265553	1.00[CHB][hapmap];0.86[TSI][hapmap];1.00[ASN][1000 genomes]
rs13266785	0.84[TSI][hapmap];1.00[ASN][1000 genomes]
rs13273857	1.00[CHB][hapmap]
rs13276708	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13276836	1.00[CHB][hapmap]
rs17152841	1.00[CHB][hapmap]
rs17725480	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17725534	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17726209	1.00[CHB][hapmap];0.81[TSI][hapmap];1.00[ASN][1000 genomes]
rs17779791	1.00[CHB][hapmap]
rs17782536	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17782554	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1987190	1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409691	1.00[CHB][hapmap]
rs2409692	1.00[CHB][hapmap]
rs2409693	1.00[CHB][hapmap]
rs2409695	1.00[CHB][hapmap]
rs2409719	1.00[CHB][hapmap];0.86[TSI][hapmap];1.00[ASN][1000 genomes]
rs2409720	0.92[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409725	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409726	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409729	1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409730	0.85[ASW][hapmap];0.95[CEU][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3021495	1.00[CHB][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3021497	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs3021498	1.00[ASN][1000 genomes]
rs3021501	1.00[ASN][1000 genomes]
rs34309263	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34367737	1.00[ASN][1000 genomes]
rs35211404	1.00[ASN][1000 genomes]
rs4291231	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4412337	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4618656	1.00[CHB][hapmap]
rs4642600	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4840548	1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841486	1.00[CHB][hapmap]
rs4841497	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4841499	1.00[ASN][1000 genomes]
rs4841507	0.81[TSI][hapmap]
rs6601561	1.00[CHB][hapmap]
rs6601563	1.00[CHB][hapmap]
rs67418928	1.00[ASN][1000 genomes]
rs67559300	1.00[ASN][1000 genomes]
rs71518512	1.00[ASN][1000 genomes]
rs73198943	1.00[ASN][1000 genomes]
rs7832722	1.00[CHB][hapmap]
rs7844536	0.83[AMR][1000 genomes]
rs9329238	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9657544	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv1815171	chr8:10940039-11128712	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1025426	chr8:10942929-11037903	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1026331	chr8:10955941-11046394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv519941	chr8:11016889-11039816	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4451268	C8orf13	cis	multi-tissue	Pritchard
rs4451268	TDH	cis	parietal	SCAN
rs4451268	MFHAS1	cis	cerebellum	SCAN
rs4451268	CLDN23	cis	multi-tissue	Pritchard
rs4451268	TDH	cis	cerebellum	SCAN
rs4451268	FLJ10661	cis	cerebellum	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11022600-11035000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr8:11026800-11035000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:11026800-11035200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:11026800-11035200	Weak transcription	HMEC	breast
5	chr8:11026800-11037200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:11026800-11043600	Weak transcription	Pancreas	Pancrea
7	chr8:11026800-11043800	Weak transcription	Spleen	Spleen
8	chr8:11027000-11035000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:11027200-11035000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr8:11028000-11035200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:11028000-11048200	Weak transcription	Primary B cells from cord blood	blood
12	chr8:11028200-11050200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr8:11028200-11052400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr8:11028200-11056600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr8:11028400-11035000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr8:11028400-11035200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr8:11028800-11035000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr8:11028800-11054400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:11029000-11035200	Weak transcription	GM12878-XiMat	blood
20	chr8:11029200-11035200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:11029200-11039400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:11029200-11039600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:11029400-11035600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:11029600-11056800	Weak transcription	Fetal Intestine Small	intestine
25	chr8:11031400-11054200	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr8:11032000-11053800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr8:11032400-11042800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:11033400-11039600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:11034200-11035600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:11034200-11035600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr8:11034200-11035600	Enhancers	Gastric	stomach
32	chr8:11034400-11035600	Enhancers	Lung	lung
33	chr8:11034400-11035800	Enhancers	NH-A	brain
34	chr8:11034600-11035200	Enhancers	HSMM	muscle
35	chr8:11034600-11035400	Weak transcription	Left Ventricle	heart
36	chr8:11034600-11054400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr8:11034600-11057000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr8:11034600-11057000	Weak transcription	Esophagus	oesophagus
39	chr8:11034800-11035800	Enhancers	HSMMtube	muscle
40	chr8:11034800-11036000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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