Variant report

Variant	rs10100660
Chromosome Location	chr8:11038885-11038886
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11020358..11021978-chr8:11037750..11039962,2	MCF-7	breast:

Extended variants
information (count: 82 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10087767	1.00[CHB][hapmap]
rs10088853	1.00[CHB][hapmap]
rs10089518	1.00[CHB][hapmap]
rs10095003	1.00[ASN][1000 genomes]
rs10101329	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10110684	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10503417	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10903337	1.00[CHB][hapmap]
rs11775489	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776159	1.00[CHB][hapmap]
rs11776603	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11777355	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11777887	1.00[CHB][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11777918	1.00[CHB][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11778121	1.00[CHB][hapmap]
rs11783045	1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783890	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11785237	1.00[ASN][1000 genomes]
rs11785392	1.00[CHB][hapmap]
rs11989369	1.00[CHB][hapmap];0.99[AMR][1000 genomes];0.94[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];1.00[ASN][1000 genomes]
rs13266785	1.00[ASN][1000 genomes]
rs13268130	1.00[CHB][hapmap]
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];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];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2251301	1.00[CHB][hapmap]
rs2409691	1.00[CHB][hapmap]
rs2409692	1.00[CHB][hapmap]
rs2409693	1.00[CHB][hapmap]
rs2409719	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2409720	1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409725	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409726	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409729	1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409730	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3021495	1.00[CHB][hapmap];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	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]
rs4410870	1.00[CHB][hapmap]
rs4412337	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4451268	1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4642600	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4840548	1.00[CHB][hapmap];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]
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	1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9657544	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
5	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
6	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10100660	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11026800-11043600	Weak transcription	Pancreas	Pancrea
2	chr8:11026800-11043800	Weak transcription	Spleen	Spleen
3	chr8:11028000-11048200	Weak transcription	Primary B cells from cord blood	blood
4	chr8:11028200-11050200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr8:11028200-11052400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr8:11028200-11056600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr8:11028800-11054400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:11029200-11039400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:11029200-11039600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:11029600-11056800	Weak transcription	Fetal Intestine Small	intestine
11	chr8:11031400-11054200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr8:11032000-11053800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:11032400-11042800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:11033400-11039600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:11034600-11054400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr8:11034600-11057000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:11034600-11057000	Weak transcription	Esophagus	oesophagus
18	chr8:11035400-11054600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr8:11035600-11040000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr8:11035600-11040000	Weak transcription	GM12878-XiMat	blood
21	chr8:11035600-11042200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:11035600-11042200	Weak transcription	Gastric	stomach
23	chr8:11035600-11044600	Weak transcription	NHEK	skin
24	chr8:11035600-11054000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:11035800-11039600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr8:11035800-11044600	Weak transcription	NH-A	brain
27	chr8:11035800-11044800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:11035800-11051600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr8:11035800-11056000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:11036000-11045000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:11036400-11040000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:11038200-11039400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:11038200-11042600	Weak transcription	Fetal Brain Male	brain
34	chr8:11038200-11044600	Weak transcription	HSMM	muscle
35	chr8:11038200-11045000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:11038400-11043800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:11038400-11044800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr8:11038600-11043000	Weak transcription	HSMMtube	muscle

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