Variant report

Variant	rs6601565
Chromosome Location	chr8:11032228-11032229
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10093053	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10106207	0.81[EUR][1000 genomes]
rs10108347	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10109167	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11250121	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17783634	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2409718	0.82[EUR][1000 genomes]
rs2409722	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2409724	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2409742	0.82[AMR][1000 genomes]
rs28633434	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3021500	0.81[EUR][1000 genomes]
rs4840551	0.86[EUR][1000 genomes]
rs4841507	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6601570	0.83[AMR][1000 genomes]
rs6981523	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6986032	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7004825	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7010590	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7813802	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7819412	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]

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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6601565	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs6601565	BLK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:34 , 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	chr8:11026600-11034200	Weak transcription	Esophagus	oesophagus
3	chr8:11026800-11034600	Weak transcription	HSMM	muscle
4	chr8:11026800-11035000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:11026800-11035200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:11026800-11035200	Weak transcription	HMEC	breast
7	chr8:11026800-11037200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:11026800-11043600	Weak transcription	Pancreas	Pancrea
9	chr8:11026800-11043800	Weak transcription	Spleen	Spleen
10	chr8:11027000-11034800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:11027000-11035000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:11027200-11035000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr8:11028000-11035200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:11028000-11048200	Weak transcription	Primary B cells from cord blood	blood
15	chr8:11028200-11050200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr8:11028200-11052400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr8:11028200-11056600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr8:11028400-11035000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr8:11028400-11035200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr8:11028800-11035000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr8:11028800-11054400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:11029000-11035200	Weak transcription	GM12878-XiMat	blood
23	chr8:11029200-11035200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:11029200-11039400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:11029200-11039600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:11029400-11035600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:11029600-11056800	Weak transcription	Fetal Intestine Small	intestine
28	chr8:11030400-11034400	Weak transcription	NH-A	brain
29	chr8:11031000-11032600	Enhancers	HSMMtube	muscle
30	chr8:11031400-11034200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:11031400-11054200	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr8:11032000-11032600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr8:11032000-11053800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr8:11032200-11033400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived

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