Variant report

Variant	rs17607526
Chromosome Location	chr8:87334194-87334195
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr8:87333559-87334316	Hela-S3	cervix:	n/a	chr8:87333707-87333720

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:87329069..87335338-chr8:87352769..87359177,10	MCF-7	breast:

Variant related genes	Relation type
SLC7A13	TF binding region
ENSG00000254231	Chromatin interaction
ENSG00000123124	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10099858	0.89[CEU][hapmap]
rs10504824	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17607671	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17607762	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17682190	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs41374044	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688516	1.00[AMR][1000 genomes]
rs72688541	0.83[EUR][1000 genomes]
rs72688543	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688546	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688552	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688554	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688555	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688556	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688567	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72688569	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688571	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688572	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688578	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688580	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688583	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529563	chr8:86467090-87381984	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv429926	chr8:87161695-87429872	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1023114	chr8:87167184-87335197	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1033960	chr8:87167790-87334194	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1016050	chr8:87167790-87335197	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1023772	chr8:87177368-87334194	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1031874	chr8:87177368-87335197	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1030401	chr8:87177368-87337260	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	esv2761445	chr8:87185470-87335197	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
12	esv3360246	chr8:87200232-87419244	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv1017535	chr8:87261702-87367934	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17607526	CPNE3	cis	cerebellum	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87330800-87334800	Enhancers	Fetal Lung	lung
2	chr8:87331200-87334400	Weak transcription	Esophagus	oesophagus
3	chr8:87332200-87334200	Enhancers	Ovary	ovary
4	chr8:87332200-87334400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr8:87332200-87334800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:87332200-87334800	Enhancers	Placenta	Placenta
7	chr8:87332200-87334800	Enhancers	NHEK	skin
8	chr8:87332400-87334400	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr8:87332400-87334600	Weak transcription	Left Ventricle	heart
10	chr8:87332800-87334200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr8:87332800-87334200	Enhancers	A549	lung
12	chr8:87332800-87334600	Enhancers	HepG2	liver
13	chr8:87332800-87334800	Enhancers	Liver	Liver
14	chr8:87333200-87334800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:87333400-87334600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:87333400-87334600	Enhancers	HMEC	breast
17	chr8:87333400-87337200	Weak transcription	Brain Germinal Matrix	brain
18	chr8:87333600-87334200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr8:87333600-87334600	Enhancers	Fetal Stomach	stomach
20	chr8:87333800-87334200	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr8:87333800-87334400	Enhancers	Placenta Amnion	Placenta Amnion
22	chr8:87333800-87334400	Enhancers	Hela-S3	cervix
23	chr8:87334000-87334200	Enhancers	Primary T cells from cord blood	blood
24	chr8:87334000-87334200	Enhancers	Primary T helper cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links