Variant report

Variant	rs13255959
Chromosome Location	chr8:119012781-119012782
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	chr8:119010926..119015878-chr8:119016577..119020260,4	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11562735	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11562770	1.00[CEU][hapmap];1.00[GIH][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11775987	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13260360	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13267449	0.93[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17431131	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4876779	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4876785	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6986291	0.96[CEU][hapmap];0.93[GIH][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7006696	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7830231	0.93[ASW][hapmap];1.00[CEU][hapmap];0.93[GIH][hapmap];0.88[MEX][hapmap];0.89[MKK][hapmap];0.98[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9297573	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9643119	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9650072	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

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	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1025002	chr8:118970940-119069418	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13255959	DSCC1	cis	cerebellum	SCAN

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118994000-119031000	Weak transcription	Primary T cells from cord blood	blood
2	chr8:119001200-119023000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:119001600-119021200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr8:119003600-119013200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:119005000-119016400	Weak transcription	Left Ventricle	heart
6	chr8:119005000-119016400	Weak transcription	Right Atrium	heart
7	chr8:119005000-119017200	Weak transcription	Right Ventricle	heart
8	chr8:119005000-119021200	Weak transcription	Gastric	stomach
9	chr8:119005800-119012800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr8:119007600-119013600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr8:119007800-119016400	Weak transcription	Psoas Muscle	Psoas
12	chr8:119008400-119016400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:119009800-119014200	Enhancers	NHDF-Ad	bronchial
14	chr8:119010000-119013600	Enhancers	NHLF	lung
15	chr8:119010000-119014200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:119010000-119014200	Enhancers	NH-A	brain
17	chr8:119010000-119014400	Enhancers	Osteobl	bone
18	chr8:119010600-119013000	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr8:119010600-119013200	Flanking Active TSS	GM12878-XiMat	blood
20	chr8:119010800-119013000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:119010800-119013000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr8:119010800-119013200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr8:119011000-119013600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:119011000-119014200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:119011200-119012800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:119011200-119013200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:119011200-119013800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr8:119011200-119016400	Weak transcription	HSMM	muscle
29	chr8:119011400-119014200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:119011600-119013000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr8:119011600-119013600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:119011800-119013200	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr8:119011800-119013400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:119011800-119013600	Enhancers	Fetal Intestine Small	intestine
35	chr8:119011800-119016200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:119012000-119012800	Weak transcription	Small Intestine	intestine
37	chr8:119012000-119016600	Weak transcription	Aorta	Aorta
38	chr8:119012200-119013400	Enhancers	Fetal Intestine Large	intestine
39	chr8:119012200-119013600	Flanking Active TSS	A549	lung
40	chr8:119012400-119012800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr8:119012400-119013000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:119012400-119013000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr8:119012400-119013000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:119012400-119013000	Enhancers	Fetal Kidney	kidney
45	chr8:119012400-119013000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
46	chr8:119012400-119013000	Active TSS	Rectal Smooth Muscle	rectum
47	chr8:119012400-119013000	Enhancers	Stomach Smooth Muscle	stomach
48	chr8:119012400-119013200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr8:119012400-119013200	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr8:119012400-119013200	Flanking Active TSS	Fetal Lung	lung

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