Variant report

Variant	rs9913863
Chromosome Location	chr17:66768291-66768292
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:66767666..66768725-chr17:67242646..67243404,4	K562	blood:
2	chr17:66767954..66768737-chr17:67390395..67391133,3	K562	blood:
3	chr17:66767706..66768902-chr17:67231321..67232342,10	MCF-7	breast:
4	chr17:66767661..66768741-chr17:66968239..66968983,3	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1443261	1.00[CHD][hapmap]
rs17675608	0.83[EUR][1000 genomes]
rs17742923	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4246431	1.00[CHD][hapmap]
rs6501839	1.00[CHD][hapmap]
rs7211979	1.00[CHD][hapmap]
rs8068204	1.00[CHD][hapmap]
rs8080098	1.00[CHD][hapmap]
rs9890284	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9892535	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9913863	DCAF7	cis	parietal	SCAN

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66768200-66768400	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr17:66768200-66768400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
3	chr17:66768200-66768400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr17:66768200-66768400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr17:66768200-66768400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr17:66768200-66768400	Active TSS	Brain Anterior Caudate	brain
7	chr17:66768200-66768400	Active TSS	Brain Cingulate Gyrus	brain
8	chr17:66768200-66768400	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr17:66768200-66768400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr17:66768200-66768400	Active TSS	Right Atrium	heart
11	chr17:66768200-66768400	Flanking Active TSS	HepG2	liver
12	chr17:66768200-66768400	Enhancers	HSMM	muscle
13	chr17:66768200-66768400	Flanking Active TSS	HSMMtube	muscle
14	chr17:66768200-66768400	Active TSS	Monocytes-CD14+_RO01746	blood
15	chr17:66768200-66768400	Active TSS	NHDF-Ad	bronchial
16	chr17:66768200-66768400	Active TSS	NHLF	lung
17	chr17:66768200-66768600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr17:66768200-66768600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr17:66768200-66768600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr17:66768200-66768600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr17:66768200-66768600	Enhancers	Primary B cells from cord blood	blood
22	chr17:66768200-66768600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr17:66768200-66768600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr17:66768200-66768600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr17:66768200-66768600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr17:66768200-66768600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr17:66768200-66768600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr17:66768200-66768600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr17:66768200-66768600	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr17:66768200-66768600	Flanking Active TSS	Liver	Liver
31	chr17:66768200-66768600	Flanking Active TSS	Brain Angular Gyrus	brain
32	chr17:66768200-66768600	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr17:66768200-66768600	Enhancers	Duodenum Mucosa	Duodenum
34	chr17:66768200-66768600	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr17:66768200-66768600	Enhancers	Fetal Lung	lung
36	chr17:66768200-66768600	Enhancers	Fetal Stomach	stomach
37	chr17:66768200-66768600	Flanking Active TSS	Ovary	ovary
38	chr17:66768200-66768600	Active TSS	Rectal Mucosa Donor 31	rectum
39	chr17:66768200-66768600	Active TSS	Rectal Smooth Muscle	rectum
40	chr17:66768200-66768600	Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr17:66768200-66768600	Active TSS	A549	lung
42	chr17:66768200-66768600	Active TSS	Hela-S3	cervix
43	chr17:66768200-66768600	Enhancers	HMEC	breast
44	chr17:66768200-66768600	Flanking Active TSS	Osteobl	bone
45	chr17:66768200-66768800	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr17:66768200-66768800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr17:66768200-66768800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr17:66768200-66768800	Enhancers	Colon Smooth Muscle	Colon
49	chr17:66768200-66768800	Enhancers	Fetal Muscle Leg	muscle
50	chr17:66768200-66768800	Enhancers	Placenta	Placenta

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