Variant report

Variant	rs9297608
Chromosome Location	chr8:120969685-120969686
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10105766	0.84[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10955945	0.84[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs1106481	0.91[CHB][hapmap];0.85[CHD][hapmap];0.81[JPT][hapmap]
rs1106482	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs1914992	0.82[CHB][hapmap]
rs2102905	0.87[LWK][hapmap];0.89[MEX][hapmap];0.80[YRI][hapmap];0.83[AMR][1000 genomes]
rs2875930	0.84[CEU][hapmap];0.83[CHD][hapmap];0.81[JPT][hapmap]
rs3930200	0.84[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs4871028	0.84[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs7823697	0.99[ASN][1000 genomes]
rs908945	0.84[CEU][hapmap];0.91[CHB][hapmap];0.85[CHD][hapmap];0.81[JPT][hapmap]
rs908946	0.84[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][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	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9297608	DVL3	trans	parietal	SCAN
rs9297608	NOV	cis	parietal	SCAN

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120945200-120977400	Weak transcription	Fetal Kidney	kidney
2	chr8:120954600-120970400	Weak transcription	Fetal Stomach	stomach
3	chr8:120959800-120977400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr8:120964000-120977400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:120964200-120977400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:120964200-120977600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:120965000-120977400	Weak transcription	Pancreas	Pancrea
8	chr8:120967200-120970400	Weak transcription	Ovary	ovary
9	chr8:120968400-120969800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:120968600-120969800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr8:120968600-120971200	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr8:120968800-120970400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:120968800-120970400	Weak transcription	Fetal Intestine Small	intestine
14	chr8:120968800-120970400	Weak transcription	Gastric	stomach
15	chr8:120968800-120970400	Weak transcription	Lung	lung
16	chr8:120968800-120973400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr8:120968800-120974600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr8:120968800-120977400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:120968800-120977400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:120968800-120977400	Weak transcription	Colon Smooth Muscle	Colon
21	chr8:120968800-120977600	Weak transcription	Spleen	Spleen
22	chr8:120968800-120981800	Weak transcription	Stomach Mucosa	stomach
23	chr8:120968800-120987800	Weak transcription	Placenta	Placenta
24	chr8:120968800-120988800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr8:120969000-120969800	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr8:120969000-120977200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr8:120969000-120977400	Weak transcription	Adipose Nuclei	Adipose
28	chr8:120969000-120977400	Weak transcription	Liver	Liver
29	chr8:120969000-120977400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr8:120969000-120977400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr8:120969200-120970800	Enhancers	Psoas Muscle	Psoas
32	chr8:120969200-120975800	Weak transcription	Fetal Muscle Leg	muscle
33	chr8:120969200-120977200	Weak transcription	Fetal Intestine Large	intestine
34	chr8:120969200-120977400	Weak transcription	Primary T cells from cord blood	blood
35	chr8:120969400-120973800	Weak transcription	Brain Hippocampus Middle	brain
36	chr8:120969400-120974600	Weak transcription	Brain Anterior Caudate	brain
37	chr8:120969400-120974600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr8:120969400-120974600	Weak transcription	Brain Substantia Nigra	brain
39	chr8:120969400-120976000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr8:120969400-120977400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr8:120969400-120977400	Weak transcription	Left Ventricle	heart
42	chr8:120969400-120977400	Weak transcription	Right Ventricle	heart
43	chr8:120969600-120974400	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr8:120969600-120976800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:120969600-120977400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr8:120969600-120977400	Weak transcription	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links