Variant report

Variant	rs9459695
Chromosome Location	chr6:166984801-166984802
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1543802	0.88[CHB][hapmap]
rs2032546	0.88[CHB][hapmap];0.82[ASN][1000 genomes]
rs3778402	0.88[CHB][hapmap];0.85[ASN][1000 genomes]
rs3778404	0.88[CHB][hapmap];0.82[ASN][1000 genomes]
rs3799612	0.88[CHB][hapmap];0.85[ASN][1000 genomes]
rs3799613	0.88[CHB][hapmap];0.85[ASN][1000 genomes]
rs3799630	0.88[CHB][hapmap]
rs9348148	0.82[CHB][hapmap];0.82[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	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv886941	chr6:166907173-166996991	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv5592	chr6:166958317-167002951	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1029530	chr6:166977678-167016052	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9459695	PRR18	cis	parietal	SCAN
rs9459695	PHF10	cis	cerebellum	SCAN
rs9459695	C11orf75	cis	Temporal Cortex	GTEx

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166968400-166985800	Weak transcription	Fetal Kidney	kidney
2	chr6:166970800-166986200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:166971000-166986000	Weak transcription	Pancreas	Pancrea
4	chr6:166972200-166986000	Weak transcription	Gastric	stomach
5	chr6:166973800-166986000	Weak transcription	Fetal Intestine Small	intestine
6	chr6:166974000-166989600	Weak transcription	Primary T cells from cord blood	blood
7	chr6:166974400-166992400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr6:166974800-166986000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:166976400-166988600	Weak transcription	Ovary	ovary
10	chr6:166977800-166985800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:166978600-166985800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr6:166979000-166985800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:166979400-166996600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr6:166979400-166997600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr6:166980000-166985800	Weak transcription	Brain Substantia Nigra	brain
16	chr6:166980000-166986000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr6:166980200-166986200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr6:166980400-166986000	Weak transcription	Brain Germinal Matrix	brain
19	chr6:166980600-166985800	Weak transcription	Brain Angular Gyrus	brain
20	chr6:166980800-166986200	Weak transcription	Right Atrium	heart
21	chr6:166981000-166985800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr6:166981000-166986000	Weak transcription	Brain Anterior Caudate	brain
23	chr6:166981000-166986000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr6:166981200-166992200	Weak transcription	HSMMtube	muscle
25	chr6:166981400-166985600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:166981400-166985600	Weak transcription	Osteobl	bone
27	chr6:166981400-166985800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:166981400-166986000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr6:166981400-166986000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr6:166981600-166985400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:166981600-166985800	Weak transcription	Fetal Muscle Leg	muscle
32	chr6:166981600-166985800	Weak transcription	Fetal Stomach	stomach
33	chr6:166981600-166985800	Weak transcription	NHDF-Ad	bronchial
34	chr6:166981600-166986000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:166981600-166986000	Weak transcription	Right Ventricle	heart
36	chr6:166981600-166986000	Weak transcription	HSMM	muscle
37	chr6:166981800-166985600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:166981800-166985800	Weak transcription	Adipose Nuclei	Adipose
39	chr6:166981800-167002400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr6:166982800-166985800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr6:166983000-166986200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:166983000-166986200	Enhancers	NHLF	lung
43	chr6:166983400-166986200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr6:166983800-166986000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:166983800-166986000	Weak transcription	Esophagus	oesophagus
46	chr6:166983800-166986000	Weak transcription	Lung	lung
47	chr6:166984000-166986000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr6:166984000-166986000	Weak transcription	Spleen	Spleen
49	chr6:166984400-166985200	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr6:166984400-166985200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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