Variant report

Variant	rs7866317
Chromosome Location	chr9:16532764-16532765
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10756759	0.80[CEU][hapmap]
rs10962472	0.80[CEU][hapmap]
rs12346420	0.80[CEU][hapmap]
rs2891071	0.86[CHD][hapmap];0.81[JPT][hapmap]
rs4961722	0.85[MKK][hapmap];0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530933	chr9:16251206-16830845	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv530934	chr9:16281246-16779432	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1032856	chr9:16465330-16773471	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv540073	chr9:16465330-16773471	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1028923	chr9:16519711-16547863	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7866317	ACER2	cis	cerebellum	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16520200-16535400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:16522800-16540800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr9:16523000-16535400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr9:16525000-16551400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr9:16525800-16532800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr9:16527000-16533200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr9:16528000-16535600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:16528000-16553200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr9:16528800-16551200	Weak transcription	Fetal Intestine Large	intestine
10	chr9:16530200-16533400	Enhancers	NHEK	skin
11	chr9:16530400-16533000	Enhancers	HMEC	breast
12	chr9:16530600-16533200	Enhancers	A549	lung
13	chr9:16530600-16533600	Enhancers	Osteobl	bone
14	chr9:16530800-16533800	Enhancers	NHLF	lung
15	chr9:16531400-16533400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr9:16531400-16535400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr9:16531400-16535600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr9:16531400-16535600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr9:16531400-16540800	Weak transcription	Psoas Muscle	Psoas
20	chr9:16531400-16541200	Weak transcription	Fetal Lung	lung
21	chr9:16531400-16551200	Weak transcription	Fetal Stomach	stomach
22	chr9:16531600-16533400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr9:16531600-16540800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr9:16532000-16533400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr9:16532200-16533400	Enhancers	NHDF-Ad	bronchial
26	chr9:16532200-16534000	Enhancers	HUVEC	blood vessel
27	chr9:16532200-16537400	Enhancers	Colon Smooth Muscle	Colon
28	chr9:16532400-16533000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr9:16532400-16533000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr9:16532400-16533000	Enhancers	Ovary	ovary
31	chr9:16532400-16533200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr9:16532400-16533200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr9:16532400-16533200	Enhancers	HSMMtube	muscle
34	chr9:16532400-16533200	Enhancers	NH-A	brain
35	chr9:16532400-16533600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr9:16532400-16534000	Enhancers	Rectal Smooth Muscle	rectum
37	chr9:16532400-16534400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr9:16532600-16533000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr9:16532600-16533000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr9:16532600-16533000	Weak transcription	HSMM	muscle
41	chr9:16532600-16533200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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