Variant report

Variant	rs7048783
Chromosome Location	chr9:14883912-14883913
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10810278	0.88[CEU][hapmap]
rs10810283	1.00[CEU][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes]
rs10810285	0.82[JPT][hapmap]
rs10961769	0.91[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12237883	0.96[ASN][1000 genomes]
rs1889048	0.88[CEU][hapmap]
rs1889049	0.88[CEU][hapmap]
rs1889051	0.88[CEU][hapmap]
rs1889052	0.88[CEU][hapmap]
rs2065482	0.88[CEU][hapmap]
rs62537693	0.87[EUR][1000 genomes]
rs6474862	0.88[CEU][hapmap]
rs6474863	0.88[CEU][hapmap]
rs6474865	0.88[CEU][hapmap]
rs6474868	0.88[CEU][hapmap]
rs66838707	0.90[EUR][1000 genomes]
rs7019358	0.88[CEU][hapmap]
rs7020282	0.88[CEU][hapmap]
rs7021013	0.89[EUR][1000 genomes]
rs7049012	0.90[EUR][1000 genomes]
rs7862066	0.88[CEU][hapmap]
rs7867761	0.88[CEU][hapmap]
rs8181160	0.89[EUR][1000 genomes]
rs9776139	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv915804	chr9:14182608-14903050	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv613637	chr9:14524438-15011915	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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	nsv831518	chr9:14760638-14953501	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv892617	chr9:14791348-14889834	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1018416	chr9:14846753-14921247	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv613647	chr9:14852141-15016475	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3390567	chr9:14852461-14891880	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14877200-14889400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr9:14877800-14888400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr9:14878600-14888200	Weak transcription	Fetal Kidney	kidney
4	chr9:14880600-14884200	Enhancers	HepG2	liver
5	chr9:14881200-14889200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr9:14881200-14904600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr9:14881400-14889000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr9:14881400-14889400	Weak transcription	Fetal Muscle Leg	muscle
9	chr9:14882000-14884200	Weak transcription	Small Intestine	intestine
10	chr9:14882000-14886000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr9:14882000-14886600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr9:14882000-14887800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr9:14882000-14899000	Weak transcription	Pancreas	Pancrea
14	chr9:14882000-14902400	Weak transcription	Fetal Stomach	stomach
15	chr9:14882200-14886600	Weak transcription	Fetal Intestine Small	intestine
16	chr9:14882800-14886600	Weak transcription	Fetal Intestine Large	intestine
17	chr9:14883200-14884000	Enhancers	Colon Smooth Muscle	Colon
18	chr9:14883400-14884000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:14883600-14884000	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr9:14883600-14884400	Enhancers	Aorta	Aorta
21	chr9:14883800-14884200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr9:14883800-14884200	Enhancers	Fetal Muscle Trunk	muscle
23	chr9:14883800-14888200	Weak transcription	Fetal Lung	lung

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