Variant report

Variant	rs71506879
Chromosome Location	chr9:18607169-18607170
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11787618	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11789724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11789831	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11790127	0.83[AMR][1000 genomes]
rs11793203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11793774	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11794157	1.00[AFR][1000 genomes]
rs13293473	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13301913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34097794	0.86[AMR][1000 genomes]
rs34157511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34328687	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34630583	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35060497	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35418018	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35601420	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35629404	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35664109	0.86[AMR][1000 genomes]
rs35932920	1.00[AFR][1000 genomes]
rs36077277	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs66470044	0.83[AMR][1000 genomes]
rs71506878	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71506881	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491807	chr9:18243672-19009770	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv525659	chr9:18288212-19009041	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1019127	chr9:18288271-18996288	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1029449	chr9:18414752-18829127	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS 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 miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv540077	chr9:18414752-18829127	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv1030931	chr9:18414752-18903530	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv428536	chr9:18512807-18667760	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
8	nsv892691	chr9:18519699-18805483	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv892692	chr9:18519699-19045502	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv6496	chr9:18586934-18609801	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
11	nsv831523	chr9:18592398-18753451	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
12	nsv892694	chr9:18599029-18767830	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18604600-18607200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr9:18604600-18607200	Enhancers	Brain Germinal Matrix	brain
3	chr9:18604600-18607200	Enhancers	Fetal Stomach	stomach
4	chr9:18604600-18607400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr9:18604600-18607400	Enhancers	H1 Cell Line	embryonic stem cell
6	chr9:18604600-18607400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr9:18604600-18607400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr9:18604600-18607400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr9:18604800-18607200	Enhancers	H9 Cell Line	embryonic stem cell
10	chr9:18604800-18607200	Enhancers	Brain Anterior Caudate	brain
11	chr9:18604800-18607200	Enhancers	NHDF-Ad	bronchial
12	chr9:18605000-18607200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr9:18605000-18607400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr9:18605000-18607400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr9:18605200-18607200	Enhancers	Adipose Nuclei	Adipose
16	chr9:18605800-18607200	Enhancers	Fetal Lung	lung
17	chr9:18605800-18607400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr9:18605800-18607400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr9:18605800-18607400	Enhancers	HSMM	muscle
20	chr9:18605800-18607400	Enhancers	HSMMtube	muscle
21	chr9:18606000-18611200	Weak transcription	Fetal Brain Female	brain
22	chr9:18606000-18611800	Weak transcription	Fetal Brain Male	brain
23	chr9:18606200-18607400	Enhancers	Colon Smooth Muscle	Colon
24	chr9:18606200-18608000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr9:18606200-18611000	Weak transcription	Fetal Heart	heart
26	chr9:18606200-18624400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr9:18606400-18607200	Enhancers	Aorta	Aorta
28	chr9:18606400-18607200	Enhancers	Fetal Kidney	kidney
29	chr9:18606400-18607400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr9:18606400-18607400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:18606600-18607200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr9:18606600-18632200	Weak transcription	NHLF	lung
33	chr9:18606800-18607200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr9:18606800-18607400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr9:18606800-18608400	Weak transcription	NH-A	brain
36	chr9:18606800-18610600	Weak transcription	Brain Angular Gyrus	brain
37	chr9:18606800-18611200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr9:18607000-18607400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr9:18607000-18607400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr9:18607000-18607400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr9:18607000-18607400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr9:18607000-18607400	Enhancers	Muscle Satellite Cultured Cells	--
43	chr9:18607000-18607400	Genic enhancers	Osteobl	bone
44	chr9:18607000-18608000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr9:18607000-18608400	Weak transcription	Brain Substantia Nigra	brain
46	chr9:18607000-18608600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr9:18607000-18610600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr9:18607000-18611000	Weak transcription	Fetal Muscle Leg	muscle
49	chr9:18607000-18611200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr9:18607000-18614000	Weak transcription	Right Atrium	heart

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