Variant report

Variant	rs60765045
Chromosome Location	chr9:17367109-17367110
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs56938637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57086350	0.85[AFR][1000 genomes]
rs61491193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61735057	0.85[AFR][1000 genomes]
rs7026936	0.85[AFR][1000 genomes]
rs7041284	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7048748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7847197	0.85[AFR][1000 genomes]
rs7854919	0.85[AFR][1000 genomes]
rs7862223	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7862450	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1024799	chr9:16631890-17431827	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv892658	chr9:17041557-17532840	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv892661	chr9:17134245-17532840	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv613693	chr9:17147191-17710407	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv471287	chr9:17165698-17708814	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv466269	chr9:17165698-17710407	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv466270	chr9:17236376-17377629	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv613694	chr9:17236376-17377629	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv892665	chr9:17250170-17371690	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv466271	chr9:17329964-17438391	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv613696	chr9:17329964-17438391	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1015524	chr9:17350843-17419424	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17292200-17367200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:17332400-17367600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr9:17332800-17367400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr9:17336800-17367200	Weak transcription	Fetal Intestine Small	intestine
5	chr9:17338800-17371800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr9:17339400-17367200	Weak transcription	Gastric	stomach
7	chr9:17341200-17367600	Weak transcription	Spleen	Spleen
8	chr9:17341400-17369600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr9:17344400-17368800	Weak transcription	A549	lung
10	chr9:17346600-17367200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr9:17346600-17367200	Weak transcription	Fetal Muscle Leg	muscle
12	chr9:17350600-17367600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr9:17354800-17368000	Weak transcription	Fetal Intestine Large	intestine
14	chr9:17355600-17372200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr9:17357000-17367200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr9:17361800-17367200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr9:17362000-17369400	Weak transcription	Fetal Kidney	kidney
18	chr9:17362000-17372600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr9:17362000-17394600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr9:17363400-17367600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr9:17364000-17368600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr9:17364200-17368800	Weak transcription	Brain Substantia Nigra	brain
23	chr9:17364600-17369000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr9:17364600-17376800	Weak transcription	Hela-S3	cervix
25	chr9:17365000-17369400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr9:17365000-17370000	Strong transcription	Fetal Stomach	stomach
27	chr9:17365000-17373600	Weak transcription	HSMM	muscle
28	chr9:17365200-17367600	Weak transcription	Brain Anterior Caudate	brain
29	chr9:17365400-17367400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr9:17365400-17368600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr9:17365600-17369200	Strong transcription	Left Ventricle	heart
32	chr9:17365600-17370000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr9:17365600-17370200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr9:17365800-17367800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr9:17366000-17368400	Weak transcription	Brain Hippocampus Middle	brain
36	chr9:17366000-17369000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr9:17366200-17369000	Weak transcription	NHLF	lung
38	chr9:17366400-17368000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr9:17366800-17367800	Strong transcription	Pancreas	Pancrea
40	chr9:17366800-17368400	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr9:17366800-17368600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
42	chr9:17366800-17370000	Strong transcription	Ovary	ovary
43	chr9:17367000-17367200	Genic enhancers	Liver	Liver
44	chr9:17367000-17367600	ZNF genes & repeats	HepG2	liver
45	chr9:17367000-17368000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr9:17367000-17368200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr9:17367000-17368400	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr9:17367000-17368400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr9:17367000-17368400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr9:17367000-17368600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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