Variant report

Variant	esv1011383
Chromosome Location	chr9:72542754-72556009
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:72554296..72556311-chr9:72558075..72560208,2	K562	blood:
2	chr9:72287443..72288006-chr9:72547582..72548391,2	K562	blood:
3	chr9:72552090..72553965-chr9:72554095..72555858,2	K562	blood:
4	chr9:72552090..72553965-chr9:72554095..72555858,2	K562	blood:

Variant related genes	Relation type
ENSG00000261447	chromatin interactions

Extended variants
information (count: 311 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:311 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188539253	chr9:72547589-72547590	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs148224175	chr9:72547617-72547618	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs546224037	chr9:72547625-72547626	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs112600424	chr9:72547626-72547627	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs11788737	chr9:72547631-72547632	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs141181240	chr9:72547655-72547656	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs372947321	chr9:72547673-72547674	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs557917778	chr9:72547679-72547680	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs181293161	chr9:72547680-72547681	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs150297899	chr9:72547682-72547683	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs12338191	chr9:72547704-72547705	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs12238457	chr9:72547729-72547730	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs562562093	chr9:72547730-72547731	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs185888561	chr9:72547733-72547734	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs533909280	chr9:72547756-72547757	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs555467549	chr9:72547877-72547878	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs373613033	chr9:72547883-72547884	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs189314088	chr9:72547889-72547890	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs536005398	chr9:72547912-72547913	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs557583448	chr9:72547914-72547915	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs117602907	chr9:72547961-72547962	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs546162639	chr9:72547986-72547987	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs551523558	chr9:72548069-72548070	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs7869305	chr9:72548081-72548082	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs540739191	chr9:72548148-72548149	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs561809002	chr9:72548149-72548150	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs180953081	chr9:72548173-72548174	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs371012371	chr9:72548253-72548254	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs562334957	chr9:72548299-72548300	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs533292004	chr9:72548317-72548318	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs115339596	chr9:72548334-72548335	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs566479031	chr9:72548396-72548397	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs187200665	chr9:72548397-72548398	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs12342648	chr9:72548406-72548407	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs567414409	chr9:72548418-72548419	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs537929064	chr9:72548445-72548446	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs557620081	chr9:72548479-72548480	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs191062541	chr9:72548480-72548481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs137881433	chr9:72548508-72548509	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs182991094	chr9:72548509-72548510	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs371815421	chr9:72548512-72548513	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs113868106	chr9:72548542-72548543	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs540189975	chr9:72548543-72548544	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs555340019	chr9:72548562-72548563	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs73446741	chr9:72548619-72548620	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs544284946	chr9:72548620-72548621	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs142697604	chr9:72548624-72548625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs186267838	chr9:72548628-72548629	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs545297114	chr9:72548660-72548661	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs560140729	chr9:72548670-72548671	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Intellectual disability	21811512	CNVD
Autism	21484199	CNVD
Breast cancer	22737080	CNVD
Malignant peripheral nerve sheath tumor	22811580	CNVD
Leprosy	22719964	CNVD
Primary ovarian insufficiency	22879975	CNVD
Malignant melanoma	17260012	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72548000-72549400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr9:72548200-72548800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr9:72548400-72549200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr9:72548800-72549000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr9:72548800-72549200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr9:72548800-72550800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr9:72549000-72549800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr9:72549200-72549400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr9:72549400-72551000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr9:72550800-72553000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:72551000-72551600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr9:72551000-72552800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr9:72551200-72553000	Enhancers	HMEC	breast
14	chr9:72551400-72552800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr9:72551400-72553000	Enhancers	NHDF-Ad	bronchial
16	chr9:72551400-72553600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:72551600-72552600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr9:72551800-72552000	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr9:72551800-72553600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr9:72552000-72552200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr9:72552000-72552800	Enhancers	K562	blood
22	chr9:72552000-72552800	Enhancers	Osteobl	bone
23	chr9:72552200-72552600	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr9:72552200-72553000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr9:72552600-72553000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr9:72552600-72553200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr9:72552800-72558200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr9:72553000-72553600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr9:72553000-72553800	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr9:72553200-72558400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr9:72553600-72555000	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr9:72553600-72558000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr9:72553800-72554800	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr9:72554800-72555000	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr9:72555000-72555800	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr9:72555000-72556200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr9:72555200-72555600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr9:72555800-72556200	Weak transcription	Primary monocytes fromperipheralblood	blood

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