Variant report

Variant	nsv822027
Chromosome Location	chr3:18108583-18109234
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:18100991..18103482-chr3:18105712..18109309,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534947206	chr3:18108583-18108584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs142075712	chr3:18108596-18108597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571523659	chr3:18108622-18108623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369155930	chr3:18108643-18108644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78072974	chr3:18108694-18108695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575147473	chr3:18108714-18108715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11720641	chr3:18108748-18108749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557159436	chr3:18108781-18108782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374487039	chr3:18108820-18108821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573819440	chr3:18108827-18108828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542839384	chr3:18108894-18108895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs367702469	chr3:18108896-18108897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553156806	chr3:18108969-18108970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371484371	chr3:18108971-18108972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115900373	chr3:18108986-18108987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545287997	chr3:18109000-18109001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150711470	chr3:18109012-18109013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140001271	chr3:18109015-18109016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544336805	chr3:18109016-18109017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560820064	chr3:18109027-18109028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529695978	chr3:18109031-18109032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11922099	chr3:18109110-18109111	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs540079541	chr3:18109173-18109174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529073328	chr3:18109216-18109217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:18086800-18113400	Weak transcription	Fetal Thymus	thymus
2	chr3:18102200-18127200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:18105000-18110600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr3:18105400-18112000	Weak transcription	Dnd41	blood
5	chr3:18105600-18114000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr3:18105600-18117800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr3:18106200-18109400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:18106200-18118800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr3:18106400-18110800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:18106400-18111400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:18106400-18111400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:18107600-18109600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:18107800-18109800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr3:18108000-18109400	Enhancers	HMEC	breast
15	chr3:18108000-18109600	Enhancers	NHEK	skin
16	chr3:18108200-18108600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:18108600-18111000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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