Variant report

Variant	esv3414516
Chromosome Location	chr2:100866026-100866243
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NMS-1	chr2:100865526-100867946	XLOC_001589

Variant related genes	Relation type
RELA	miRNA target sites

Extended variants
information (count: 6 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6748892	chr2:100866045-100866046	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs181961091	chr2:100866051-100866052	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs149144065	chr2:100866099-100866100	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs570323771	chr2:100866130-100866131	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs575138782	chr2:100866216-100866217	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs116046143	chr2:100866231-100866232	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100858400-100867800	Enhancers	Primary B cells from cord blood	blood
2	chr2:100859800-100869600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:100863200-100868000	Enhancers	Primary B cells from peripheral blood	blood
4	chr2:100864000-100869600	Weak transcription	Fetal Brain Female	brain
5	chr2:100864200-100879800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:100864400-100866600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:100865800-100866200	Enhancers	Dnd41	blood
8	chr2:100865800-100866600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:100865800-100866800	Enhancers	Fetal Thymus	thymus
10	chr2:100865800-100879800	Weak transcription	Right Atrium	heart
11	chr2:100866000-100866400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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