Variant report

Variant	nsv978821
Chromosome Location	chr19:42231153-42231653
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:42212576..42214657-chr19:42230073..42232735,2	MCF-7	breast:
2	chr19:42212393..42215369-chr19:42228630..42231266,2	MCF-7	breast:
3	chr19:42229256..42231209-chr19:42253905..42256150,2	K562	blood:

Variant related genes	Relation type
ENSG00000086548	chromatin interactions
ENSG00000105388	chromatin interactions
ENSG00000267881	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9621	chr19:42231159-42231160	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs201356826	chr19:42231193-42231194	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs368131026	chr19:42231195-42231196	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs145145493	chr19:42231206-42231207	Genic enhancers Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs371856330	chr19:42231212-42231213	Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs202005812	chr19:42231222-42231223	Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs200460609	chr19:42231224-42231225	Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs200766773	chr19:42231227-42231228	Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs199620065	chr19:42231243-42231244	Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs181130478	chr19:42231247-42231248	Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs185229336	chr19:42231256-42231257	Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs368616491	chr19:42231262-42231263	Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs375863545	chr19:42231275-42231276	Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs189160348	chr19:42231283-42231284	Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs544333947	chr19:42231289-42231290	Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs369194625	chr19:42231336-42231337	Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs2002926	chr19:42231341-42231342	Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs545240074	chr19:42231478-42231479	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs142617566	chr19:42231527-42231528	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs527456766	chr19:42231558-42231559	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs115771332	chr19:42231580-42231581	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42217800-42231200	Weak transcription	Fetal Intestine Small	intestine
2	chr19:42230000-42232000	Strong transcription	Rectal Mucosa Donor 29	rectum
3	chr19:42230200-42233600	Genic enhancers	Rectal Mucosa Donor 31	rectum
4	chr19:42230400-42231400	Genic enhancers	Colonic Mucosa	Colon
5	chr19:42230400-42232000	Strong transcription	Sigmoid Colon	Sigmoid Colon
6	chr19:42230600-42233400	Enhancers	Stomach Mucosa	stomach
7	chr19:42231200-42231600	Enhancers	Fetal Intestine Small	intestine
8	chr19:42231400-42237800	Weak transcription	Colonic Mucosa	Colon
9	chr19:42231600-42236400	Weak transcription	Fetal Intestine Small	intestine

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