Variant report

Variant	nsv963053
Chromosome Location	chr19:42253924-42254522
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ESR1	chr19:42253902-42254374	T-47D	breast:	n/a	n/a
2	ESR1	chr19:42253988-42254364	T-47D	breast:	n/a	n/a
3	FOXA1	chr19:42253715-42254058	HepG2	liver:	n/a	n/a
4	POLR2A	chr19:42254383-42254400	MCF-7	breast:	n/a	n/a
5	POLR2A	chr19:42254269-42254460	ProgFib	skin:	n/a	n/a
6	POLR2A	chr19:42254332-42254414	MCF-7	breast:	n/a	n/a
7	POLR2A	chr19:42254416-42254425	MCF-7	breast:	n/a	n/a
8	POLR2A	chr19:42254462-42254467	MCF-7	breast:	n/a	n/a
9	POLR2A	chr19:42252548-42254176	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42252204..42254602-chr19:42292364..42294329,2	MCF-7	breast:
2	chr19:42253269..42255875-chr19:42299289..42301420,2	MCF-7	breast:

Variant related genes	Relation type
CEACAM6	TF binding region
ENSG00000170956	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202234930	chr19:42253936-42253937	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs386809396	chr19:42254019-42254020	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs372163229	chr19:42254036-42254037	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs528621873	chr19:42254042-42254043	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs536910343	chr19:42254097-42254098	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs28733096	chr19:42254108-42254109	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs555322582	chr19:42254183-42254184	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs570388533	chr19:42254203-42254204	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs537231391	chr19:42254240-42254241	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs568593176	chr19:42254319-42254320	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs559143436	chr19:42254324-42254325	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs577261613	chr19:42254388-42254389	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs34745928	chr19:42254428-42254429	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs541521291	chr19:42254432-42254433	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs184478642	chr19:42254434-42254435	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs112832812	chr19:42254451-42254452	Enhancers Weak transcription	TF binding region 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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42251000-42254400	Weak transcription	Pancreas	Pancrea
2	chr19:42251400-42256200	Weak transcription	Esophagus	oesophagus
3	chr19:42252400-42254400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr19:42252800-42254400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr19:42253200-42254400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr19:42253200-42254600	Weak transcription	Colonic Mucosa	Colon
7	chr19:42253200-42254600	Weak transcription	Fetal Intestine Small	intestine
8	chr19:42253200-42254600	Weak transcription	Stomach Mucosa	stomach
9	chr19:42254400-42254800	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr19:42254400-42255000	Enhancers	Rectal Smooth Muscle	rectum
11	chr19:42254400-42255400	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr19:42254400-42255800	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr19:42254400-42256800	Enhancers	Pancreas	Pancrea
14	chr19:42254400-42260200	Enhancers	Primary neutrophils fromperipheralblood	blood

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