Variant report

Variant	esv3327820
Chromosome Location	chr19:39065215-39065681
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:39057111..39061451-chr19:39064500..39066848,3	K562	blood:
2	chr19:39055042..39060020-chr19:39060892..39066103,5	MCF-7	breast:
3	chr19:39038810..39041650-chr19:39063092..39065838,2	K562	blood:

Variant related genes	Relation type
ENSG00000196218	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573929659	chr19:39065248-39065249	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs543697889	chr19:39065279-39065280	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs544297731	chr19:39065344-39065345	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs562980307	chr19:39065400-39065401	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs530405040	chr19:39065417-39065418	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs57231127	chr19:39065435-39065436	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs530696025	chr19:39065455-39065456	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs552102444	chr19:39065481-39065482	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs145402660	chr19:39065494-39065495	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs532015665	chr19:39065523-39065524	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs149151003	chr19:39065544-39065545	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs10853716	chr19:39065548-39065549	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs10853717	chr19:39065588-39065589	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs190710885	chr19:39065644-39065645	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs190401971	chr19:39065675-39065676	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs35261562	chr19:39065680-39065681	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs76052055	chr19:39065681-39065682	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Pleomorphic liposarcoma	18784837	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
Disorders of sex development	21048976	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
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Lung cancer	21569311	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	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

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38985200-39081800	Weak transcription	Psoas Muscle	Psoas
2	chr19:39035200-39066400	Strong transcription	Skeletal Muscle Male	skeletal muscle
3	chr19:39036000-39076400	Weak transcription	Brain Substantia Nigra	brain
4	chr19:39051600-39066400	Strong transcription	Skeletal Muscle Female	skeletal muscle
5	chr19:39053200-39077800	Weak transcription	Brain Hippocampus Middle	brain
6	chr19:39053200-39086800	Weak transcription	Brain Angular Gyrus	brain
7	chr19:39053200-39086800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr19:39053400-39075400	Weak transcription	Brain Anterior Caudate	brain
9	chr19:39056400-39086400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr19:39056600-39066400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr19:39056600-39066400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:39056600-39070400	Weak transcription	Esophagus	oesophagus
13	chr19:39056800-39068400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr19:39056800-39075400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr19:39056800-39077800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr19:39057200-39085200	Strong transcription	Fetal Muscle Leg	muscle
17	chr19:39057400-39076800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr19:39057800-39076600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr19:39058000-39067400	Strong transcription	Fetal Muscle Trunk	muscle
20	chr19:39058400-39081800	Weak transcription	Adipose Nuclei	Adipose
21	chr19:39059000-39066600	Weak transcription	Fetal Stomach	stomach
22	chr19:39059600-39070600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr19:39061800-39065600	Weak transcription	HSMMtube	muscle
24	chr19:39061800-39079000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr19:39062000-39068400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr19:39062800-39072200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr19:39064000-39076600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr19:39064200-39086400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr19:39065600-39066800	Strong transcription	HSMMtube	muscle

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