Variant report

Variant	esv3415347
Chromosome Location	chr19:39999360-39999883
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39967682..39970182-chr19:39997915..39999826,2	K562	blood:
2	chr19:39967682..39973021-chr19:39995906..39999826,6	K562	blood:
3	chr19:39922964..39925489-chr19:39998609..40000385,2	K562	blood:
4	chr19:39996434..39999971-chr19:40007133..40012367,8	K562	blood:
5	chr19:39988036..39992269-chr19:39996706..39999798,3	K562	blood:
6	chr19:39934123..39936292-chr19:39998837..40000591,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EID2B-1	chr19:39998899-40000234	ucscGeneNc_uc002nwj_2

No data

Variant related genes	Relation type
ENSG00000196235	chromatin interactions
ENSG00000105193	chromatin interactions
ENSG00000090932	chromatin interactions
ENSG00000105197	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547722441	chr19:39999370-39999371	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
2	rs565745329	chr19:39999384-39999385	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
3	rs536336377	chr19:39999418-39999419	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
4	rs376803506	chr19:39999453-39999454	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
5	rs115644594	chr19:39999462-39999463	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
6	rs537686161	chr19:39999494-39999495	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
7	rs76599601	chr19:39999520-39999521	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
8	rs118062192	chr19:39999540-39999541	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
9	rs80195299	chr19:39999572-39999573	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
10	rs367748550	chr19:39999641-39999642	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
11	rs559352968	chr19:39999712-39999713	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
12	rs142088382	chr19:39999785-39999786	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
13	rs541923537	chr19:39999791-39999792	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
14	rs563404969	chr19:39999794-39999795	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
15	rs571096115	chr19:39999816-39999817	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
16	rs530532970	chr19:39999839-39999840	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs113799131	chr19:39999844-39999845	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs545949538	chr19:39999850-39999851	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs374666740	chr19:39999866-39999867	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
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

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39998400-40005400	Weak transcription	Right Atrium	heart
2	chr19:39998800-39999400	Enhancers	Fetal Brain Male	brain
3	chr19:39999000-39999600	Enhancers	Brain Germinal Matrix	brain
4	chr19:39999200-39999600	Bivalent Enhancer	Fetal Brain Female	brain
5	chr19:39999400-40005200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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