Variant report

Variant	esv3318538
Chromosome Location	chr19:40665300-40666305
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8106007	chr19:40665301-40665302	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550939421	chr19:40665310-40665311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs8106012	chr19:40665311-40665312	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs533825029	chr19:40665352-40665353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555382374	chr19:40665355-40665356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573735255	chr19:40665379-40665380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs8105260	chr19:40665440-40665441	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs557393151	chr19:40665441-40665442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575793253	chr19:40665519-40665520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146544819	chr19:40665562-40665563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181960743	chr19:40665611-40665612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573318202	chr19:40665637-40665638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540882367	chr19:40665641-40665642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141218764	chr19:40665681-40665682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs16974108	chr19:40665727-40665728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73553624	chr19:40665776-40665777	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs562767737	chr19:40665792-40665793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs60202524	chr19:40665857-40665858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76666735	chr19:40665871-40665872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs474481	chr19:40665924-40665925	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs57484453	chr19:40665947-40665948	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs621232	chr19:40665957-40665958	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs143169307	chr19:40666017-40666018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567134778	chr19:40666018-40666019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549233353	chr19:40666020-40666021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188843073	chr19:40666029-40666030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567465115	chr19:40666030-40666031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538175781	chr19:40666034-40666035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371934069	chr19:40666043-40666044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376814588	chr19:40666079-40666080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs79710624	chr19:40666108-40666109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571516702	chr19:40666142-40666143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528341500	chr19:40666173-40666174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140409844	chr19:40666195-40666196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546599934	chr19:40666283-40666284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558295002	chr19:40666303-40666304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Anaplastic thyroid cancer	18753363	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40654200-40673400	Weak transcription	Right Atrium	heart
2	chr19:40659600-40667400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:40659600-40667600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr19:40661000-40667400	Weak transcription	Primary B cells from cord blood	blood
5	chr19:40662000-40667600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr19:40662000-40667600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr19:40662200-40667800	Weak transcription	GM12878-XiMat	blood
8	chr19:40662600-40667600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr19:40663200-40668600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr19:40663600-40666200	Enhancers	HepG2	liver
11	chr19:40663800-40667400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr19:40665000-40665400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr19:40665400-40669400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr19:40665600-40666400	Enhancers	Ovary	ovary
15	chr19:40666200-40667600	Weak transcription	HepG2	liver

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