Variant report

Variant	esv3318137
Chromosome Location	chr19:43981245-43982094
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:43977180..43982299-chr19:44003653..44008245,6	K562	blood:
2	chr19:43973013..43975341-chr19:43978151..43982026,3	K562	blood:
3	chr19:43951229..43953633-chr19:43981664..43984219,2	MCF-7	breast:
4	chr19:43967515..43971066-chr19:43978004..43981821,7	MCF-7	breast:
5	chr19:43978041..43981341-chr19:43983217..43985087,4	K562	blood:
6	chr19:43979844..43983821-chr19:43985802..43988529,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124466	chromatin interactions

Extended variants
information (count: 37 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374864558	chr19:43981245-43981246	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs534249290	chr19:43981260-43981261	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs2599438	chr19:43981272-43981273	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs573902244	chr19:43981292-43981293	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs536997332	chr19:43981321-43981322	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs17724939	chr19:43981326-43981327	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs141470268	chr19:43981360-43981361	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs147029162	chr19:43981418-43981419	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs558699220	chr19:43981456-43981457	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs182919434	chr19:43981469-43981470	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs539902380	chr19:43981508-43981509	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs560097987	chr19:43981562-43981563	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs528880805	chr19:43981583-43981584	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs542950819	chr19:43981588-43981589	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs562627805	chr19:43981593-43981594	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs147428539	chr19:43981611-43981612	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs531566911	chr19:43981623-43981624	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs145478727	chr19:43981630-43981631	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs571424056	chr19:43981660-43981661	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs144903376	chr19:43981668-43981669	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs527787051	chr19:43981687-43981688	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs547570541	chr19:43981696-43981697	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs568391136	chr19:43981697-43981698	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs187243999	chr19:43981734-43981735	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs567690452	chr19:43981796-43981797	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs536235573	chr19:43981823-43981824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187718155	chr19:43981826-43981827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192871966	chr19:43981829-43981830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529283912	chr19:43981858-43981859	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112154063	chr19:43981886-43981887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373810499	chr19:43981892-43981893	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538912713	chr19:43981896-43981897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558736202	chr19:43981931-43981932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372039420	chr19:43981959-43981960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547844321	chr19:43981972-43981973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540371351	chr19:43982059-43982060	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553578216	chr19:43982089-43982090	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Cancer	20164920	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43970000-43998200	Weak transcription	Gastric	stomach
2	chr19:43973800-43999800	Weak transcription	HepG2	liver
3	chr19:43979200-43982000	Weak transcription	Spleen	Spleen
4	chr19:43979400-43981400	Enhancers	NHLF	lung
5	chr19:43979400-43983200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr19:43979600-44005800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:43979800-43981400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr19:43979800-43981800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr19:43979800-43982200	Weak transcription	Esophagus	oesophagus
10	chr19:43979800-43985200	Weak transcription	Ovary	ovary
11	chr19:43979800-43990200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr19:43979800-43992400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr19:43979800-43994800	Weak transcription	Left Ventricle	heart
14	chr19:43979800-43998400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr19:43979800-43998600	Weak transcription	Lung	lung
16	chr19:43979800-43998800	Weak transcription	Aorta	Aorta
17	chr19:43979800-43998800	Weak transcription	Pancreas	Pancrea
18	chr19:43980000-43981400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr19:43980000-43981400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr19:43980000-43981400	Weak transcription	Primary T cells from cord blood	blood
21	chr19:43980000-43981400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr19:43980000-43981400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr19:43980000-43981400	Enhancers	HUVEC	blood vessel
24	chr19:43980000-43981400	Enhancers	NHDF-Ad	bronchial
25	chr19:43980000-43981600	Enhancers	Fetal Muscle Trunk	muscle
26	chr19:43980000-43982000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr19:43980000-43982000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr19:43980000-43982000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr19:43980000-43982000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr19:43980000-43982000	Weak transcription	Brain Hippocampus Middle	brain
31	chr19:43980000-43982000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr19:43980000-43982000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr19:43980000-43982000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr19:43980000-43982800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr19:43980000-43984000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr19:43980000-43984000	Weak transcription	Fetal Heart	heart
37	chr19:43980000-43985000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr19:43980000-43989000	Strong transcription	Fetal Intestine Small	intestine
39	chr19:43980000-43990600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr19:43980000-43990800	Weak transcription	Colonic Mucosa	Colon
41	chr19:43980000-43994600	Weak transcription	Brain Anterior Caudate	brain
42	chr19:43980000-43994800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr19:43980000-43995000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:43980000-43998600	Weak transcription	Brain Germinal Matrix	brain
45	chr19:43980000-43998600	Weak transcription	Fetal Brain Female	brain
46	chr19:43980000-43998800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr19:43980000-43999400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr19:43980000-43999400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr19:43980000-43999600	Weak transcription	Brain Angular Gyrus	brain
50	chr19:43980000-43999600	Weak transcription	Colon Smooth Muscle	Colon

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