Variant report

Variant	nsv578778
Chromosome Location	chr19:18764320-18765411
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18723523..18726330-chr19:18762197..18764548,2	K562	blood:
2	chr19:18763880..18765742-chr19:18767245..18768815,2	K562	blood:
3	chr19:18756524..18758579-chr19:18764245..18767050,2	K562	blood:
4	chr19:18570477..18573833-chr19:18762488..18765349,3	K562	blood:
5	chr19:18747224..18749100-chr19:18763072..18765971,2	K562	blood:

Variant related genes	Relation type
ENSG00000105696	chromatin interactions
ENSG00000167487	chromatin interactions

Extended variants
information (count: 41 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186801782	chr19:18764335-18764336	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs191274703	chr19:18764348-18764349	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs184164411	chr19:18764349-18764350	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs188715816	chr19:18764364-18764365	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs575269267	chr19:18764422-18764423	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs193225126	chr19:18764452-18764453	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs544164453	chr19:18764501-18764502	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs564625877	chr19:18764504-18764505	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs57735983	chr19:18764547-18764548	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs56741106	chr19:18764553-18764554	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs60882275	chr19:18764557-18764558	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs10424265	chr19:18764569-18764570	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs184150690	chr19:18764571-18764572	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs58666845	chr19:18764584-18764585	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs547178762	chr19:18764616-18764617	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs560560614	chr19:18764619-18764620	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs534725589	chr19:18764642-18764643	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs529505689	chr19:18764691-18764692	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs549723743	chr19:18764749-18764750	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs368518539	chr19:18764793-18764794	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs554529329	chr19:18764802-18764803	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs145555023	chr19:18764814-18764815	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs573640683	chr19:18764971-18764972	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs372653796	chr19:18764984-18764985	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs117707465	chr19:18765015-18765016	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs551045233	chr19:18765058-18765059	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs571328854	chr19:18765131-18765132	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs533691837	chr19:18765135-18765136	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs10423852	chr19:18765147-18765148	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs147954964	chr19:18765150-18765151	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs180795005	chr19:18765151-18765152	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs536022466	chr19:18765204-18765205	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs556052526	chr19:18765205-18765206	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs575902737	chr19:18765206-18765207	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs544203123	chr19:18765226-18765227	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs371711411	chr19:18765269-18765270	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs191447208	chr19:18765288-18765289	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs10403231	chr19:18765290-18765291	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs151082167	chr19:18765317-18765318	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs560610563	chr19:18765341-18765342	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs185936375	chr19:18765401-18765402	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Follicular lymphoma	20505157	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	20179077	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Lung cancer	17297452	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Chordoma	18071362	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Mycobacterial infection	18421352	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute monocytic leukemia	16498392	CNVD
Lung cancer	18438408	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Liver carcinoma	19366792	CNVD
Colorectal cancer	19455253	CNVD
Lujan-Fryns syndrom	21521776	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Cancer	17440070	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18748600-18774400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr19:18749200-18768200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr19:18749200-18778400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr19:18749400-18774000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr19:18755800-18766600	Weak transcription	HepG2	liver
6	chr19:18756400-18778400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr19:18759400-18776200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr19:18759800-18778400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr19:18760000-18770000	Weak transcription	Gastric	stomach
10	chr19:18760000-18770000	Weak transcription	Stomach Mucosa	stomach
11	chr19:18760200-18775000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr19:18760400-18774000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr19:18760400-18794800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr19:18760600-18774800	Weak transcription	Thymus	Thymus
15	chr19:18760800-18765200	Weak transcription	Fetal Brain Female	brain
16	chr19:18760800-18776200	Weak transcription	Liver	Liver
17	chr19:18760800-18778400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr19:18761000-18767200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr19:18761000-18767800	Weak transcription	GM12878-XiMat	blood
20	chr19:18761200-18768000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr19:18761200-18768000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr19:18761200-18769600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr19:18761400-18766200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr19:18761600-18769600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr19:18761800-18768000	Weak transcription	Fetal Intestine Large	intestine
26	chr19:18762000-18765400	Weak transcription	Fetal Kidney	kidney
27	chr19:18762000-18766800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr19:18762000-18767400	Weak transcription	Brain Substantia Nigra	brain
29	chr19:18762000-18768600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr19:18762000-18770200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr19:18762200-18767800	Weak transcription	Brain Germinal Matrix	brain
32	chr19:18762200-18771200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr19:18762400-18768400	Weak transcription	Colonic Mucosa	Colon
34	chr19:18762600-18766800	Weak transcription	Fetal Heart	heart
35	chr19:18762600-18767800	Weak transcription	Brain Angular Gyrus	brain
36	chr19:18762600-18767800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr19:18762600-18768000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr19:18762600-18768200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr19:18762600-18774600	Weak transcription	Primary T cells from cord blood	blood
40	chr19:18762600-18775600	Weak transcription	Dnd41	blood
41	chr19:18762800-18764800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr19:18762800-18765600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr19:18762800-18765600	Weak transcription	Fetal Stomach	stomach
44	chr19:18762800-18766600	Weak transcription	Brain Hippocampus Middle	brain
45	chr19:18762800-18766600	Weak transcription	Lung	lung
46	chr19:18762800-18767200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr19:18762800-18767200	Weak transcription	Brain Anterior Caudate	brain
48	chr19:18762800-18767200	Weak transcription	Right Atrium	heart
49	chr19:18762800-18767600	Weak transcription	HSMMtube	muscle
50	chr19:18762800-18767800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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