Variant report

Variant	nsv820174
Chromosome Location	chr19:39398452-39398748
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:39388731..39393423-chr19:39394024..39400037,10	K562	blood:
2	chr19:39339924..39344199-chr19:39398243..39400684,3	MCF-7	breast:
3	chr19:39395944..39398654-chr19:39409098..39410676,3	K562	blood:
4	chr19:39398169..39400794-chr19:39403289..39404909,2	MCF-7	breast:
5	chr19:39394709..39398675-chr19:39410709..39413256,3	K562	blood:
6	chr19:39337064..39339680-chr19:39397865..39400024,2	K562	blood:
7	chr19:39390244..39393015-chr19:39395233..39398542,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104824	chromatin interactions
ENSG00000068903	chromatin interactions
ENSG00000104825	chromatin interactions
ENSG00000104835	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182337122	chr19:39398455-39398456	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs566945562	chr19:39398460-39398461	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs3136643	chr19:39398475-39398476	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs539695373	chr19:39398485-39398486	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs557991772	chr19:39398490-39398491	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs572991857	chr19:39398553-39398554	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs540416242	chr19:39398590-39398591	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs370233723	chr19:39398623-39398624	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs3136644	chr19:39398631-39398632	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs543819871	chr19:39398635-39398636	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs3136645	chr19:39398649-39398650	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs80002489	chr19:39398655-39398656	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs187765742	chr19:39398715-39398716	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs192589819	chr19:39398729-39398730	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs549303919	chr19:39398747-39398748	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39391200-39420800	Weak transcription	Small Intestine	intestine
2	chr19:39391400-39402200	Weak transcription	Fetal Brain Male	brain
3	chr19:39391600-39414800	Weak transcription	HMEC	breast
4	chr19:39391600-39420600	Weak transcription	Right Atrium	heart
5	chr19:39391800-39399000	Weak transcription	NH-A	brain
6	chr19:39391800-39399600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr19:39391800-39400400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr19:39391800-39401800	Weak transcription	Fetal Lung	lung
9	chr19:39391800-39412200	Weak transcription	Osteobl	bone
10	chr19:39392000-39399600	Weak transcription	K562	blood
11	chr19:39392400-39399400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr19:39392400-39414800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:39392600-39406000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr19:39392600-39414600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr19:39392600-39418800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr19:39393600-39400200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr19:39393800-39400200	Strong transcription	Primary B cells from cord blood	blood
18	chr19:39394000-39401200	Strong transcription	Fetal Intestine Small	intestine
19	chr19:39394200-39399200	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr19:39394200-39399200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr19:39394200-39401200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:39394600-39401200	Strong transcription	Fetal Stomach	stomach
23	chr19:39394800-39398800	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr19:39394800-39398800	Strong transcription	Primary B cells from peripheral blood	blood
25	chr19:39394800-39398800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr19:39394800-39398800	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr19:39394800-39399400	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr19:39394800-39399800	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr19:39394800-39399800	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr19:39394800-39400000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr19:39394800-39400000	Strong transcription	Brain Cingulate Gyrus	brain
32	chr19:39394800-39400000	Strong transcription	Spleen	Spleen
33	chr19:39394800-39400200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr19:39394800-39400200	Strong transcription	Dnd41	blood
35	chr19:39394800-39401000	Strong transcription	Gastric	stomach
36	chr19:39394800-39401800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr19:39395000-39398600	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr19:39395000-39398800	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr19:39395000-39398800	Strong transcription	Placenta	Placenta
40	chr19:39395000-39399000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr19:39395000-39399400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr19:39395000-39400000	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr19:39395000-39400000	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr19:39395000-39400000	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr19:39395000-39400200	Strong transcription	Duodenum Mucosa	Duodenum
46	chr19:39395000-39400200	Strong transcription	Lung	lung
47	chr19:39395000-39400400	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr19:39395000-39400400	Strong transcription	Fetal Muscle Trunk	muscle
49	chr19:39395000-39400400	Strong transcription	Stomach Smooth Muscle	stomach
50	chr19:39395000-39401000	Strong transcription	Adipose Nuclei	Adipose

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