Variant report

Variant	nsv960844
Chromosome Location	chr19:42264670-42269863
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42267949..42271165-chr19:42271348..42273565,4	MCF-7	breast:
2	chr19:42264279..42265864-chr19:42267759..42270746,2	MCF-7	breast:
3	chr19:42258691..42261541-chr19:42266017..42268400,4	MCF-7	breast:
4	chr19:42262778..42266389-chr19:42276917..42279036,3	MCF-7	breast:
5	chr19:42265754..42267325-chr19:42289223..42291890,2	K562	blood:
6	chr19:42258418..42261395-chr19:42263333..42266210,2	K562	blood:
7	chr19:42264279..42265864-chr19:42267759..42270746,2	MCF-7	breast:
8	chr19:42259424..42262726-chr19:42264710..42268289,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000086548	chromatin interactions
ENSG00000268833	chromatin interactions

Extended variants
information (count: 208 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:208 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539227369	chr19:42264670-42264671	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs554455094	chr19:42264683-42264684	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs572405300	chr19:42264696-42264697	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs536762028	chr19:42264700-42264701	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs554634625	chr19:42264707-42264708	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs576361350	chr19:42264764-42264765	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs35583854	chr19:42264765-42264766	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs71181130	chr19:42264771-42264772	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs555937481	chr19:42264778-42264779	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs139839831	chr19:42264839-42264840	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs368060699	chr19:42264853-42264854	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs564825688	chr19:42264883-42264884	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs576771702	chr19:42264884-42264885	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs540779181	chr19:42264889-42264890	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs537783639	chr19:42264894-42264895	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs559508318	chr19:42264911-42264912	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs529719849	chr19:42264919-42264920	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs548286705	chr19:42264945-42264946	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs369203647	chr19:42264953-42264954	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs78812191	chr19:42264967-42264968	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs146677991	chr19:42264986-42264987	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs552244143	chr19:42265024-42265025	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs140227407	chr19:42265028-42265029	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs539346683	chr19:42265058-42265059	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs115146141	chr19:42265080-42265081	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs550075849	chr19:42265086-42265087	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs367563451	chr19:42265115-42265116	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs371477019	chr19:42265123-42265124	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs376023129	chr19:42265140-42265141	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs536472575	chr19:42265142-42265143	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs369397467	chr19:42265144-42265145	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs372425901	chr19:42265146-42265147	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs150279040	chr19:42265158-42265159	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs576498692	chr19:42265173-42265174	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs537042421	chr19:42265197-42265198	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs143159805	chr19:42265201-42265202	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs576685461	chr19:42265206-42265207	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs147402597	chr19:42265207-42265208	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs139700050	chr19:42265219-42265220	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs200014119	chr19:42265236-42265237	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs201070424	chr19:42265261-42265262	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs369556770	chr19:42265262-42265263	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs373281695	chr19:42265267-42265268	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs559254485	chr19:42265284-42265285	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs373480488	chr19:42265307-42265308	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs376476934	chr19:42265311-42265312	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs200497564	chr19:42265320-42265321	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs199611051	chr19:42265321-42265322	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs563388006	chr19:42265325-42265326	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs530670530	chr19:42265328-42265329	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	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
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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42262000-42266600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr19:42262600-42270400	Weak transcription	Fetal Intestine Small	intestine
3	chr19:42262800-42265200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:42262800-42276600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr19:42263000-42267000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr19:42263200-42265400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr19:42263400-42265400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr19:42263400-42267600	Weak transcription	Lung	lung
9	chr19:42263400-42277800	Weak transcription	Esophagus	oesophagus
10	chr19:42263600-42265400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr19:42263600-42265400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:42265400-42265800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr19:42265400-42266200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr19:42265400-42267000	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr19:42266200-42266400	Enhancers	Primary hematopoietic stem cells	blood
16	chr19:42267000-42267200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
17	chr19:42267000-42271000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr19:42267200-42270000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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