Variant report

Variant	nsv960838
Chromosome Location	chr19:41401531-41413740
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:41403631..41404535-chr19:41426743..41427640,3	MCF-7	breast:
2	chr19:41399908..41401580-chr19:41403170..41405832,2	K562	blood:
3	chr19:41403893..41404465-chr19:41426940..41427721,3	MCF-7	breast:
4	chr19:41402764..41404298-chr19:41428958..41430909,2	MCF-7	breast:
5	chr19:41400931..41403268-chr19:41432541..41435329,2	K562	blood:
6	chr19:41399908..41401580-chr19:41403170..41405832,2	K562	blood:
7	chr19:41283761..41286182-chr19:41409909..41411443,2	K562	blood:

Variant related genes	Relation type
ENSG00000171570	chromatin interactions
ENSG00000256612	chromatin interactions
ENSG00000167578	chromatin interactions

Extended variants
information (count: 503 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:503 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542124012	chr19:41401563-41401564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186888414	chr19:41401565-41401566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575095282	chr19:41401590-41401591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550423179	chr19:41401615-41401616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190342517	chr19:41401668-41401669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370653456	chr19:41401697-41401698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563978737	chr19:41401716-41401717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111401952	chr19:41401728-41401729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572682748	chr19:41401743-41401744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374355568	chr19:41401756-41401757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73931386	chr19:41401763-41401764	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs559516630	chr19:41401777-41401778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530257005	chr19:41401800-41401801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9630870	chr19:41401801-41401802	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs563662682	chr19:41401864-41401865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530767992	chr19:41401917-41401918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11878463	chr19:41401924-41401925	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs547366553	chr19:41401929-41401930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4803398	chr19:41401950-41401951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535115152	chr19:41401951-41401952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547144650	chr19:41401988-41401989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568247265	chr19:41402021-41402022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73555347	chr19:41402025-41402026	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs73034421	chr19:41402057-41402058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141493946	chr19:41402098-41402099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552097471	chr19:41402122-41402123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs3956342	chr19:41402162-41402163	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs182553892	chr19:41402163-41402164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147640730	chr19:41402193-41402194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142304912	chr19:41402202-41402203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561478315	chr19:41402311-41402312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574666268	chr19:41402340-41402341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559555518	chr19:41402365-41402366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs35870895	chr19:41402373-41402374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143123318	chr19:41402390-41402391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542024605	chr19:41402414-41402415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563601304	chr19:41402466-41402467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186826405	chr19:41402516-41402517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552641601	chr19:41402531-41402532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6508953	chr19:41402579-41402580	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs535468730	chr19:41402586-41402587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528511626	chr19:41402597-41402598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12327580	chr19:41402620-41402621	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs189669989	chr19:41402627-41402628	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs148237645	chr19:41402628-41402629	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs550805108	chr19:41402680-41402681	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs568995254	chr19:41402690-41402691	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs539714601	chr19:41402755-41402756	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs35427694	chr19:41402794-41402795	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs557793316	chr19:41402851-41402852	Enhancers Flanking Active TSS	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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41395800-41402000	Weak transcription	K562	blood
2	chr19:41401200-41402600	Enhancers	A549	lung
3	chr19:41402000-41404400	Enhancers	K562	blood
4	chr19:41402600-41403000	Flanking Active TSS	A549	lung
5	chr19:41402600-41403600	Enhancers	HepG2	liver
6	chr19:41402600-41405000	Enhancers	Liver	Liver
7	chr19:41402800-41403000	Enhancers	Lung	lung
8	chr19:41402800-41403400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr19:41402800-41403400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr19:41403000-41403200	Enhancers	A549	lung
11	chr19:41403000-41414200	Weak transcription	Lung	lung
12	chr19:41403200-41403600	Flanking Active TSS	A549	lung
13	chr19:41403600-41404800	Enhancers	A549	lung
14	chr19:41404200-41404800	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr19:41404400-41405600	Weak transcription	K562	blood
16	chr19:41405400-41406800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr19:41405600-41406200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr19:41405600-41406200	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr19:41405600-41406200	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr19:41405600-41406400	Enhancers	Primary B cells from peripheral blood	blood
21	chr19:41405600-41406600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr19:41405600-41406600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr19:41405600-41406600	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr19:41405600-41406600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr19:41405600-41406800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr19:41405600-41406800	Enhancers	K562	blood
27	chr19:41405800-41406200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr19:41405800-41406200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr19:41405800-41406200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr19:41405800-41406200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr19:41405800-41406400	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr19:41405800-41406600	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr19:41406800-41410400	Weak transcription	K562	blood
34	chr19:41407800-41408200	Bivalent Enhancer	A549	lung
35	chr19:41408000-41408200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr19:41408200-41410600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr19:41410000-41410600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr19:41410400-41411200	Enhancers	K562	blood
39	chr19:41410600-41411200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr19:41410600-41411200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr19:41410800-41411000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr19:41410800-41411200	Enhancers	A549	lung
43	chr19:41411200-41413400	Weak transcription	K562	blood
44	chr19:41411200-41414400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr19:41413400-41413800	Enhancers	K562	blood
46	chr19:41413600-41414200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr19:41413600-41414200	Enhancers	Primary B cells from peripheral blood	blood
48	chr19:41413600-41414400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
49	chr19:41413600-41414400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr19:41413600-41415400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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