Variant report

Variant	nsv961160
Chromosome Location	chr19:45087090-45092462
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:45089492..45092172-chr19:45146831..45148815,2	MCF-7	breast:
2	chr19:45091258..45091782-chr19:45160836..45161506,2	MCF-7	breast:
3	chr19:45073687..45076293-chr19:45087873..45090777,2	MCF-7	breast:
4	chr19:45091277..45092240-chr19:45157832..45158354,2	MCF-7	breast:
5	chr19:45091239..45092125-chr19:45160341..45161067,2	MCF-7	breast:
6	chr19:45090304..45092038-chr19:45111542..45114028,2	MCF-7	breast:
7	chr19:45090855..45093405-chr19:45093462..45095676,2	MCF-7	breast:
8	chr19:45090347..45092952-chr19:45163399..45165875,2	MCF-7	breast:
9	chr19:45077994..45080248-chr19:45087095..45089133,2	MCF-7	breast:
10	chr19:45078734..45080955-chr19:45088424..45090075,2	K562	blood:
11	chr19:45079862..45080434-chr19:45088704..45089652,2	MCF-7	breast:
12	chr19:45016245..45017042-chr19:45088857..45089751,3	MCF-7	breast:
13	chr19:45083158..45085994-chr19:45086371..45089240,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000224366	chromatin interactions
ENSG00000186567	chromatin interactions
ENSG00000073008	chromatin interactions

Extended variants
information (count: 232 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:232 , 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	rs73936814	chr19:45087114-45087115	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs76014313	chr19:45087122-45087123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116882282	chr19:45087160-45087161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111611657	chr19:45087161-45087162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543059586	chr19:45087163-45087164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs117194067	chr19:45087167-45087168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529589466	chr19:45087193-45087194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547661183	chr19:45087209-45087210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539405118	chr19:45087223-45087224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553355619	chr19:45087240-45087241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572336462	chr19:45087261-45087262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371129779	chr19:45087268-45087269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561294689	chr19:45087270-45087271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559553630	chr19:45087271-45087272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375386375	chr19:45087293-45087294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372455431	chr19:45087299-45087300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143912488	chr19:45087310-45087311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62118207	chr19:45087311-45087312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs180976521	chr19:45087351-45087352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543642428	chr19:45087357-45087358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563194509	chr19:45087408-45087409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566613709	chr19:45087425-45087426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545451570	chr19:45087428-45087429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200027606	chr19:45087432-45087433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558935932	chr19:45087433-45087434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528106331	chr19:45087441-45087442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548472211	chr19:45087444-45087445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376407457	chr19:45087452-45087453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551920441	chr19:45087478-45087479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562086402	chr19:45087487-45087488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530970493	chr19:45087488-45087489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551158993	chr19:45087495-45087496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186153826	chr19:45087519-45087520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191073093	chr19:45087526-45087527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546814197	chr19:45087534-45087535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566850595	chr19:45087551-45087552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73936815	chr19:45087619-45087620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs569638695	chr19:45087632-45087633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554894651	chr19:45087640-45087641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537514715	chr19:45087685-45087686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574792695	chr19:45087716-45087717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536798098	chr19:45087736-45087737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182692035	chr19:45087753-45087754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576827457	chr19:45087781-45087782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545865348	chr19:45087846-45087847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139832938	chr19:45087847-45087848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187385445	chr19:45087852-45087853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567650719	chr19:45087976-45087977	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs116965902	chr19:45088025-45088026	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs562000109	chr19:45088026-45088027	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45080800-45088800	Weak transcription	A549	lung
2	chr19:45084800-45093400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr19:45085000-45088800	Weak transcription	K562	blood
4	chr19:45086400-45088400	Weak transcription	HepG2	liver
5	chr19:45086400-45091200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr19:45087000-45091000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr19:45088400-45089200	Enhancers	HepG2	liver
8	chr19:45088600-45088800	Enhancers	Duodenum Mucosa	Duodenum
9	chr19:45088600-45090600	Enhancers	NHLF	lung
10	chr19:45088600-45091400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr19:45088600-45091400	Enhancers	Hela-S3	cervix
12	chr19:45088600-45091600	Enhancers	HUVEC	blood vessel
13	chr19:45088800-45089000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr19:45088800-45090000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr19:45088800-45090600	Enhancers	A549	lung
16	chr19:45088800-45091200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr19:45088800-45091400	Enhancers	K562	blood
18	chr19:45088800-45091600	Enhancers	Osteobl	bone
19	chr19:45088800-45092400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr19:45089000-45090400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr19:45089000-45091600	Enhancers	NH-A	brain
22	chr19:45089200-45089400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr19:45089200-45091200	Weak transcription	Fetal Intestine Small	intestine
24	chr19:45089200-45091400	Weak transcription	HepG2	liver
25	chr19:45089800-45091000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr19:45090000-45090600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr19:45090000-45091200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr19:45090200-45092400	Enhancers	NHDF-Ad	bronchial
29	chr19:45090400-45091600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr19:45090400-45092400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr19:45090400-45092600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr19:45090600-45091000	Weak transcription	A549	lung
33	chr19:45090600-45091000	Weak transcription	NHLF	lung
34	chr19:45090600-45091600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr19:45091000-45091200	Enhancers	A549	lung
36	chr19:45091000-45091600	Enhancers	NHEK	skin
37	chr19:45091000-45092000	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr19:45091000-45092200	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr19:45091000-45092400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr19:45091000-45092400	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr19:45091000-45092400	Enhancers	Muscle Satellite Cultured Cells	--
42	chr19:45091000-45092400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr19:45091000-45092600	Enhancers	HMEC	breast
44	chr19:45091000-45092600	Enhancers	NHLF	lung
45	chr19:45091000-45095800	Enhancers	Stomach Mucosa	stomach
46	chr19:45091200-45091400	Enhancers	HSMMtube	muscle
47	chr19:45091200-45091600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr19:45091200-45091600	Enhancers	HSMM	muscle
49	chr19:45091200-45092200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr19:45091200-45092200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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