Variant report

Variant	nsv519024
Chromosome Location	chr7:19103926-19134119
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:1)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:19108873..19109612-chr7:105741975..105742841,2	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FERD3L-1	chr7:19132725-19133001	NONHSAT119378
2	lnc-HDAC9-7	chr7:19127929-19128064	NONHSAT119377
3	lnc-HDAC9-6	chr7:19118622-19118815	ucscGeneNc_uc003sul_1
4	lnc-HDAC9-6	chr7:19118903-19120418	ucscGeneNc_uc003sul_1
5	lnc-HDAC9-6	chr7:19118622-19118815	NONHSAT119376
6	lnc-HDAC9-6	chr7:19118903-19120419	NONHSAT119376
7	lnc-HDAC9-7	chr7:19126081-19126636	NONHSAT119377

No data

Extended variants
information (count: 1250 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1250 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2521720	chr7:19103926-19103927	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188025489	chr7:19103941-19103942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548275407	chr7:19104008-19104009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569856770	chr7:19104010-19104011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11983603	chr7:19104027-19104028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530918444	chr7:19104029-19104030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552318493	chr7:19104061-19104062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140791481	chr7:19104133-19104134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144754048	chr7:19104165-19104166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191597097	chr7:19104172-19104173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2717340	chr7:19104204-19104205	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs368201367	chr7:19104213-19104214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536102743	chr7:19104235-19104236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527962828	chr7:19104241-19104242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557081306	chr7:19104248-19104249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147486860	chr7:19104254-19104255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539396161	chr7:19104267-19104268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145353848	chr7:19104278-19104279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572806680	chr7:19104286-19104287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs151106131	chr7:19104295-19104296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376658165	chr7:19104310-19104311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573492179	chr7:19104357-19104358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141120670	chr7:19104362-19104363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553172417	chr7:19104382-19104383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563421743	chr7:19104396-19104397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149824531	chr7:19104397-19104398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145830135	chr7:19104453-19104454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564281795	chr7:19104466-19104467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2521737	chr7:19104468-19104469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs547309164	chr7:19104490-19104491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182571061	chr7:19104523-19104524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140888889	chr7:19104538-19104539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73310658	chr7:19104570-19104571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74664635	chr7:19104633-19104634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539122901	chr7:19104649-19104650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557839696	chr7:19104726-19104727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144640216	chr7:19104753-19104754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2521736	chr7:19104765-19104766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs138592648	chr7:19104836-19104837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573626235	chr7:19104858-19104859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544123391	chr7:19104891-19104892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140212050	chr7:19104908-19104909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10240640	chr7:19104977-19104978	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs187993372	chr7:19104978-19104979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143466448	chr7:19105012-19105013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538147908	chr7:19105031-19105032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2717341	chr7:19105065-19105066	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs547048890	chr7:19105066-19105067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535527441	chr7:19105104-19105105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74684149	chr7:19105119-19105120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19101200-19105400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr7:19101200-19105400	Weak transcription	HSMM	muscle
3	chr7:19101400-19105200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:19102200-19105600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:19102200-19105600	Weak transcription	HSMMtube	muscle
6	chr7:19102600-19118000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:19102800-19106200	Weak transcription	NHDF-Ad	bronchial
8	chr7:19103000-19106400	Weak transcription	Osteobl	bone
9	chr7:19105200-19106400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:19105400-19106800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr7:19105400-19106800	Enhancers	HSMM	muscle
12	chr7:19105600-19105800	Enhancers	HSMMtube	muscle
13	chr7:19106200-19106600	Enhancers	NHDF-Ad	bronchial
14	chr7:19106400-19106600	Enhancers	Osteobl	bone
15	chr7:19106600-19109600	Weak transcription	Osteobl	bone
16	chr7:19106600-19111400	Weak transcription	NHDF-Ad	bronchial
17	chr7:19106800-19118600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr7:19109600-19109800	Enhancers	Osteobl	bone
19	chr7:19111400-19112000	ZNF genes & repeats	NHDF-Ad	bronchial
20	chr7:19112000-19113400	Weak transcription	NHDF-Ad	bronchial
21	chr7:19113200-19113600	ZNF genes & repeats	Pancreas	Pancrea
22	chr7:19113200-19113800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:19113400-19113600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:19113400-19113600	ZNF genes & repeats	NHDF-Ad	bronchial
25	chr7:19113600-19119000	Weak transcription	NHDF-Ad	bronchial
26	chr7:19113800-19120000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:19114000-19118800	Weak transcription	HSMM	muscle
28	chr7:19117000-19117200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:19117200-19118200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:19117600-19117800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr7:19117800-19118600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:19118000-19120400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:19118200-19119200	Enhancers	HMEC	breast
34	chr7:19118200-19120400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:19118200-19120600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr7:19118400-19118600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:19118400-19118800	Enhancers	Osteobl	bone
38	chr7:19118400-19119600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:19118600-19118800	Enhancers	Muscle Satellite Cultured Cells	--
40	chr7:19118600-19118800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:19118600-19119000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr7:19118600-19119000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:19118600-19119000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:19118600-19119000	Enhancers	NH-A	brain
45	chr7:19118600-19119200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:19118600-19119200	Enhancers	Hela-S3	cervix
47	chr7:19118600-19120000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:19118600-19120400	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr7:19118600-19120800	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr7:19118600-19121600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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