Variant report

Variant	nsv887817
Chromosome Location	chr7:19021592-19100076
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:3)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:18732720..18733608-chr7:19091484..19092067,2	MCF-7	breast:
2	chr7:19014156..19016996-chr7:19021800..19024663,2	K562	blood:
3	chr7:18391654..18392549-chr7:19091447..19091975,2	K562	blood:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TWIST1-1	chr7:19095674-19095789	XLOC_006364
2	lnc-TWIST1-1	chr7:19039116-19039872	XLOC_006364
3	lnc-TWIST1-1	chr7:19095674-19095725	XLOC_006364
4	lnc-TWIST1-1	chr7:19039842-19040870	XLOC_006364
5	lnc-TWIST1-1	chr7:19039589-19039872	XLOC_006364
6	lnc-TWIST1-4	chr7:19062199-19062250	l_3369_chr7:19006113-19008526_breast
7	lnc-TWIST1-1	chr7:19040803-19040870	XLOC_006364
8	lnc-HDAC9-1	chr7:19037466-19042039	ENSG00000260214.1
9	lnc-TWIST1-1	chr7:19040803-19040901	XLOC_006364
10	lnc-HDAC9-1	chr7:19040467-19042028	NONHSAT119375

No data

Variant related genes	Relation type
BCL2L11	miRNA target sites

Extended variants
information (count: 3785 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:3785 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2158495	chr7:19021592-19021593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs575336650	chr7:19021639-19021640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76906603	chr7:19021641-19021642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530313073	chr7:19021650-19021651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573243159	chr7:19021661-19021662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569692319	chr7:19021699-19021700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147408022	chr7:19021757-19021758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183839172	chr7:19021765-19021766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544328178	chr7:19021792-19021793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570477263	chr7:19021837-19021838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534635934	chr7:19021914-19021915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553208627	chr7:19021930-19021931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568307533	chr7:19021980-19021981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535626519	chr7:19021983-19021984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116821836	chr7:19022001-19022002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576102299	chr7:19022007-19022008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543527720	chr7:19022023-19022024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139970791	chr7:19022032-19022033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572802471	chr7:19022042-19022043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560794564	chr7:19022094-19022095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373627670	chr7:19022098-19022099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186957495	chr7:19022102-19022103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371787966	chr7:19022138-19022139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113377549	chr7:19022154-19022155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73307090	chr7:19022170-19022171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs75575749	chr7:19022193-19022194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs193096047	chr7:19022209-19022210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34633937	chr7:19022211-19022212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73307092	chr7:19022260-19022261	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs150022034	chr7:19022261-19022262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570587271	chr7:19022267-19022268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145175532	chr7:19022288-19022289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546317492	chr7:19022313-19022314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530682888	chr7:19022322-19022323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148726643	chr7:19022325-19022326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185804907	chr7:19022341-19022342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142281496	chr7:19022352-19022353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10264832	chr7:19022353-19022354	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs78645749	chr7:19022356-19022357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79136069	chr7:19022361-19022362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576965775	chr7:19022393-19022394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140717998	chr7:19022421-19022422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189931593	chr7:19022464-19022465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs193171200	chr7:19022501-19022502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575049572	chr7:19022509-19022510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527685186	chr7:19022510-19022511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542173798	chr7:19022541-19022542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564004883	chr7:19022550-19022551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145754000	chr7:19022571-19022572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546464493	chr7:19022604-19022605	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:365 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18991400-19025000	Weak transcription	Primary B cells from cord blood	blood
2	chr7:19013800-19040800	Weak transcription	Aorta	Aorta
3	chr7:19015800-19042400	Weak transcription	Left Ventricle	heart
4	chr7:19017400-19026000	Weak transcription	HSMMtube	muscle
5	chr7:19017600-19022600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr7:19017600-19029800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:19017800-19029800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:19018600-19021800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:19018800-19033600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr7:19019000-19022600	Weak transcription	NHDF-Ad	bronchial
11	chr7:19019400-19034600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:19022600-19024600	ZNF genes & repeats	NHDF-Ad	bronchial
13	chr7:19024600-19030800	Weak transcription	NHDF-Ad	bronchial
14	chr7:19029800-19030600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:19029800-19030600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:19030400-19034800	Weak transcription	Adipose Nuclei	Adipose
17	chr7:19030600-19035600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:19030600-19035600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:19030800-19032000	Strong transcription	NHDF-Ad	bronchial
20	chr7:19031400-19031800	Enhancers	Brain Germinal Matrix	brain
21	chr7:19031600-19032000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:19031600-19032200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr7:19031800-19035600	Weak transcription	Brain Germinal Matrix	brain
24	chr7:19032000-19033600	Weak transcription	NHDF-Ad	bronchial
25	chr7:19032000-19035000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:19032200-19035600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr7:19033000-19038000	Weak transcription	Primary B cells from cord blood	blood
28	chr7:19033600-19033800	Enhancers	Placenta	Placenta
29	chr7:19033600-19033800	Enhancers	NH-A	brain
30	chr7:19033600-19034000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:19033600-19034000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr7:19033600-19034000	Enhancers	Osteobl	bone
33	chr7:19033600-19034200	Enhancers	HSMM	muscle
34	chr7:19033600-19034400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:19033600-19035600	Enhancers	NHDF-Ad	bronchial
36	chr7:19033600-19035800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:19033800-19038800	Weak transcription	Placenta	Placenta
38	chr7:19034000-19035400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr7:19034000-19035600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:19034000-19035600	Weak transcription	Osteobl	bone
41	chr7:19034200-19034600	Weak transcription	HSMM	muscle
42	chr7:19034400-19034800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:19034400-19034800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:19034600-19034800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:19034600-19034800	Enhancers	HSMM	muscle
46	chr7:19034600-19035200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr7:19034800-19035200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:19034800-19035200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:19034800-19035600	Active TSS	Stomach Smooth Muscle	stomach
50	chr7:19034800-19035600	Active TSS	NHLF	lung

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