Variant report

Variant	nsv1023385
Chromosome Location	chr7:71815307-71858167
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:71838948..71841718-chr7:71841980..71845073,3	K562	blood:
2	chr7:71835115..71837488-chr7:71840184..71842880,2	K562	blood:
3	chr7:71851405..71854103-chr7:71858001..71860587,2	MCF-7	breast:
4	chr3:149645275..149646111-chr7:71851509..71852107,2	MCF-7	breast:
5	chr7:71835115..71837488-chr7:71840184..71842880,2	K562	blood:
6	chr7:71838948..71841718-chr7:71841980..71845073,3	K562	blood:
7	chr7:71810202..71812135-chr7:71814451..71816672,2	K562	blood:
8	chr7:71806092..71808807-chr7:71850228..71852499,2	K562	blood:
9	chr7:71851405..71854103-chr7:71858001..71860587,2	MCF-7	breast:
10	chr7:71857064..71858979-chr7:71870534..71872385,2	K562	blood:

No data

Extended variants
information (count: 270 )
Associated
traits (count: 131 )

Variant overlapped rSNPs/rCNVs (count:270 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189765208	chr7:71821644-71821645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535226971	chr7:71821645-71821646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76141223	chr7:71821651-71821652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575120163	chr7:71821695-71821696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs118133793	chr7:71821705-71821706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576241595	chr7:71821707-71821708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113318323	chr7:71821713-71821714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192803503	chr7:71821816-71821817	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144535302	chr7:71821844-71821845	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548027782	chr7:71821868-71821869	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557026016	chr7:71821870-71821871	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148460293	chr7:71821880-71821881	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541315315	chr7:71821896-71821897	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553270605	chr7:71821900-71821901	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9638652	chr7:71821907-71821908	Active TSS Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs539789749	chr7:71821909-71821910	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557984391	chr7:71821927-71821928	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373398387	chr7:71821937-71821938	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145283170	chr7:71821992-71821993	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376371027	chr7:71822005-71822006	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563419762	chr7:71822037-71822038	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75148666	chr7:71822063-71822064	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546167736	chr7:71822088-71822089	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147220268	chr7:71822151-71822152	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528491005	chr7:71822162-71822163	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184445791	chr7:71822172-71822173	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563535562	chr7:71822257-71822258	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs188324606	chr7:71822262-71822263	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs529900182	chr7:71822263-71822264	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs548436236	chr7:71822265-71822266	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs73702927	chr7:71822276-71822277	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs536788296	chr7:71822283-71822284	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs370800722	chr7:71822310-71822311	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs377759886	chr7:71822340-71822341	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs545880791	chr7:71822341-71822342	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs112978174	chr7:71822389-71822390	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs570322564	chr7:71822397-71822398	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs139831023	chr7:71822424-71822425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145345796	chr7:71822439-71822440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572904494	chr7:71822441-71822442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542014732	chr7:71822453-71822454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542053838	chr7:71822465-71822466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573843202	chr7:71822478-71822479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs151049364	chr7:71822479-71822480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575802569	chr7:71822482-71822483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540972852	chr7:71822499-71822500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545931501	chr7:71822534-71822535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564627693	chr7:71822554-71822555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376521462	chr7:71831600-71831601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537304781	chr7:71831605-71831606	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:131)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Williams Syndrome	16773131	CNVD
Breast cancer	16417655	CNVD
Rheumatoid arthritis	21728841	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	18414209	CNVD
Developmental delay	21549014	CNVD
Mental retardation	18414209	CNVD
Mental retardation	21549014	CNVD
Williams Syndrome	16617304	CNVD
Williams Syndrome	20206275	CNVD
Williams Syndrome	16199537	CNVD
Williams Syndrome	18923514	CNVD
Williams Syndrome	20970697	CNVD
Williams-beuren syndrome	20926892	CNVD
Williams-beuren syndrome	21808859	CNVD
periventricular nodular heterotopia	20648244	CNVD
Williams Syndrome	20425783	CNVD
Williams-beuren syndrome	22226172	CNVD
Williams-beuren syndrome	18923513	CNVD
Williams-beuren syndrome	17565757	CNVD
Williams-beuren syndrome	18787571	CNVD
Williams Syndrome	22241247	CNVD
Autism	21686962	CNVD
Autism	20970697	CNVD
Epilepsy	22118685	CNVD
Epilepsy	20970697	CNVD
Mental retardation	19951919	CNVD
Mental retardation	21686962	CNVD
Schizophrenia	22118685	CNVD
Williams-beuren syndrome	18337728	CNVD
language delay	21686962	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
Mental retardation	16773131	CNVD
Colorectal cancer	19455253	CNVD
Williams-beuren syndrome	16971481	CNVD
Idiopathic infantile hypercalcaemia	20466674	CNVD
Williams Syndrome	18308711	CNVD
Williams Syndrome	19255058	CNVD
Williams Syndrome	18924169	CNVD
Williams Syndrome	21939500	CNVD
Williams Syndrome	20425784	CNVD
Williams Syndrome	22241097	CNVD
Williams Syndrome	19176822	CNVD
Williams Syndrome	17505701	CNVD
Supravalvular aortic stenosis	19844261	CNVD
Williams Syndrome	16760918	CNVD
Williams-beuren syndrome	18452001	CNVD
Williams-beuren syndrome	19880526	CNVD
Autism	17666889	CNVD
speech delay	17666889	CNVD
Metanephric adenoma	20802469	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71821600-71822400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:71821800-71822200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:71821800-71822400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:71822000-71822400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:71822200-71822400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:71822200-71822600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr7:71831600-71832000	Enhancers	Fetal Heart	heart
8	chr7:71853800-71854400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:71855600-71858800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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