Variant report

Variant	nsv970837
Chromosome Location	chr7:55939977-55950762
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr7:55941244-55941337	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr7:55941184-55941327	MCF10A-Er-Src	breast:	n/a	n/a
3	MAX	chr7:55942840-55943060	K562	blood:	n/a	chr7:55942952-55942962
4	MAX	chr7:55942942-55943029	NB4	blood:	n/a	chr7:55942952-55942962
5	PAX5	chr7:55948876-55949056	GM12878	blood:	n/a	n/a
6	RXRA	chr7:55948083-55948266	HepG2	liver:	n/a	n/a
7	ZNF384	chr7:55940991-55941268	K562	blood:	n/a	n/a
8	ZNF384	chr7:55946538-55946622	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:55940193..55941768-chr7:55944994..55947010,2	K562	blood:
2	chr7:55942266..55944543-chr7:56030411..56032655,2	K562	blood:
3	chr7:55950610..55953482-chr7:55955166..55956775,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEPT14-1	chr7:55944431-55944717	NONHSAT120707
2	lnc-RP11-15K19.2.1-1	chr7:55945605-55945857	NONHSAT120708

No data

Variant related genes	Relation type
ENSG00000225018	TF binding region
ZNF713	TF binding region
ENSG00000249773	TF binding region
ENSG00000227499	TF binding region
ENSG00000146729	chromatin interactions
ENSG00000178665	chromatin interactions
ENSG00000227499	chromatin interactions

Extended variants
information (count: 207 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:207 , 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	rs191674219	chr7:55940196-55940197	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs373976574	chr7:55940234-55940235	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs548635198	chr7:55940256-55940257	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs567029731	chr7:55940257-55940258	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs200723422	chr7:55940313-55940314	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs201434971	chr7:55940323-55940324	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs552817688	chr7:55940374-55940375	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs376897550	chr7:55940375-55940376	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs370163052	chr7:55940412-55940413	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs538391477	chr7:55940422-55940423	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs556515052	chr7:55940423-55940424	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs568400377	chr7:55940496-55940497	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs73358418	chr7:55940636-55940637	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs184582868	chr7:55940651-55940652	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs34785457	chr7:55940725-55940726	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs572818119	chr7:55940801-55940802	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs573594486	chr7:55940887-55940888	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs189206072	chr7:55940898-55940899	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs148533499	chr7:55940942-55940943	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs113988852	chr7:55940944-55940945	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs55874325	chr7:55940947-55940948	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs558503038	chr7:55940956-55940957	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs562489189	chr7:55940994-55940995	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs112529900	chr7:55941007-55941008	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs541518881	chr7:55941011-55941012	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs541829013	chr7:55941012-55941013	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs186585563	chr7:55941013-55941014	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs34134954	chr7:55941026-55941027	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs56184131	chr7:55941066-55941067	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs77158547	chr7:55941067-55941068	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs13233754	chr7:55941077-55941078	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs150657329	chr7:55941081-55941082	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs367668789	chr7:55941095-55941096	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs544016729	chr7:55941113-55941114	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs571099663	chr7:55941145-55941146	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs202042550	chr7:55941166-55941167	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs200005454	chr7:55941167-55941168	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs531827831	chr7:55941206-55941207	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs564197377	chr7:55941224-55941225	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs190343475	chr7:55941286-55941287	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs533233537	chr7:55941314-55941315	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs370580361	chr7:55941321-55941322	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs568562213	chr7:55941330-55941331	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs535449060	chr7:55941373-55941374	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs554147668	chr7:55941410-55941411	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs112787736	chr7:55941427-55941428	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs566384134	chr7:55941438-55941439	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs533880250	chr7:55941465-55941466	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs76994453	chr7:55941468-55941469	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs566855970	chr7:55941483-55941484	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Wilms tumour	21544195	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	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
Esophageal squamous carcinoma	21637470	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
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
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Intracranial ependymoma	16609018	CNVD
Lung cancer	21911935	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17925434	CNVD
Glioma	24330732	CNVD
Lung adenocarcinoma	23938291	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Glioblastoma multiforme	19115005	CNVD
Breast cancer	17142309	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:55942200-55943000	Enhancers	Pancreas	Pancrea
2	chr7:55946400-55947000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr7:55947000-55947400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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