Variant report

Variant	nsv970797
Chromosome Location	chr7:12510858-12512751
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr7:12512601-12512688	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr7:12510724-12510865	A549	lung:	n/a	n/a
3	SPI1	chr7:12511992-12512221	K562	blood:	n/a	n/a
4	SPI1	chr7:12512044-12512216	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:12510863-12510913	HepG2	liver:	n/a
2	chr7:12510863-12510913	NH-A	brain:	n/a
3	chr7:12510863-12510913	HIPEpiC	eye:	n/a
4	chr7:12510863-12510913	HUVEC	blood vessel:	n/a
5	chr7:12510863-12510913	NB4	blood:	n/a
6	chr7:12510863-12510913	ECC-1	luminal epithelium:	n/a
7	chr7:12510863-12510913	GM12891	blood:	n/a
8	chr7:12510863-12510913	NHBE	bronchial:	n/a
9	chr7:12510863-12510913	RPTEC	kidney:	n/a
10	chr7:12510863-12510913	HNPCEpiC	eye:	n/a
11	chr7:12510863-12510913	AG09319	gingival:	n/a
12	chr7:12510863-12510913	H1-hESC	embryonic stem cell:	embryo
13	chr7:12510863-12510913	BE2_C	brain:	n/a
14	chr7:12510863-12510913	HCT-116	colon:	n/a
15	chr7:12510863-12510913	AG09309	skin:	n/a
16	chr7:12510863-12510913	AoSMC	blood vessel:	n/a
17	chr7:12510863-12510913	IMR90	lung:	fetal
18	chr7:12510863-12510913	HCPEpiC	choroid plexus:	n/a
19	chr7:12510863-12510913	HRPEpiC	eye:	n/a
20	chr7:12510863-12510913	NT2-D1	testis:	n/a
21	chr7:12510863-12510913	Caco-2	colon:	n/a
22	chr7:12510863-12510913	HPAEpiC	pulmonary alveolar:	n/a
23	chr7:12510863-12510913	GM12892	blood:	n/a
24	chr7:12510863-12510913	NHDF-neo	bronchial:	n/a
25	chr7:12510863-12510913	SK-N-SH_RA	brain:	n/a
26	chr7:12510863-12510913	MCF-7	breast:	n/a
27	chr7:12510863-12510913	HAEpiC	amniotic membrane:	n/a
28	chr7:12510863-12510913	PFSK-1	brain:	n/a
29	chr7:12510863-12510913	Hepatocyte	liver:	n/a
30	chr7:12510863-12510913	HEEpiC	esophagus:	n/a
31	chr7:12510863-12510913	AG04449	skin:	fetal
32	chr7:12510863-12510913	PANC-1	pancreas:	n/a
33	chr7:12510863-12510913	AG04450	lung:	fetal
34	chr7:12510863-12510913	GM06990	blood:	n/a
35	chr7:12510863-12510913	SK-N-MC	brain:	n/a
36	chr7:12510863-12510913	SK-N-SH	brain:	n/a
37	chr7:12510863-12510913	PrEC	prostate:	n/a
38	chr7:12510863-12510913	HRCEpiC	kidney:	n/a
39	chr7:12510863-12510913	SKMC	muscle:	n/a
40	chr7:12510863-12510913	HEK293	kidney:	embryo
41	chr7:12510863-12510913	BJ	skin:	n/a
42	chr7:12510863-12510913	Hela-S3	cervix:	n/a
43	chr7:12510863-12510913	HL-60	blood:	n/a
44	chr7:12510863-12510913	T-47D	breast:	n/a
45	chr7:12510863-12510913	ovcar-3	ovarian:	n/a
46	chr7:12510863-12510913	HMEC	breast:	n/a
47	chr7:12510863-12510913	LNCaP	prostate:	n/a
48	chr7:12510863-12510913	SAEC	small airway:	n/a
49	chr7:12510863-12510913	ProgFib	skin:	n/a
50	chr7:12510863-12510913	A549	lung:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr7:12511799..12514210-chr7:12517629..12520508,2	K562	blood:
2	chr7:12511799..12515284-chr7:12517629..12521714,3	K562	blood:
3	chr7:12438246..12440772-chr7:12512038..12514677,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000236048	TF binding region
ENSG00000236048	CpG island

Extended variants
information (count: 96 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535610964	chr7:12510867-12510868	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs182025698	chr7:12510895-12510896	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs540348224	chr7:12510898-12510899	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs572083558	chr7:12510901-12510902	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs3735183	chr7:12510929-12510930	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs146205239	chr7:12510935-12510936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185023572	chr7:12510936-12510937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113706722	chr7:12511012-12511013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563609488	chr7:12511033-12511034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs3735182	chr7:12511037-12511038	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs559639472	chr7:12511049-12511050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113317119	chr7:12511057-12511058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528579533	chr7:12511086-12511087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188569232	chr7:12511094-12511095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551545427	chr7:12511108-12511109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs3735181	chr7:12511109-12511110	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs531631949	chr7:12511143-12511144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530898514	chr7:12511153-12511154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181360490	chr7:12511157-12511158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12699379	chr7:12511173-12511174	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs185441186	chr7:12511207-12511208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111998856	chr7:12511214-12511215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565677976	chr7:12511265-12511266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527629389	chr7:12511274-12511275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11275	chr7:12511312-12511313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs557519204	chr7:12511325-12511326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188295282	chr7:12511336-12511337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536613260	chr7:12511356-12511357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs180789458	chr7:12511411-12511412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573993431	chr7:12511412-12511413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371672392	chr7:12511456-12511457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187565447	chr7:12511461-12511462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573310792	chr7:12511464-12511465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149871996	chr7:12511521-12511522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61747732	chr7:12511524-12511525	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs73678391	chr7:12511532-12511533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541734109	chr7:12511545-12511546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183690586	chr7:12511556-12511557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71030507	chr7:12511561-12511562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371615808	chr7:12511562-12511563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186273050	chr7:12511678-12511679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529192681	chr7:12511692-12511693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148582707	chr7:12511730-12511731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376387239	chr7:12511748-12511749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369198764	chr7:12511763-12511764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565867631	chr7:12511772-12511773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528242168	chr7:12511787-12511788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370075935	chr7:12511789-12511790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190593646	chr7:12511791-12511792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373740388	chr7:12511794-12511795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	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
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12510800-12515000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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