Variant report

Variant	nsv966747
Chromosome Location	chr7:3374201-3384313
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:3378061-3378112	LNCaP	prostate:	n/a	n/a
2	E2F6	chr7:3375654-3376089	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr7:3375590-3376171	H1-hESC	embryonic stem cell:	n/a	n/a
4	GATA3	chr7:3383466-3383640	SH-SY5Y	brain:	n/a	n/a
5	JUND	chr7:3381078-3381295	HepG2	liver:	n/a	n/a
6	MAX	chr7:3375616-3376195	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr7:3375708-3376049	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr7:3374228-3374231	NB4	blood:	n/a	n/a
9	MAX	chr7:3375627-3376173	H1-hESC	embryonic stem cell:	n/a	n/a
10	MXI1	chr7:3375932-3376010	H1-hESC	embryonic stem cell:	n/a	n/a
11	MYC	chr7:3374136-3374245	MCF-7	breast:	n/a	chr7:3374234-3374244
12	MYC	chr7:3376128-3376182	MCF-7	breast:	n/a	n/a
13	MYC	chr7:3375997-3376103	MCF-7	breast:	n/a	n/a
14	MYC	chr7:3376435-3376443	MCF-7	breast:	n/a	n/a
15	MYC	chr7:3376349-3376413	MCF-7	breast:	n/a	n/a
16	POLR2A	chr7:3376039-3376051	A549	lung:	n/a	n/a
17	POLR2A	chr7:3376158-3376194	MCF-7	breast:	n/a	n/a
18	POLR2A	chr7:3376198-3376249	Gliobla	brain:	n/a	n/a
19	POLR2A	chr7:3380525-3380819	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr7:3374063-3374286	MCF-7	breast:	n/a	n/a
21	POLR2A	chr7:3376051-3376113	MCF-7	breast:	n/a	n/a
22	POLR2A	chr7:3377958-3377985	Gliobla	brain:	n/a	n/a
23	POLR2A	chr7:3376004-3376147	MCF-7	breast:	n/a	n/a
24	POLR2A	chr7:3375988-3376097	ProgFib	skin:	n/a	n/a
25	SIN3A	chr7:3375773-3376037	H1-hESC	embryonic stem cell:	n/a	n/a
26	TCF7L2	chr7:3383394-3383749	PANC-1	pancreas:	n/a	n/a
27	UBTF	chr7:3374971-3374987	K562	blood:	n/a	n/a
28	UBTF	chr7:3379081-3379227	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:3375859-3375909	T-47D	breast:	n/a
2	chr7:3375859-3375909	HRPEpiC	eye:	n/a
3	chr7:3375859-3375909	HEK293	kidney:	embryo
4	chr7:3375859-3375909	HCPEpiC	choroid plexus:	n/a
5	chr7:3375859-3375909	HCT-116	colon:	n/a
6	chr7:3375859-3375909	GM12878	blood:	n/a
7	chr7:3375859-3375909	HCM	heart:	n/a
8	chr7:3375859-3375909	HNPCEpiC	eye:	n/a
9	chr7:3375859-3375909	NHBE	bronchial:	n/a
10	chr7:3375859-3375909	NHDF-neo	bronchial:	n/a
11	chr7:3375859-3375909	Hepatocyte	liver:	n/a
12	chr7:3375859-3375909	ECC-1	luminal epithelium:	n/a
13	chr7:3375859-3375909	A549	lung:	n/a
14	chr7:3375859-3375909	SK-N-SH	brain:	n/a
15	chr7:3375859-3375909	AG10803	skin:	n/a
16	chr7:3375859-3375909	IMR90	lung:	fetal
17	chr7:3375859-3375909	NH-A	brain:	n/a
18	chr7:3375859-3375909	HMEC	breast:	n/a
19	chr7:3375859-3375909	GM19239	blood:	n/a
20	chr7:3375859-3375909	U87	brain:	n/a
21	chr7:3375859-3375909	HepG2	liver:	n/a
22	chr7:3375859-3375909	GM06990	blood:	n/a
23	chr7:3375859-3375909	SAEC	small airway:	n/a
24	chr7:3375859-3375909	H1-hESC	embryonic stem cell:	embryo
25	chr7:3375859-3375909	HL-60	blood:	n/a
26	chr7:3375859-3375909	SK-N-MC	brain:	n/a
27	chr7:3375859-3375909	AG04449	skin:	fetal
28	chr7:3375859-3375909	RPTEC	kidney:	n/a
29	chr7:3375859-3375909	AG09309	skin:	n/a
30	chr7:3375859-3375909	GM12891	blood:	n/a
31	chr7:3375859-3375909	PrEC	prostate:	n/a
32	chr7:3375859-3375909	SKMC	muscle:	n/a
33	chr7:3375859-3375909	HUVEC	blood vessel:	n/a
34	chr7:3375859-3375909	CMK	blood:	n/a
35	chr7:3375859-3375909	HCF	heart:	n/a
36	chr7:3375859-3375909	HRCEpiC	kidney:	n/a
37	chr7:3375859-3375909	NB4	blood:	n/a
38	chr7:3375859-3375909	Caco-2	colon:	n/a
39	chr7:3375859-3375909	PFSK-1	brain:	n/a
40	chr7:3375859-3375909	AoSMC	blood vessel:	n/a
41	chr7:3375859-3375909	HPAEpiC	pulmonary alveolar:	n/a
42	chr7:3375859-3375909	AG04450	lung:	fetal
43	chr7:3375859-3375909	GM12892	blood:	n/a
44	chr7:3375859-3375909	AG09319	gingival:	n/a
45	chr7:3375859-3375909	HRE	kidney:	n/a
46	chr7:3375859-3375909	HIPEpiC	eye:	n/a
47	chr7:3375859-3375909	ProgFib	skin:	n/a
48	chr7:3375859-3375909	BE2_C	brain:	n/a
49	chr7:3375859-3375909	PANC-1	pancreas:	n/a
50	chr7:3375859-3375909	ovcar-3	ovarian:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr7:3379742..3382229-chr7:3382243..3386040,3	K562	blood:
2	chr7:3378023..3380579-chr7:3388510..3390019,2	MCF-7	breast:
3	chr7:3379742..3382229-chr7:3382243..3386040,3	K562	blood:
4	chr7:3381518..3384288-chr7:3389563..3392329,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AMZ1-7	chr7:3377521-3378121	NONHSAT118850
2	lnc-AMZ1-7	chr7:3377758-3378233	NONHSAT118851

No data

Variant related genes	Relation type
ENSG00000224593	TF binding region
ENSG00000224593	CpG island

Extended variants
information (count: 562 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:562 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75788702	chr7:3374207-3374208	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs77241124	chr7:3374231-3374232	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs534523264	chr7:3374256-3374257	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs554200673	chr7:3374275-3374276	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs574199301	chr7:3374283-3374284	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs4722693	chr7:3374312-3374313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs117422186	chr7:3374332-3374333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576794198	chr7:3374363-3374364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111507771	chr7:3374430-3374431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142274048	chr7:3374442-3374443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146388861	chr7:3374475-3374476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4722695	chr7:3374496-3374497	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs541278941	chr7:3374510-3374511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560620039	chr7:3374551-3374552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556172330	chr7:3374573-3374574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4722696	chr7:3374580-3374581	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs186862071	chr7:3374588-3374589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541470949	chr7:3374600-3374601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532273923	chr7:3374606-3374607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376624733	chr7:3374633-3374634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79933008	chr7:3374635-3374636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191751130	chr7:3374648-3374649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542623401	chr7:3374657-3374658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139367715	chr7:3374669-3374670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73046694	chr7:3374671-3374672	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs73290052	chr7:3374681-3374682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs374709014	chr7:3374690-3374691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183529730	chr7:3374692-3374693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576457248	chr7:3374787-3374788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538664427	chr7:3374795-3374796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115632478	chr7:3374808-3374809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4236325	chr7:3374848-3374849	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs541589178	chr7:3374856-3374857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73046696	chr7:3374875-3374876	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs150028723	chr7:3374882-3374883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115096815	chr7:3374889-3374890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563049488	chr7:3374905-3374906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577808519	chr7:3374920-3374921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532093988	chr7:3374921-3374922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114047216	chr7:3374927-3374928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559570223	chr7:3374942-3374943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528404525	chr7:3374943-3374944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548389479	chr7:3374995-3374996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144949294	chr7:3375022-3375023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188061205	chr7:3375037-3375038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537246330	chr7:3375038-3375039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs5881977	chr7:3375053-3375054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369808673	chr7:3375065-3375066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs60433837	chr7:3375066-3375067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201090624	chr7:3375069-3375070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	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
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Nasopharyngeal cancer	20548289	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3359000-3385800	Weak transcription	Pancreas	Pancrea
2	chr7:3363400-3377800	Weak transcription	Aorta	Aorta
3	chr7:3373200-3377400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:3373400-3375600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:3373400-3378200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:3374200-3375600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:3375400-3376200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr7:3375600-3376000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:3375600-3376000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:3375600-3376000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:3375600-3376000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:3375600-3376200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:3375800-3376200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr7:3375800-3376200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:3375800-3376600	Enhancers	Esophagus	oesophagus
16	chr7:3376000-3376200	Enhancers	Left Ventricle	heart
17	chr7:3376200-3385800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:3377200-3378200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:3377400-3378400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr7:3377400-3378600	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr7:3377800-3378200	Enhancers	Aorta	Aorta
22	chr7:3378600-3383200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr7:3383200-3384200	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr7:3384200-3389800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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