Variant report

Variant	nsv971136
Chromosome Location	chr7:63412967-63426402
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:62)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:63419667-63419958	IMR90	lung:	n/a	chr7:63419839-63419852 chr7:63419839-63419852 chr7:63419839-63419852
2	CEBPB	chr7:63423862-63424037	A549	lung:	n/a	n/a
3	CTCF	chr7:63421852-63421954	GM10266	blood:	n/a	n/a
4	CTCF	chr7:63416599-63416655	GM20000	blood:	n/a	n/a
5	GATA3	chr7:63419680-63419749	SH-SY5Y	brain:	n/a	n/a
6	POLR2A	chr7:63418352-63418517	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr7:63422912-63422922	MCF-7	breast:	n/a	n/a
8	POLR2A	chr7:63419918-63420118	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr7:63420956-63421140	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr7:63425080-63425086	MCF-7	breast:	n/a	n/a
11	POLR2A	chr7:63422815-63423001	MCF-7	breast:	n/a	n/a
12	REST	chr7:63413127-63413499	MCF-7	breast:	n/a	chr7:63413322-63413342 chr7:63413323-63413341 chr7:63413322-63413342 chr7:63413322-63413342 chr7:63413328-63413342

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:63422954-63423004	HUVEC	blood vessel:	n/a
2	chr7:63422954-63423004	HUVEC	blood vessel:	n/a
3	chr7:63422954-63423004	HRCEpiC	kidney:	n/a
4	chr7:63422954-63423004	AG10803	skin:	n/a
5	chr7:63422954-63423004	HCM	heart:	n/a
6	chr7:63422954-63423004	H1-hESC	embryonic stem cell:	embryo
7	chr7:63422954-63423004	GM19239	blood:	n/a
8	chr7:63422954-63423004	AG04449	skin:	fetal
9	chr7:63422954-63423004	HCPEpiC	choroid plexus:	n/a
10	chr7:63422954-63423004	SAEC	small airway:	n/a
11	chr7:63422954-63423004	HAEpiC	amniotic membrane:	n/a
12	chr7:63422954-63423004	GM06990	blood:	n/a
13	chr7:63422954-63423004	HIPEpiC	eye:	n/a
14	chr7:63422954-63423004	CMK	blood:	n/a
15	chr7:63422954-63423004	HepG2	liver:	n/a
16	chr7:63422954-63423004	HCT-116	colon:	n/a
17	chr7:63422954-63423004	MCF10A-Er-Src	breast:	n/a
18	chr7:63422954-63423004	HL-60	blood:	n/a
19	chr7:63422954-63423004	ProgFib	skin:	n/a
20	chr7:63422954-63423004	NHDF-neo	bronchial:	n/a
21	chr7:63422954-63423004	HEEpiC	esophagus:	n/a
22	chr7:63422954-63423004	NHBE	bronchial:	n/a
23	chr7:63422954-63423004	AG04450	lung:	fetal
24	chr7:63422954-63423004	Hepatocyte	liver:	n/a
25	chr7:63422954-63423004	A549	lung:	n/a
26	chr7:63422954-63423004	LNCaP	prostate:	n/a
27	chr7:63422954-63423004	NT2-D1	testis:	n/a
28	chr7:63422954-63423004	GM12878	blood:	n/a
29	chr7:63422954-63423004	GM12891	blood:	n/a
30	chr7:63422954-63423004	BE2_C	brain:	n/a
31	chr7:63422954-63423004	K562	blood:	n/a
32	chr7:63422954-63423004	SK-N-MC	brain:	n/a
33	chr7:63422954-63423004	IMR90	lung:	fetal
34	chr7:63422954-63423004	T-47D	breast:	n/a
35	chr7:63422954-63423004	HRPEpiC	eye:	n/a
36	chr7:63422954-63423004	SKMC	muscle:	n/a
37	chr7:63422954-63423004	PANC-1	pancreas:	n/a
38	chr7:63422954-63423004	AG09309	skin:	n/a
39	chr7:63422954-63423004	PrEC	prostate:	n/a
40	chr7:63422954-63423004	HPAEpiC	pulmonary alveolar:	n/a
41	chr7:63422954-63423004	HEK293	kidney:	embryo
42	chr7:63422954-63423004	HMEC	breast:	n/a
43	chr7:63422954-63423004	BJ	skin:	n/a
44	chr7:63422954-63423004	NH-A	brain:	n/a
45	chr7:63422954-63423004	PFSK-1	brain:	n/a
46	chr7:63422954-63423004	HCF	heart:	n/a
47	chr7:63422954-63423004	AoSMC	blood vessel:	n/a
48	chr7:63422954-63423004	GM12892	blood:	n/a
49	chr7:63422954-63423004	U87	brain:	n/a
50	chr7:63422954-63423004	ovcar-3	ovarian:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF680-27	chr7:63426212-63426502	NONHSAT120964

No data

Variant related genes	Relation type
VN1R35P	TF binding region
VN1R35P	CpG island

Extended variants
information (count: 60 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202239599	chr7:63412968-63412969	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs567457407	chr7:63412977-63412978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs529962486	chr7:63413011-63413012	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs181655415	chr7:63413071-63413072	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs148420266	chr7:63413077-63413078	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs538629983	chr7:63413080-63413081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs142574884	chr7:63413117-63413118	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs151077208	chr7:63413148-63413149	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs549640273	chr7:63413180-63413181	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs17840377	chr7:63413183-63413184	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs554891523	chr7:63413185-63413186	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs75130089	chr7:63413198-63413199	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs546367855	chr7:63413201-63413202	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs540462739	chr7:63413246-63413247	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs552614033	chr7:63413265-63413266	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs62464469	chr7:63413333-63413334	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs144916622	chr7:63413365-63413366	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs534614047	chr7:63413366-63413367	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs77941047	chr7:63413367-63413368	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs76269904	chr7:63413369-63413370	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs147969228	chr7:63413414-63413415	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs372476524	chr7:63413430-63413431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs141520498	chr7:63413470-63413471	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs544490983	chr7:63413499-63413500	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs561193667	chr7:63413509-63413510	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs529900118	chr7:63413547-63413548	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs546838164	chr7:63413551-63413552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs75489856	chr7:63413572-63413573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs532648689	chr7:63413580-63413581	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs552432856	chr7:63413604-63413605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs552525779	chr7:63413614-63413615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs569233571	chr7:63413703-63413704	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs574817502	chr7:63413715-63413716	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs548459916	chr7:63413732-63413733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs56746776	chr7:63413765-63413766	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs534095326	chr7:63413780-63413781	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs377035599	chr7:63413855-63413856	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs553945617	chr7:63413887-63413888	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs75073060	chr7:63413909-63413910	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs370014308	chr7:63413917-63413918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs77310565	chr7:63413930-63413931	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs575154834	chr7:63413936-63413937	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs544259735	chr7:63413946-63413947	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs561138392	chr7:63413950-63413951	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs147044496	chr7:63413975-63413976	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs75736125	chr7:63414047-63414048	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs184057730	chr7:63414064-63414065	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs188807907	chr7:63414065-63414066	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs552621694	chr7:63414085-63414086	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs73700112	chr7:63414104-63414105	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
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
Hodgkin''s lymphoma	18641027	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
Glioblastoma	21080181	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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:63412800-63414200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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