Variant report

Variant	nsv888261
Chromosome Location	chr7:63412910-63464342
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr7:63444986-63445142	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr7:63419667-63419958	IMR90	lung:	n/a	chr7:63419839-63419852 chr7:63419839-63419852 chr7:63419839-63419852
3	CEBPB	chr7:63423862-63424037	A549	lung:	n/a	n/a
4	CTCF	chr7:63416599-63416655	GM20000	blood:	n/a	n/a
5	CTCF	chr7:63449630-63449665	GM13976	blood:	n/a	n/a
6	CTCF	chr7:63443124-63443155	Medullo	brain:	n/a	n/a
7	CTCF	chr7:63421852-63421954	GM10266	blood:	n/a	n/a
8	CTCF	chr7:63449632-63449691	GM20000	blood:	n/a	n/a
9	EP300	chr7:63426912-63427010	K562	blood:	n/a	chr7:63426950-63426964
10	GATA3	chr7:63429422-63429614	SH-SY5Y	brain:	n/a	n/a
11	GATA3	chr7:63435195-63435395	SH-SY5Y	brain:	n/a	n/a
12	GATA3	chr7:63419680-63419749	SH-SY5Y	brain:	n/a	n/a
13	IRF1	chr7:63464118-63464284	K562	blood:	n/a	chr7:63464241-63464252 chr7:63464240-63464252 chr7:63464240-63464252 chr7:63464240-63464257 chr7:63464237-63464251 chr7:63464241-63464251
14	MAFF	chr7:63429033-63429372	HepG2	liver:	n/a	chr7:63429203-63429221
15	MAFF	chr7:63463327-63463350	K562	blood:	n/a	n/a
16	MAFF	chr7:63436711-63436991	HepG2	liver:	n/a	chr7:63436809-63436827 chr7:63436847-63436865
17	MAFF	chr7:63429091-63429325	K562	blood:	n/a	chr7:63429203-63429221
18	MAFF	chr7:63463252-63463449	HepG2	liver:	n/a	chr7:63463344-63463362
19	MAFK	chr7:63429192-63429228	Hela-S3	cervix:	n/a	n/a
20	MAFK	chr7:63429038-63429364	IMR90	lung:	n/a	chr7:63429177-63429192
21	MAFK	chr7:63463203-63463435	IMR90	lung:	n/a	chr7:63463349-63463360 chr7:63463349-63463360 chr7:63463348-63463362 chr7:63463350-63463361 chr7:63463345-63463360 chr7:63463350-63463361 chr7:63463342-63463358
22	MAFK	chr7:63435563-63435763	HepG2	liver:	n/a	n/a
23	MAFK	chr7:63429024-63429362	HepG2	liver:	n/a	chr7:63429177-63429192
24	MAFK	chr7:63436692-63437034	HepG2	liver:	n/a	chr7:63436810-63436825 chr7:63436849-63436864
25	MAFK	chr7:63429029-63429381	HepG2	liver:	n/a	chr7:63429177-63429192
26	MAFK	chr7:63436715-63437008	HepG2	liver:	n/a	chr7:63436810-63436825 chr7:63436849-63436864
27	MAFK	chr7:63463224-63463451	HepG2	liver:	n/a	chr7:63463349-63463360 chr7:63463349-63463360 chr7:63463348-63463362 chr7:63463350-63463361 chr7:63463345-63463360 chr7:63463350-63463361 chr7:63463342-63463358
28	MAFK	chr7:63463173-63463526	HepG2	liver:	n/a	chr7:63463349-63463360 chr7:63463349-63463360 chr7:63463348-63463362 chr7:63463350-63463361 chr7:63463345-63463360 chr7:63463350-63463361 chr7:63463342-63463358
29	MAX	chr7:63437015-63437087	HepG2	liver:	n/a	n/a
30	MAX	chr7:63461615-63461809	NB4	blood:	n/a	n/a
31	MAZ	chr7:63426676-63426838	HepG2	liver:	n/a	n/a
32	MYC	chr7:63437044-63437068	NB4	blood:	n/a	n/a
33	NFYB	chr7:63427143-63427485	GM12878	blood:	n/a	n/a
34	NFYB	chr7:63458993-63459350	K562	blood:	n/a	chr7:63459142-63459152 chr7:63459140-63459155 chr7:63459171-63459181 chr7:63459140-63459154 chr7:63459168-63459180 chr7:63459169-63459183 chr7:63459169-63459182
35	NRF1	chr7:63454660-63454978	K562	blood:	n/a	n/a
36	POLR2A	chr7:63459740-63459757	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr7:63435624-63435979	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr7:63419918-63420118	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr7:63448901-63449046	GM12878	blood:	n/a	n/a
40	POLR2A	chr7:63422815-63423001	MCF-7	breast:	n/a	n/a
41	POLR2A	chr7:63439299-63439315	GM12878	blood:	n/a	n/a
42	POLR2A	chr7:63436843-63436911	Gliobla	brain:	n/a	n/a
43	POLR2A	chr7:63418352-63418517	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr7:63422912-63422922	MCF-7	breast:	n/a	n/a
45	POLR2A	chr7:63456251-63456342	K562	blood:	n/a	n/a
46	POLR2A	chr7:63425080-63425086	MCF-7	breast:	n/a	n/a
47	POLR2A	chr7:63420956-63421140	MCF10A-Er-Src	breast:	n/a	n/a
48	REST	chr7:63413127-63413499	MCF-7	breast:	n/a	chr7:63413322-63413342 chr7:63413323-63413341 chr7:63413322-63413342 chr7:63413322-63413342 chr7:63413328-63413342
49	RFX5	chr7:63433680-63433984	K562	blood:	n/a	n/a
50	RFX5	chr7:63440145-63440188	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:63463421-63463471	SAEC	small airway:	n/a
2	chr7:63422954-63423004	K562	blood:	n/a
3	chr7:63422954-63423004	Caco-2	colon:	n/a
4	chr7:63422954-63423004	AG09309	skin:	n/a
5	chr7:63422954-63423004	GM06990	blood:	n/a
6	chr7:63463421-63463471	HUVEC	blood vessel:	n/a
7	chr7:63463421-63463471	T-47D	breast:	n/a
8	chr7:63463421-63463471	GM06990	blood:	n/a
9	chr7:63463421-63463471	ProgFib	skin:	n/a
10	chr7:63422954-63423004	HL-60	blood:	n/a
11	chr7:63463421-63463471	NHBE	bronchial:	n/a
12	chr7:63422954-63423004	HRCEpiC	kidney:	n/a
13	chr7:63422954-63423004	ProgFib	skin:	n/a
14	chr7:63463421-63463471	HCM	heart:	n/a
15	chr7:63422954-63423004	AG09319	gingival:	n/a
16	chr7:63463421-63463471	HEK293	kidney:	embryo
17	chr7:63422954-63423004	HEK293	kidney:	embryo
18	chr7:63463421-63463471	HPAEpiC	pulmonary alveolar:	n/a
19	chr7:63422954-63423004	NB4	blood:	n/a
20	chr7:63422954-63423004	SK-N-SH_RA	brain:	n/a
21	chr7:63463421-63463471	HRPEpiC	eye:	n/a
22	chr7:63463421-63463471	ovcar-3	ovarian:	n/a
23	chr7:63463421-63463471	HCPEpiC	choroid plexus:	n/a
24	chr7:63422954-63423004	AG10803	skin:	n/a
25	chr7:63463421-63463471	Caco-2	colon:	n/a
26	chr7:63422954-63423004	BE2_C	brain:	n/a
27	chr7:63422954-63423004	HepG2	liver:	n/a
28	chr7:63422954-63423004	T-47D	breast:	n/a
29	chr7:63463421-63463471	NB4	blood:	n/a
30	chr7:63422954-63423004	NT2-D1	testis:	n/a
31	chr7:63463421-63463471	K562	blood:	n/a
32	chr7:63422954-63423004	ovcar-3	ovarian:	n/a
33	chr7:63463421-63463471	AG04450	lung:	fetal
34	chr7:63422954-63423004	NH-A	brain:	n/a
35	chr7:63422954-63423004	CMK	blood:	n/a
36	chr7:63422954-63423004	HUVEC	blood vessel:	n/a
37	chr7:63463421-63463471	A549	lung:	n/a
38	chr7:63463421-63463471	SK-N-MC	brain:	n/a
39	chr7:63422954-63423004	H1-hESC	embryonic stem cell:	embryo
40	chr7:63463421-63463471	HEEpiC	esophagus:	n/a
41	chr7:63422954-63423004	HAEpiC	amniotic membrane:	n/a
42	chr7:63422954-63423004	HEEpiC	esophagus:	n/a
43	chr7:63463421-63463471	MCF-7	breast:	n/a
44	chr7:63422954-63423004	HIPEpiC	eye:	n/a
45	chr7:63463421-63463471	AoSMC	blood vessel:	n/a
46	chr7:63422954-63423004	GM12878	blood:	n/a
47	chr7:63463421-63463471	SKMC	muscle:	n/a
48	chr7:63422954-63423004	MCF10A-Er-Src	breast:	n/a
49	chr7:63422954-63423004	SK-N-MC	brain:	n/a
50	chr7:63463421-63463471	H1-hESC	embryonic stem cell:	embryo

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:111745047..111747825-chr7:63450719..63453167,2	MCF-7	breast:
2	chr7:63439934..63442884-chr7:63443122..63445565,2	MCF-7	breast:

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

Variant related genes	Relation type
VN1R35P	TF binding region
ENSG00000241149	TF binding region
VN1R36P	TF binding region
ENSG00000176232	TF binding region
VN1R35P	CpG island
ENSG00000241149	CpG island
VN1R36P	CpG island
ENSG00000176232	CpG island
ENSG00000176232	chromatin interactions
ENSG00000162777	chromatin interactions

Extended variants
information (count: 351 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:351 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10215117	chr7:63412910-63412911	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530835325	chr7:63412916-63412917	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs564008290	chr7:63412938-63412939	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs202239599	chr7:63412968-63412969	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs567457407	chr7:63412977-63412978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs529962486	chr7:63413011-63413012	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs181655415	chr7:63413071-63413072	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs148420266	chr7:63413077-63413078	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs538629983	chr7:63413080-63413081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs142574884	chr7:63413117-63413118	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs151077208	chr7:63413148-63413149	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs549640273	chr7:63413180-63413181	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs17840377	chr7:63413183-63413184	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs554891523	chr7:63413185-63413186	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs75130089	chr7:63413198-63413199	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs546367855	chr7:63413201-63413202	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs540462739	chr7:63413246-63413247	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs552614033	chr7:63413265-63413266	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs62464469	chr7:63413333-63413334	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs144916622	chr7:63413365-63413366	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs534614047	chr7:63413366-63413367	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs77941047	chr7:63413367-63413368	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs76269904	chr7:63413369-63413370	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs147969228	chr7:63413414-63413415	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs372476524	chr7:63413430-63413431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs141520498	chr7:63413470-63413471	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs544490983	chr7:63413499-63413500	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs561193667	chr7:63413509-63413510	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs529900118	chr7:63413547-63413548	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs546838164	chr7:63413551-63413552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs75489856	chr7:63413572-63413573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs532648689	chr7:63413580-63413581	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs552432856	chr7:63413604-63413605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs552525779	chr7:63413614-63413615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs569233571	chr7:63413703-63413704	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs574817502	chr7:63413715-63413716	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs548459916	chr7:63413732-63413733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs56746776	chr7:63413765-63413766	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs534095326	chr7:63413780-63413781	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs377035599	chr7:63413855-63413856	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs553945617	chr7:63413887-63413888	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs75073060	chr7:63413909-63413910	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs370014308	chr7:63413917-63413918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs77310565	chr7:63413930-63413931	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs575154834	chr7:63413936-63413937	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs544259735	chr7:63413946-63413947	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs561138392	chr7:63413950-63413951	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs147044496	chr7:63413975-63413976	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs75736125	chr7:63414047-63414048	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs184057730	chr7:63414064-63414065	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	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:4 , 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
2	chr7:63436600-63437000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:63445200-63445600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr7:63461400-63461600	ZNF genes & repeats	Duodenum Mucosa	Duodenum

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