Variant report

Variant	nsv607088
Chromosome Location	chr7:57638100-57669986
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:74)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:74 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr7:57667657-57667934	GM12878	blood:	n/a	n/a
2	BATF	chr7:57667672-57667890	GM12878	blood:	n/a	n/a
3	BATF	chr7:57650647-57650907	GM12878	blood:	n/a	n/a
4	BRCA1	chr7:57651407-57651453	HepG2	liver:	n/a	n/a
5	CEBPB	chr7:57659472-57659639	K562	blood:	n/a	n/a
6	CTCF	chr7:57651480-57651630	AG10803	skin:	n/a	n/a
7	CTCF	chr7:57658368-57658452	LNCaP	prostate:	n/a	n/a
8	CTCF	chr7:57639960-57639971	MCF-7	breast:	n/a	n/a
9	EBF1	chr7:57650736-57650910	GM12878	blood:	n/a	n/a
10	EBF1	chr7:57650732-57650966	GM12878	blood:	n/a	n/a
11	GATA2	chr7:57659363-57659642	K562	blood:	n/a	n/a
12	GATA3	chr7:57639082-57639419	T-47D	breast:	n/a	n/a
13	GATA3	chr7:57639115-57639486	T-47D	breast:	n/a	n/a
14	HEY1	chr7:57639142-57640026	K562	blood:	n/a	n/a
15	HEY1	chr7:57638564-57641805	K562	blood:	n/a	n/a
16	HEY1	chr7:57650740-57650912	K562	blood:	n/a	n/a
17	HEY1	chr7:57658300-57658510	K562	blood:	n/a	n/a
18	HEY1	chr7:57643025-57643618	K562	blood:	n/a	n/a
19	HEY1	chr7:57639551-57639918	HepG2	liver:	n/a	n/a
20	HEY1	chr7:57642339-57642528	K562	blood:	n/a	n/a
21	HEY1	chr7:57640059-57640327	K562	blood:	n/a	n/a
22	HEY1	chr7:57639598-57639784	HepG2	liver:	n/a	n/a
23	HEY1	chr7:57639328-57639547	HepG2	liver:	n/a	n/a
24	HEY1	chr7:57637926-57638533	K562	blood:	n/a	n/a
25	HEY1	chr7:57639247-57639546	HepG2	liver:	n/a	n/a
26	HEY1	chr7:57640805-57641205	K562	blood:	n/a	n/a
27	IRF1	chr7:57639358-57639554	K562	blood:	n/a	n/a
28	MYC	chr7:57639911-57639991	MCF-7	breast:	n/a	n/a
29	MYC	chr7:57639360-57639392	K562	blood:	n/a	n/a
30	NFYB	chr7:57639348-57639574	K562	blood:	n/a	n/a
31	PML	chr7:57639199-57639459	K562	blood:	n/a	n/a
32	POLR2A	chr7:57639195-57639433	K562	blood:	n/a	n/a
33	POLR2A	chr7:57639211-57639436	K562	blood:	n/a	n/a
34	POLR2A	chr7:57638670-57639055	K562	blood:	n/a	n/a
35	POLR2A	chr7:57639623-57639784	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr7:57639264-57639538	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr7:57639881-57640103	Gliobla	brain:	n/a	n/a
38	POLR2A	chr7:57639742-57639749	A549	lung:	n/a	n/a
39	POLR2A	chr7:57639914-57639972	MCF-7	breast:	n/a	n/a
40	POLR2A	chr7:57641279-57641291	Gliobla	brain:	n/a	n/a
41	POLR2A	chr7:57639244-57639498	K562	blood:	n/a	n/a
42	POLR2A	chr7:57637939-57638223	K562	blood:	n/a	n/a
43	POLR2A	chr7:57639858-57639882	A549	lung:	n/a	n/a
44	POLR2A	chr7:57639862-57639864	Gliobla	brain:	n/a	n/a
45	POLR2A	chr7:57639207-57639431	K562	blood:	n/a	n/a
46	POLR2A	chr7:57639181-57639761	K562	blood:	n/a	n/a
47	POLR2A	chr7:57638035-57638255	K562	blood:	n/a	n/a
48	POLR2A	chr7:57639182-57639921	K562	blood:	n/a	n/a
49	POLR2A	chr7:57639789-57639807	A549	lung:	n/a	n/a
50	POLR2A	chr7:57639851-57639856	A549	lung:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:57639299-57639349	GM12892	blood:	n/a
2	chr7:57639360-57639410	SAEC	small airway:	n/a
3	chr7:57639252-57639302	SK-N-MC	brain:	n/a
4	chr7:57639299-57639349	HPAEpiC	pulmonary alveolar:	n/a
5	chr7:57639252-57639302	HNPCEpiC	eye:	n/a
6	chr7:57639252-57639302	GM12891	blood:	n/a
7	chr7:57639360-57639410	HAEpiC	amniotic membrane:	n/a
8	chr7:57639252-57639302	H1-hESC	embryonic stem cell:	embryo
9	chr7:57639252-57639302	SK-N-SH	brain:	n/a
10	chr7:57639360-57639410	PFSK-1	brain:	n/a
11	chr7:57639252-57639302	CMK	blood:	n/a
12	chr7:57639299-57639349	HCM	heart:	n/a
13	chr7:57639299-57639349	IMR90	lung:	fetal
14	chr7:57639360-57639410	IMR90	lung:	fetal
15	chr7:57639299-57639349	HRCEpiC	kidney:	n/a
16	chr7:57639299-57639349	PFSK-1	brain:	n/a
17	chr7:57639252-57639302	IMR90	lung:	fetal
18	chr7:57639360-57639410	MCF-7	breast:	n/a
19	chr7:57639299-57639349	T-47D	breast:	n/a
20	chr7:57639360-57639410	ECC-1	luminal epithelium:	n/a
21	chr7:57639252-57639302	K562	blood:	n/a
22	chr7:57639299-57639349	Jurkat	blood:	n/a
23	chr7:57639299-57639349	HAEpiC	amniotic membrane:	n/a
24	chr7:57639360-57639410	SK-N-MC	brain:	n/a
25	chr7:57639360-57639410	HepG2	liver:	n/a
26	chr7:57639252-57639302	NHBE	bronchial:	n/a
27	chr7:57639252-57639302	Caco-2	colon:	n/a
28	chr7:57639252-57639302	ovcar-3	ovarian:	n/a
29	chr7:57639299-57639349	HCF	heart:	n/a
30	chr7:57639360-57639410	U87	brain:	n/a
31	chr7:57639299-57639349	NT2-D1	testis:	n/a
32	chr7:57639299-57639349	NH-A	brain:	n/a
33	chr7:57639299-57639349	LNCaP	prostate:	n/a
34	chr7:57639360-57639410	AG10803	skin:	n/a
35	chr7:57639252-57639302	BE2_C	brain:	n/a
36	chr7:57639299-57639349	AG10803	skin:	n/a
37	chr7:57639252-57639302	GM12892	blood:	n/a
38	chr7:57639252-57639302	NT2-D1	testis:	n/a
39	chr7:57639299-57639349	Hela-S3	cervix:	n/a
40	chr7:57639360-57639410	AoSMC	blood vessel:	n/a
41	chr7:57639299-57639349	MCF10A-Er-Src	breast:	n/a
42	chr7:57639360-57639410	AG09319	gingival:	n/a
43	chr7:57639299-57639349	CMK	blood:	n/a
44	chr7:57639252-57639302	Jurkat	blood:	n/a
45	chr7:57639299-57639349	HUVEC	blood vessel:	n/a
46	chr7:57639299-57639349	GM12878	blood:	n/a
47	chr7:57639360-57639410	T-47D	breast:	n/a
48	chr7:57639252-57639302	HCF	heart:	n/a
49	chr7:57639360-57639410	Hela-S3	cervix:	n/a
50	chr7:57639299-57639349	U87	brain:	n/a

No data

Variant related genes	Relation type
NCOR1P3	TF binding region
NCOR1P3	CpG island

Extended variants
information (count: 294 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:294 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140737904	chr7:57639202-57639203	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs189350322	chr7:57639203-57639204	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs138547145	chr7:57639206-57639207	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs181763478	chr7:57639208-57639209	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs116536131	chr7:57639244-57639245	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs75814532	chr7:57639251-57639252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs562717112	chr7:57639253-57639254	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs574697182	chr7:57639285-57639286	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs541485971	chr7:57639289-57639290	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs73701840	chr7:57639293-57639294	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs548099711	chr7:57639294-57639295	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs112306445	chr7:57639300-57639301	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs372915816	chr7:57639302-57639303	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs563940316	chr7:57639305-57639306	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs568228462	chr7:57639308-57639309	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs200138557	chr7:57639336-57639337	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs531605040	chr7:57639352-57639353	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs550101638	chr7:57639361-57639362	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs568218792	chr7:57639370-57639371	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs73129291	chr7:57639371-57639372	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs7810986	chr7:57639373-57639374	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs548695576	chr7:57639380-57639381	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs185162617	chr7:57639388-57639389	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs533928831	chr7:57639389-57639390	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs558880080	chr7:57639399-57639400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs374103132	chr7:57639408-57639409	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs367997708	chr7:57639411-57639412	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs374435166	chr7:57639412-57639413	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs556450287	chr7:57639413-57639414	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs574684684	chr7:57639414-57639415	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs542065722	chr7:57639415-57639416	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs530943380	chr7:57639416-57639417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs374185234	chr7:57639423-57639424	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs145146944	chr7:57639440-57639441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs572217849	chr7:57639443-57639444	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs188063540	chr7:57639446-57639447	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs564063000	chr7:57639452-57639453	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs200281767	chr7:57639455-57639456	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs146872247	chr7:57639472-57639473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs550088055	chr7:57639487-57639488	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs377058444	chr7:57639494-57639495	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs562007145	chr7:57639526-57639527	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs77199930	chr7:57639536-57639537	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs202163521	chr7:57639596-57639597	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs73701841	chr7:57639605-57639606	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs79181583	chr7:57639608-57639609	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs79812735	chr7:57639623-57639624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs547644147	chr7:57639648-57639649	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs181413194	chr7:57639665-57639666	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs76532686	chr7:57639674-57639675	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	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
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
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:57639200-57641400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:57656400-57657200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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