Variant report

Variant	nsv966705
Chromosome Location	chr7:4544340-4572348
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	CEBPB	chr7:4562197-4562343	HepG2	liver:	n/a	chr7:4562300-4562311
2	CEBPB	chr7:4562189-4562372	K562	blood:	n/a	chr7:4562300-4562311
3	E2F4	chr7:4559031-4559127	MCF10A-Er-Src	breast:	n/a	n/a
4	EBF1	chr7:4562336-4562532	GM12878	blood:	n/a	n/a
5	ELF1	chr7:4559774-4559988	K562	blood:	n/a	chr7:4559906-4559919
6	EP300	chr7:4562840-4563377	SK-N-SH_RA	brain:	n/a	chr7:4563340-4563354 chr7:4563334-4563348
7	EP300	chr7:4562443-4564391	SK-N-SH	brain:	n/a	chr7:4563340-4563354 chr7:4563334-4563348
8	EP300	chr7:4558979-4559008	GM12878	blood:	n/a	n/a
9	EP300	chr7:4562906-4563332	SK-N-SH_RA	brain:	n/a	n/a
10	FOS	chr7:4568002-4568197	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr7:4559871-4560071	MCF10A-Er-Src	breast:	n/a	chr7:4559891-4559898
12	FOS	chr7:4559965-4560079	MCF10A-Er-Src	breast:	n/a	n/a
13	FOSL2	chr7:4567870-4568193	HepG2	liver:	n/a	n/a
14	FOXA2	chr7:4564410-4564915	A549	lung:	n/a	n/a
15	GATA2	chr7:4562518-4563325	SH-SY5Y	brain:	n/a	n/a
16	GATA3	chr7:4560904-4561104	SH-SY5Y	brain:	n/a	n/a
17	GATA3	chr7:4562814-4563343	SH-SY5Y	brain:	n/a	n/a
18	GATA3	chr7:4561742-4561925	SH-SY5Y	brain:	n/a	n/a
19	GATA3	chr7:4553095-4553474	SH-SY5Y	brain:	n/a	chr7:4553224-4553240
20	JUND	chr7:4568021-4568110	K562	blood:	n/a	n/a
21	JUND	chr7:4571419-4571433	H1-hESC	embryonic stem cell:	n/a	n/a
22	KAP1	chr7:4565472-4565838	HEK293	kidney:	n/a	n/a
23	KAP1	chr7:4565482-4565866	U2OS	brain:	n/a	n/a
24	MAX	chr7:4555515-4555709	NB4	blood:	n/a	chr7:4555596-4555606
25	MAX	chr7:4570906-4571165	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAZ	chr7:4561410-4561496	HepG2	liver:	n/a	n/a
27	NFIC	chr7:4562922-4563270	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr7:4559323-4559360	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr7:4555167-4555180	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr7:4571115-4571282	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr7:4555955-4556003	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr7:4570780-4571297	H1-hESC	embryonic stem cell:	n/a	n/a
33	POU5F1	chr7:4570892-4571187	H1-hESC	embryonic stem cell:	n/a	n/a
34	SETDB1	chr7:4551533-4551999	U2OS	brain:	n/a	n/a
35	SP1	chr7:4570830-4571259	H1-hESC	embryonic stem cell:	n/a	n/a
36	STAT3	chr7:4563040-4563357	MCF10A-Er-Src	breast:	n/a	n/a
37	STAT3	chr7:4556771-4556902	MCF10A-Er-Src	breast:	n/a	n/a
38	TBP	chr7:4570984-4571360	H1-hESC	embryonic stem cell:	n/a	n/a
39	TCF12	chr7:4562831-4563351	SK-N-SH	brain:	n/a	n/a
40	TCF7L2	chr7:4550027-4550066	Hela-S3	cervix:	n/a	n/a
41	TEAD4	chr7:4562754-4563220	SK-N-SH	brain:	n/a	n/a
42	USF1	chr7:4567760-4567915	HepG2	liver:	n/a	chr7:4567861-4567872
43	USF1	chr7:4567750-4567956	HepG2	liver:	n/a	chr7:4567861-4567872
44	YY1	chr7:4570898-4571251	H1-hESC	embryonic stem cell:	n/a	n/a
45	YY1	chr7:4570856-4571233	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:4555170..4556862-chr7:4558765..4561124,2	K562	blood:
2	chr7:4555170..4556862-chr7:4558765..4561124,2	K562	blood:
3	chr7:4551212..4552814-chr7:4554906..4557306,2	K562	blood:
4	chr7:4541545..4543274-chr7:4543429..4546060,2	MCF-7	breast:
5	chr7:4559356..4562288-chr7:4562408..4565136,2	MCF-7	breast:
6	chr7:4559356..4562288-chr7:4562408..4565136,2	MCF-7	breast:

Variant related genes	Relation type
CYP3A54P	TF binding region
ENSG00000261809	chromatin interactions

Extended variants
information (count: 218 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:218 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566107298	chr7:4546624-4546625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs534695507	chr7:4546666-4546667	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs181799453	chr7:4546684-4546685	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs574350782	chr7:4546714-4546715	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs186778922	chr7:4546769-4546770	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs557147780	chr7:4546780-4546781	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs572864504	chr7:4551667-4551668	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs141888676	chr7:4551670-4551671	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs187248174	chr7:4551679-4551680	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs530328052	chr7:4551684-4551685	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs73034771	chr7:4551687-4551688	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs113724546	chr7:4551699-4551700	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs532499933	chr7:4551794-4551795	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs139692154	chr7:4551913-4551914	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs147649229	chr7:4553101-4553102	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs577093123	chr7:4553125-4553126	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs111487448	chr7:4553191-4553192	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs530777872	chr7:4553210-4553211	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs1447399	chr7:4553216-4553217	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs548155200	chr7:4553235-4553236	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs372852584	chr7:4553247-4553248	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs531157730	chr7:4553328-4553329	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs142260860	chr7:4553337-4553338	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs62453499	chr7:4553340-4553341	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs55981434	chr7:4553379-4553380	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs370073656	chr7:4553387-4553388	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs73044537	chr7:4553433-4553434	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs75846530	chr7:4554915-4554916	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs549656823	chr7:4554996-4554997	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs74396401	chr7:4555014-4555015	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs531958601	chr7:4555151-4555152	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs116478334	chr7:4555168-4555169	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs544112199	chr7:4555180-4555181	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs149816107	chr7:4555223-4555224	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs547570829	chr7:4555244-4555245	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs145524825	chr7:4555260-4555261	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs536209116	chr7:4555268-4555269	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs529493931	chr7:4555306-4555307	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs139537029	chr7:4555314-4555315	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs115747750	chr7:4555315-4555316	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs558366865	chr7:4555333-4555334	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs145065455	chr7:4555344-4555345	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs73319011	chr7:4555350-4555351	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs547723145	chr7:4555357-4555358	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs560775833	chr7:4555449-4555450	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs574386803	chr7:4555460-4555461	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs200215910	chr7:4555472-4555473	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs543018862	chr7:4555490-4555491	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs563220638	chr7:4555514-4555515	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs369026305	chr7:4555593-4555594	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
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
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
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Glioblastoma multiforme	21525872	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4546600-4546800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:4559800-4560000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:4569800-4571000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr7:4570000-4570200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr7:4570200-4571000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr7:4570400-4571200	Enhancers	H9 Cell Line	embryonic stem cell
7	chr7:4570600-4571000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:4570800-4571000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:4571000-4571200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr7:4571200-4571400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr7:4571200-4571400	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr7:4571400-4571800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:4572200-4572400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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