Variant report

Variant	nsv1025842
Chromosome Location	chr7:4534797-4588027
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:156)
CpG islands
(count:244)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:156 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:4573177-4573308	K562	blood:	n/a	n/a
2	ATF2	chr7:4540407-4540709	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr7:4539804-4540066	HepG2	liver:	n/a	n/a
4	CBX3	chr7:4539559-4539829	K562	blood:	n/a	n/a
5	CBX3	chr7:4539569-4539857	K562	blood:	n/a	n/a
6	CEBPB	chr7:4584957-4585000	HepG2	liver:	n/a	chr7:4584972-4584983
7	CEBPB	chr7:4562189-4562372	K562	blood:	n/a	chr7:4562300-4562311
8	CEBPB	chr7:4543419-4543508	HepG2	liver:	n/a	n/a
9	CEBPB	chr7:4585045-4585090	A549	lung:	n/a	n/a
10	CEBPB	chr7:4562197-4562343	HepG2	liver:	n/a	chr7:4562300-4562311
11	CEBPD	chr7:4573063-4573272	K562	blood:	n/a	n/a
12	CEBPD	chr7:4572950-4573325	K562	blood:	n/a	n/a
13	CHD1	chr7:4541262-4541349	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD2	chr7:4540385-4540761	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr7:4573126-4573556	K562	blood:	n/a	n/a
16	CHD2	chr7:4573233-4573376	HepG2	liver:	n/a	n/a
17	CTCF	chr7:4543100-4543250	SK-N-SH_RA	brain:	n/a	n/a
18	CTCF	chr7:4543023-4543200	K562	blood:	n/a	n/a
19	CTCF	chr7:4542940-4543090	RPTEC	kidney:	n/a	n/a
20	CTCF	chr7:4543020-4543170	WERI-Rb-1	eye:	n/a	n/a
21	CTCF	chr7:4581880-4581898	GM20000	blood:	n/a	n/a
22	CTCF	chr7:4543032-4543137	HUVEC	blood vessel:	n/a	n/a
23	CTCF	chr7:4543060-4543210	WERI-Rb-1	eye:	n/a	n/a
24	CTCF	chr7:4543020-4543170	GM12872	blood:	n/a	n/a
25	CTCF	chr7:4543100-4543250	MCF-7	breast:	n/a	n/a
26	CTCF	chr7:4543020-4543170	HEK293	kidney:	n/a	n/a
27	CTCF	chr7:4543100-4543250	A549	lung:	n/a	n/a
28	CTCF	chr7:4543040-4543190	GM12873	blood:	n/a	n/a
29	CTCF	chr7:4543020-4543170	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr7:4543020-4543170	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr7:4543026-4543227	K562	blood:	n/a	n/a
32	CTCF	chr7:4543060-4543210	BE2_C	brain:	n/a	n/a
33	CTCF	chr7:4543085-4543122	GM12878	blood:	n/a	n/a
34	CTCF	chr7:4542900-4543050	HCT-116	colon:	n/a	n/a
35	CTCF	chr7:4543032-4543164	Gliobla	brain:	n/a	n/a
36	CTCF	chr7:4543100-4543250	HCT-116	colon:	n/a	n/a
37	CTCF	chr7:4543059-4543177	HepG2	liver:	n/a	n/a
38	CTCF	chr7:4543103-4543152	LNCaP	prostate:	n/a	n/a
39	CTCF	chr7:4543032-4543168	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr7:4543000-4543150	HepG2	liver:	n/a	n/a
41	CTCF	chr7:4543016-4543185	MCF-7	breast:	n/a	n/a
42	CTCF	chr7:4575500-4575650	MCF-7	breast:	n/a	n/a
43	CTCF	chr7:4543040-4543190	MCF-7	breast:	n/a	n/a
44	CTCF	chr7:4543032-4543168	MCF-7	breast:	n/a	n/a
45	CTCF	chr7:4543080-4543230	NB4	blood:	n/a	n/a
46	E2F4	chr7:4559031-4559127	MCF10A-Er-Src	breast:	n/a	n/a
47	EBF1	chr7:4562336-4562532	GM12878	blood:	n/a	n/a
48	EGR1	chr7:4573045-4573379	K562	blood:	n/a	n/a
49	EGR1	chr7:4573003-4573352	K562	blood:	n/a	n/a
50	ELF1	chr7:4535240-4535572	K562	blood:	n/a	chr7:4535416-4535429 chr7:4535419-4535428 chr7:4535418-4535429 chr7:4535418-4535429

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:4573716-4573766	MCF-7	breast:	n/a
2	chr7:4573716-4573766	NH-A	brain:	n/a
3	chr7:4536838-4536888	AG10803	skin:	n/a
4	chr7:4573535-4573585	GM06990	blood:	n/a
5	chr7:4536838-4536888	Jurkat	blood:	n/a
6	chr7:4536838-4536888	HRCEpiC	kidney:	n/a
7	chr7:4536838-4536888	HCM	heart:	n/a
8	chr7:4536838-4536888	HUVEC	blood vessel:	n/a
9	chr7:4573535-4573585	AG04450	lung:	fetal
10	chr7:4536838-4536888	U87	brain:	n/a
11	chr7:4573716-4573766	HAEpiC	amniotic membrane:	n/a
12	chr7:4573535-4573585	HRE	kidney:	n/a
13	chr7:4536864-4536914	GM19239	blood:	n/a
14	chr7:4573535-4573585	MCF10A-Er-Src	breast:	n/a
15	chr7:4573535-4573585	AoSMC	blood vessel:	n/a
16	chr7:4573535-4573585	SAEC	small airway:	n/a
17	chr7:4573716-4573766	HepG2	liver:	n/a
18	chr7:4573535-4573585	HepG2	liver:	n/a
19	chr7:4573716-4573766	PFSK-1	brain:	n/a
20	chr7:4536864-4536914	HCF	heart:	n/a
21	chr7:4573716-4573766	GM06990	blood:	n/a
22	chr7:4573535-4573585	HRPEpiC	eye:	n/a
23	chr7:4536838-4536888	AoSMC	blood vessel:	n/a
24	chr7:4573716-4573766	Caco-2	colon:	n/a
25	chr7:4573535-4573585	HCT-116	colon:	n/a
26	chr7:4573535-4573585	GM19239	blood:	n/a
27	chr7:4536838-4536888	HepG2	liver:	n/a
28	chr7:4536838-4536888	Hela-S3	cervix:	n/a
29	chr7:4573535-4573585	Jurkat	blood:	n/a
30	chr7:4536838-4536888	SK-N-SH	brain:	n/a
31	chr7:4536864-4536914	Hepatocyte	liver:	n/a
32	chr7:4573535-4573585	CMK	blood:	n/a
33	chr7:4573716-4573766	Hela-S3	cervix:	n/a
34	chr7:4536864-4536914	Hela-S3	cervix:	n/a
35	chr7:4536838-4536888	PFSK-1	brain:	n/a
36	chr7:4536838-4536888	GM12892	blood:	n/a
37	chr7:4536838-4536888	HEEpiC	esophagus:	n/a
38	chr7:4536864-4536914	AG04450	lung:	fetal
39	chr7:4536864-4536914	SK-N-MC	brain:	n/a
40	chr7:4536838-4536888	RPTEC	kidney:	n/a
41	chr7:4573535-4573585	NHDF-neo	bronchial:	n/a
42	chr7:4573716-4573766	HMEC	breast:	n/a
43	chr7:4573716-4573766	ovcar-3	ovarian:	n/a
44	chr7:4573535-4573585	PrEC	prostate:	n/a
45	chr7:4536864-4536914	HRE	kidney:	n/a
46	chr7:4536838-4536888	T-47D	breast:	n/a
47	chr7:4536864-4536914	H1-hESC	embryonic stem cell:	embryo
48	chr7:4573535-4573585	ProgFib	skin:	n/a
49	chr7:4573535-4573585	HNPCEpiC	eye:	n/a
50	chr7:4573716-4573766	PANC-1	pancreas:	n/a

(count:7 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 309 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:309 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534943714	chr7:4539806-4539807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111416305	chr7:4539811-4539812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140518191	chr7:4539832-4539833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183003836	chr7:4539833-4539834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562898271	chr7:4539851-4539852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs895707	chr7:4539901-4539902	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs376180023	chr7:4539913-4539914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551743074	chr7:4539934-4539935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571565413	chr7:4539935-4539936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527486729	chr7:4539981-4539982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547237803	chr7:4539982-4539983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567368780	chr7:4539995-4539996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187255780	chr7:4540029-4540030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191767415	chr7:4540031-4540032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182371556	chr7:4540051-4540052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150008309	chr7:4540074-4540075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116278404	chr7:4540077-4540078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368779631	chr7:4540078-4540079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186681521	chr7:4540081-4540082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145221864	chr7:4540159-4540160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs367623330	chr7:4540171-4540172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561781974	chr7:4540222-4540223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574155617	chr7:4540232-4540233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542789683	chr7:4540234-4540235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562963596	chr7:4540238-4540239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531788993	chr7:4540277-4540278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374340610	chr7:4540400-4540401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34211242	chr7:4540430-4540431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142346488	chr7:4540431-4540432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12673625	chr7:4540435-4540436	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs527555711	chr7:4540439-4540440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192472551	chr7:4540440-4540441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184447795	chr7:4540474-4540475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541733175	chr7:4540509-4540510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190535449	chr7:4540530-4540531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12669323	chr7:4540555-4540556	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs538249057	chr7:4540557-4540558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76170007	chr7:4540564-4540565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs75527402	chr7:4540591-4540592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566107298	chr7:4546624-4546625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs534695507	chr7:4546666-4546667	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs181799453	chr7:4546684-4546685	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs574350782	chr7:4546714-4546715	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs186778922	chr7:4546769-4546770	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs557147780	chr7:4546780-4546781	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs572864504	chr7:4551667-4551668	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs141888676	chr7:4551670-4551671	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs187248174	chr7:4551679-4551680	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs530328052	chr7:4551684-4551685	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs73034771	chr7:4551687-4551688	Inactive region	TF binding region	1 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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4539800-4540600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
2	chr7:4546600-4546800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:4559800-4560000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:4569800-4571000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:4570000-4570200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr7:4570200-4571000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr7:4570400-4571200	Enhancers	H9 Cell Line	embryonic stem cell
8	chr7:4570600-4571000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:4570800-4571000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:4571000-4571200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr7:4571200-4571400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr7:4571200-4571400	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr7:4571400-4571800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:4572200-4572400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr7:4572600-4572800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr7:4575600-4575800	Enhancers	Gastric	stomach
17	chr7:4575600-4576000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:4582400-4583000	ZNF genes & repeats	Pancreas	Pancrea

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