Variant report

Variant	nsv1020933
Chromosome Location	chr7:65092426-65162170
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:293)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:293 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:65108591-65108803	K562	blood:	n/a	n/a
2	ATF3	chr7:65108509-65108697	K562	blood:	n/a	n/a
3	BATF	chr7:65137868-65138085	GM12878	blood:	n/a	chr7:65137964-65137975
4	BCL11A	chr7:65104696-65104939	GM12878	blood:	n/a	n/a
5	BHLHE40	chr7:65108612-65108643	K562	blood:	n/a	n/a
6	CBX3	chr7:65108032-65109054	K562	blood:	n/a	n/a
7	CBX3	chr7:65108350-65108892	K562	blood:	n/a	n/a
8	CBX3	chr7:65121700-65122125	K562	blood:	n/a	n/a
9	CBX3	chr7:65112039-65112934	K562	blood:	n/a	n/a
10	CEBPB	chr7:65116987-65117875	K562	blood:	n/a	n/a
11	CEBPB	chr7:65096196-65096510	K562	blood:	n/a	n/a
12	CEBPB	chr7:65108302-65108906	K562	blood:	n/a	n/a
13	CEBPB	chr7:65116233-65116255	A549	lung:	n/a	n/a
14	CEBPB	chr7:65102181-65102524	K562	blood:	n/a	chr7:65102336-65102348 chr7:65102372-65102385
15	CEBPB	chr7:65108610-65108642	K562	blood:	n/a	n/a
16	CEBPB	chr7:65117938-65117955	A549	lung:	n/a	n/a
17	CEBPD	chr7:65108449-65108890	K562	blood:	n/a	n/a
18	CEBPD	chr7:65121612-65122189	K562	blood:	n/a	n/a
19	CTCF	chr7:65096254-65096415	K562	blood:	n/a	chr7:65096355-65096373 chr7:65096357-65096378
20	CTCF	chr7:65104679-65104833	Gliobla	brain:	n/a	n/a
21	CTCF	chr7:65148514-65148535	LNCaP	prostate:	n/a	n/a
22	CTCF	chr7:65108205-65108212	Lung_OC	lung:	n/a	n/a
23	CTCF	chr7:65104682-65104835	A549	lung:	n/a	n/a
24	CTCF	chr7:65104725-65104820	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr7:65104737-65104820	MCF-7	breast:	n/a	n/a
26	CTCF	chr7:65096314-65096375	Medullo	brain:	n/a	chr7:65096355-65096373
27	CTCF	chr7:65112590-65112694	LNCaP	prostate:	n/a	n/a
28	CTCF	chr7:65096160-65096479	K562	blood:	n/a	chr7:65096355-65096373 chr7:65096357-65096378
29	CTCF	chr7:65104690-65104926	LNCaP	prostate:	n/a	n/a
30	CTCF	chr7:65104580-65104977	A549	lung:	n/a	n/a
31	CTCF	chr7:65104758-65104849	GM10248	blood:	n/a	n/a
32	CTCF	chr7:65112193-65112246	Kidney_OC	kidney:	n/a	n/a
33	CTCF	chr7:65104446-65105070	K562	blood:	n/a	n/a
34	CTCF	chr7:65104576-65105005	K562	blood:	n/a	n/a
35	CTCF	chr7:65104513-65105036	K562	blood:	n/a	n/a
36	CTCF	chr7:65095726-65095780	GM10248	blood:	n/a	n/a
37	CTCF	chr7:65104778-65104826	GM20000	blood:	n/a	n/a
38	CTCF	chr7:65108214-65108311	Lung_OC	lung:	n/a	n/a
39	CTCF	chr7:65104713-65104829	K562	blood:	n/a	n/a
40	CTCF	chr7:65104742-65104812	MCF-7	breast:	n/a	n/a
41	CTCF	chr7:65104577-65105018	A549	lung:	n/a	n/a
42	CTCF	chr7:65109024-65109086	Medullo	brain:	n/a	n/a
43	CTCF	chr7:65104731-65104884	Medullo	brain:	n/a	n/a
44	CTCF	chr7:65104729-65104811	MCF-7	breast:	n/a	n/a
45	CTCF	chr7:65104725-65104889	GM13977	blood:	n/a	n/a
46	CTCF	chr7:65104699-65104885	A549	lung:	n/a	n/a
47	CTCF	chr7:65156491-65156525	GM13976	blood:	n/a	n/a
48	CTCF	chr7:65104757-65104852	GM10266	blood:	n/a	n/a
49	CTCF	chr7:65096161-65096451	K562	blood:	n/a	chr7:65096355-65096373 chr7:65096357-65096378
50	CTCF	chr7:65104744-65104842	GM13976	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:65112453-65112503	SK-N-MC	brain:	n/a
2	chr7:65148423-65148473	NT2-D1	testis:	n/a
3	chr7:65112418-65112468	H1-hESC	embryonic stem cell:	embryo
4	chr7:65112453-65112503	HRCEpiC	kidney:	n/a
5	chr7:65148423-65148473	RPTEC	kidney:	n/a
6	chr7:65112453-65112503	HPAEpiC	pulmonary alveolar:	n/a
7	chr7:65112418-65112468	HRCEpiC	kidney:	n/a
8	chr7:65148423-65148473	NB4	blood:	n/a
9	chr7:65112418-65112468	Hela-S3	cervix:	n/a
10	chr7:65148423-65148473	LNCaP	prostate:	n/a
11	chr7:65112453-65112503	A549	lung:	n/a
12	chr7:65112434-65112484	HCPEpiC	choroid plexus:	n/a
13	chr7:65112434-65112484	NT2-D1	testis:	n/a
14	chr7:65148423-65148473	Hepatocyte	liver:	n/a
15	chr7:65148423-65148473	SAEC	small airway:	n/a
16	chr7:65112418-65112468	HRPEpiC	eye:	n/a
17	chr7:65112453-65112503	GM12891	blood:	n/a
18	chr7:65112453-65112503	AG09309	skin:	n/a
19	chr7:65148423-65148473	Caco-2	colon:	n/a
20	chr7:65148423-65148473	HUVEC	blood vessel:	n/a
21	chr7:65148423-65148473	HNPCEpiC	eye:	n/a
22	chr7:65148423-65148473	MCF10A-Er-Src	breast:	n/a
23	chr7:65112418-65112468	NHDF-neo	bronchial:	n/a
24	chr7:65112418-65112468	NT2-D1	testis:	n/a
25	chr7:65112418-65112468	HL-60	blood:	n/a
26	chr7:65148423-65148473	AG09319	gingival:	n/a
27	chr7:65112453-65112503	BE2_C	brain:	n/a
28	chr7:65112434-65112484	AG04450	lung:	fetal
29	chr7:65112434-65112484	HAEpiC	amniotic membrane:	n/a
30	chr7:65112434-65112484	MCF10A-Er-Src	breast:	n/a
31	chr7:65112453-65112503	HMEC	breast:	n/a
32	chr7:65112453-65112503	ProgFib	skin:	n/a
33	chr7:65112434-65112484	Hela-S3	cervix:	n/a
34	chr7:65112418-65112468	PANC-1	pancreas:	n/a
35	chr7:65112434-65112484	PrEC	prostate:	n/a
36	chr7:65112418-65112468	HEK293	kidney:	embryo
37	chr7:65112434-65112484	HEEpiC	esophagus:	n/a
38	chr7:65112434-65112484	HRCEpiC	kidney:	n/a
39	chr7:65148423-65148473	BJ	skin:	n/a
40	chr7:65112418-65112468	NHBE	bronchial:	n/a
41	chr7:65112418-65112468	IMR90	lung:	fetal
42	chr7:65112434-65112484	GM12891	blood:	n/a
43	chr7:65112434-65112484	Hepatocyte	liver:	n/a
44	chr7:65148423-65148473	A549	lung:	n/a
45	chr7:65112453-65112503	T-47D	breast:	n/a
46	chr7:65112453-65112503	Hepatocyte	liver:	n/a
47	chr7:65148423-65148473	U87	brain:	n/a
48	chr7:65112434-65112484	HCM	heart:	n/a
49	chr7:65148423-65148473	AG04450	lung:	fetal
50	chr7:65148423-65148473	HCM	heart:	n/a

No data

Variant related genes	Relation type
ENSG00000269558	TF binding region
INTS4L2	TF binding region
ENSG00000269558	CpG island
INTS4L2	CpG island

Extended variants
information (count: 94 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369020684	chr7:65107919-65107920	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs568776091	chr7:65108596-65108597	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs71277483	chr7:65108622-65108623	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs537757356	chr7:65108660-65108661	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs113963191	chr7:65112027-65112028	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs547934452	chr7:65112153-65112154	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs567911008	chr7:65112188-65112189	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs28432972	chr7:65112366-65112367	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs373323708	chr7:65112456-65112457	Active TSS Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs533775660	chr7:65112469-65112470	Active TSS Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs553567909	chr7:65112472-65112473	Active TSS Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs112115886	chr7:65112494-65112495	Active TSS Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs576896649	chr7:65112502-65112503	Active TSS Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs149949566	chr7:65112505-65112506	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs112899454	chr7:65112510-65112511	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs112049535	chr7:65112515-65112516	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs556136369	chr7:65112738-65112739	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs376624095	chr7:65112775-65112776	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs371079218	chr7:65112776-65112777	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs371124207	chr7:65113951-65113952	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs200836352	chr7:65113980-65113981	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs376168560	chr7:65113982-65113983	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs367680257	chr7:65113996-65113997	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs201004697	chr7:65114036-65114037	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs370354532	chr7:65114273-65114274	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs553330341	chr7:65114282-65114283	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs111858547	chr7:65115282-65115283	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs112657789	chr7:65115290-65115291	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs113609848	chr7:65115292-65115293	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs542540354	chr7:65115318-65115319	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs368159083	chr7:65115344-65115345	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs371666434	chr7:65115617-65115618	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs375101566	chr7:65115622-65115623	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs62472327	chr7:65115763-65115764	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs62472328	chr7:65115801-65115802	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs62472329	chr7:65115813-65115814	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs569038838	chr7:65115867-65115868	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs62472330	chr7:65115882-65115883	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs562412499	chr7:65116036-65116037	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs201927950	chr7:65116046-65116047	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs533484440	chr7:65116233-65116234	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs6460253	chr7:65116251-65116252	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs549864791	chr7:65116252-65116253	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs201678810	chr7:65116460-65116461	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs527471325	chr7:65116514-65116515	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs111219921	chr7:65116516-65116517	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs201222304	chr7:65116534-65116535	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs375896053	chr7:65116579-65116580	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs547588807	chr7:65116641-65116642	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs562866705	chr7:65116657-65116658	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65112200-65112400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:65112200-65112600	Active TSS	H1 Cell Line	embryonic stem cell
3	chr7:65112200-65112600	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr7:65112200-65112600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:65112200-65112600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:65112200-65112800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:65112200-65112800	Active TSS	Psoas Muscle	Psoas
8	chr7:65112200-65112800	Active TSS	Right Ventricle	heart
9	chr7:65112400-65112600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:65112400-65112600	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
11	chr7:65112400-65112800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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