Variant report

Variant	nsv966891
Chromosome Location	chr7:135942971-135949760
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	CBX3	chr7:135949021-135949403	K562	blood:	n/a	n/a
2	CBX3	chr7:135945252-135945493	K562	blood:	n/a	n/a
3	CBX3	chr7:135949014-135949533	K562	blood:	n/a	n/a
4	CEBPB	chr7:135944458-135944712	K562	blood:	n/a	chr7:135944546-135944557
5	CEBPB	chr7:135944398-135944728	HepG2	liver:	n/a	chr7:135944546-135944557
6	CEBPB	chr7:135944458-135944688	A549	lung:	n/a	chr7:135944546-135944557
7	CTCF	chr7:135947702-135947730	GM10266	blood:	n/a	n/a
8	CTCF	chr7:135948110-135948148	GM20000	blood:	n/a	n/a
9	FOXA1	chr7:135947954-135948182	HepG2	liver:	n/a	n/a
10	JUN	chr7:135949213-135949395	K562	blood:	n/a	n/a
11	KAP1	chr7:135945419-135945781	U2OS	brain:	n/a	n/a
12	KAP1	chr7:135947231-135947458	U2OS	brain:	n/a	n/a
13	KAP1	chr7:135949023-135949941	K562	blood:	n/a	n/a
14	KAP1	chr7:135945219-135945417	K562	blood:	n/a	n/a
15	SETDB1	chr7:135949057-135949435	K562	blood:	n/a	n/a
16	SETDB1	chr7:135947231-135947567	U2OS	brain:	n/a	n/a
17	SETDB1	chr7:135949053-135950369	K562	blood:	n/a	n/a
18	SETDB1	chr7:135945230-135945733	U2OS	brain:	n/a	n/a
19	SPI1	chr7:135947310-135947495	K562	blood:	n/a	n/a
20	SPI1	chr7:135948493-135948722	GM12891	blood:	n/a	n/a
21	SPI1	chr7:135948515-135948738	GM12878	blood:	n/a	n/a
22	SPI1	chr7:135948454-135948853	GM12891	blood:	n/a	n/a
23	SPI1	chr7:135948448-135948818	GM12878	blood:	n/a	n/a
24	TRIM28	chr7:135949004-135949533	K562	blood:	n/a	n/a
25	ZNF143	chr7:135949144-135949310	K562	blood:	n/a	n/a
26	ZNF143	chr7:135949143-135949383	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000236503	TF binding region

Extended variants
information (count: 253 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:253 , 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	rs575484067	chr7:135944406-135944407	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs544425768	chr7:135944459-135944460	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs370870319	chr7:135944478-135944479	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs375306047	chr7:135944537-135944538	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs117282757	chr7:135944561-135944562	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs34444115	chr7:135944601-135944602	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs559517337	chr7:135944608-135944609	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs538719468	chr7:135944616-135944617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs113664011	chr7:135944617-135944618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs34307610	chr7:135944623-135944624	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs60051868	chr7:135944681-135944682	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs550802375	chr7:135944720-135944721	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs570803454	chr7:135944732-135944733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs539768991	chr7:135944735-135944736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs561053071	chr7:135944755-135944756	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs60284301	chr7:135944788-135944789	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs566308504	chr7:135944833-135944834	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs550575292	chr7:135944854-135944855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs535455640	chr7:135944894-135944895	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs569030188	chr7:135944898-135944899	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs372224975	chr7:135944904-135944905	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs187664261	chr7:135944934-135944935	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs575423199	chr7:135944967-135944968	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs544414514	chr7:135944992-135944993	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs575200077	chr7:135944996-135944997	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs376793028	chr7:135944998-135944999	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs375327650	chr7:135945010-135945011	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs73460866	chr7:135945011-135945012	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs150167186	chr7:135945038-135945039	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs540192614	chr7:135945048-135945049	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs560414023	chr7:135945057-135945058	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs528427181	chr7:135945103-135945104	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs541830447	chr7:135945120-135945121	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs561835989	chr7:135945151-135945152	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs189944702	chr7:135945169-135945170	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs139240692	chr7:135945181-135945182	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs550736970	chr7:135945205-135945206	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs564556889	chr7:135945307-135945308	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs10464717	chr7:135945310-135945311	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs546951468	chr7:135945318-135945319	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs553866583	chr7:135945416-135945417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs535402794	chr7:135945428-135945429	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs116868553	chr7:135945444-135945445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs181630355	chr7:135945445-135945446	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs59285278	chr7:135945446-135945447	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs557969603	chr7:135945447-135945448	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs577731004	chr7:135945464-135945465	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs112273503	chr7:135945498-135945499	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs369282957	chr7:135945533-135945534	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs553742448	chr7:135945535-135945536	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Neuroticism	17667963	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute myeloid leukemia	17237825	CNVD
Esophageal cancer	21851588	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:135944400-135950800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:135944800-135945200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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