Variant report

Variant	nsv1013562
Chromosome Location	chr3:22211580-22244794
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:97)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:97 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr3:22227764-22227995	A549	lung:	n/a	n/a
2	CEBPB	chr3:22237586-22237702	A549	lung:	n/a	n/a
3	CTCF	chr3:22217400-22217550	HCM	heart:	n/a	n/a
4	CTCF	chr3:22217540-22217690	MCF-7	breast:	n/a	n/a
5	CTCF	chr3:22217520-22217670	HPAF	blood vessel:	n/a	n/a
6	CTCF	chr3:22217503-22217581	Lung_OC	lung:	n/a	n/a
7	CTCF	chr3:22217520-22217670	HBMEC	blood vessel:	n/a	n/a
8	CTCF	chr3:22217480-22217630	AG09309	skin:	n/a	n/a
9	CTCF	chr3:22217480-22217630	AG10803	skin:	n/a	n/a
10	CTCF	chr3:22217420-22217570	NHDF-neo	bronchial:	n/a	n/a
11	CTCF	chr3:22217520-22217670	HMF	breast:	n/a	n/a
12	CTCF	chr3:22217520-22217670	HCM	heart:	n/a	n/a
13	CTCF	chr3:22217500-22217650	HCFaa	heart:	n/a	n/a
14	CTCF	chr3:22217460-22217610	HBMEC	blood vessel:	n/a	n/a
15	CTCF	chr3:22217513-22217627	LNCaP	prostate:	n/a	n/a
16	CTCF	chr3:22217520-22217670	HA-sp	spinal cord:	n/a	n/a
17	CTCF	chr3:22217480-22217630	HMEC	breast:	n/a	n/a
18	CTCF	chr3:22217480-22217630	HPF	lung:	n/a	n/a
19	CTCF	chr3:22217500-22217650	HMF	breast:	n/a	n/a
20	CTCF	chr3:22217420-22217570	AG10803	skin:	n/a	n/a
21	CTCF	chr3:22217430-22218021	SK-N-SH	brain:	n/a	n/a
22	CTCF	chr3:22217420-22217570	HRPEpiC	eye:	n/a	n/a
23	CTCF	chr3:22217560-22217710	AoAF	blood vessel:	n/a	n/a
24	CTCF	chr3:22217540-22217690	HMEC	breast:	n/a	n/a
25	CTCF	chr3:22217413-22217730	GM12878	blood:	n/a	n/a
26	CTCF	chr3:22217449-22217690	Medullo	brain:	n/a	n/a
27	CTCF	chr3:22217460-22217610	AG09319	gingival:	n/a	n/a
28	CTCF	chr3:22217500-22217650	NHDF-neo	bronchial:	n/a	n/a
29	CTCF	chr3:22217487-22217639	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr3:22217508-22217603	Pancreas_OC	pancreas:	n/a	n/a
31	CTCF	chr3:22217480-22217630	RPTEC	kidney:	n/a	n/a
32	CTCF	chr3:22234105-22234119	GM20000	blood:	n/a	n/a
33	CTCF	chr3:22217500-22217650	HRPEpiC	eye:	n/a	n/a
34	CTCF	chr3:22217520-22217603	GM10248	blood:	n/a	n/a
35	CTCF	chr3:22217360-22217510	HAc	cerebellar:	n/a	n/a
36	CTCF	chr3:22217500-22217629	LNCaP	prostate:	n/a	n/a
37	CTCF	chr3:22217480-22217630	HCPEpiC	choroid plexus:	n/a	n/a
38	CTCF	chr3:22217440-22217590	AG09319	gingival:	n/a	n/a
39	CTCF	chr3:22217480-22217673	HUVEC	blood vessel:	n/a	n/a
40	CTCF	chr3:22217460-22217610	HA-sp	spinal cord:	n/a	n/a
41	CUX1	chr3:22214483-22214554	GM12878	blood:	n/a	n/a
42	EP300	chr3:22214562-22214581	GM12878	blood:	n/a	n/a
43	GATA3	chr3:22217618-22218239	SH-SY5Y	brain:	n/a	n/a
44	GATA3	chr3:22228657-22228796	SH-SY5Y	brain:	n/a	n/a
45	JUND	chr3:22213794-22213876	HepG2	liver:	n/a	chr3:22213858-22213865 chr3:22213856-22213868 chr3:22213858-22213866 chr3:22213857-22213866 chr3:22213857-22213867
46	KAP1	chr3:22211808-22212220	K562	blood:	n/a	n/a
47	MAFF	chr3:22214493-22214798	HepG2	liver:	n/a	n/a
48	MAFF	chr3:22214524-22214727	K562	blood:	n/a	n/a
49	MAFK	chr3:22214616-22214651	K562	blood:	n/a	n/a
50	MAFK	chr3:22243098-22243251	HepG2	liver:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:22218049..22218903-chr9:120895826..120896702,2	MCF-7	breast:
2	chr3:22202679..22204689-chr3:22233994..22235730,2	K562	blood:
3	chr3:22217113..22218017-chr3:22727091..22727719,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF385D	TF binding region

Extended variants
information (count: 916 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:916 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536143531	chr3:22211592-22211593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551326756	chr3:22211596-22211597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569589858	chr3:22211597-22211598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139609157	chr3:22211607-22211608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557741775	chr3:22211611-22211612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572802770	chr3:22211617-22211618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372229900	chr3:22211669-22211670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554961786	chr3:22211698-22211699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115174295	chr3:22211717-22211718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375376252	chr3:22211728-22211729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555262215	chr3:22211749-22211750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573813282	chr3:22211755-22211756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116754409	chr3:22211835-22211836	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs556005812	chr3:22211871-22211872	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs568509660	chr3:22211878-22211879	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs185013658	chr3:22211898-22211899	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs564552480	chr3:22211906-22211907	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs368531068	chr3:22211951-22211952	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs150641603	chr3:22211961-22211962	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs36079520	chr3:22211964-22211965	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs9862737	chr3:22211985-22211986	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs562122661	chr3:22212002-22212003	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs139849665	chr3:22212003-22212004	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs551209866	chr3:22212032-22212033	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs78473614	chr3:22212058-22212059	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs577386507	chr3:22212066-22212067	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs551085790	chr3:22212106-22212107	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs566501435	chr3:22212109-22212110	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs149828536	chr3:22212118-22212119	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs145857228	chr3:22212119-22212120	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs567038533	chr3:22212124-22212125	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs559132032	chr3:22212160-22212161	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs375079879	chr3:22212208-22212209	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs555944414	chr3:22212211-22212212	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs116697998	chr3:22212255-22212256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544944957	chr3:22212260-22212261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557854329	chr3:22212302-22212303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573219867	chr3:22212303-22212304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540294315	chr3:22212316-22212317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2035850	chr3:22212357-22212358	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs144194649	chr3:22212369-22212370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74559644	chr3:22212385-22212386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563124114	chr3:22212418-22212419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190561276	chr3:22212424-22212425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552086494	chr3:22212445-22212446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11926272	chr3:22212458-22212459	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs66562666	chr3:22212461-22212462	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs2035849	chr3:22212476-22212477	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs566976213	chr3:22212478-22212479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181044974	chr3:22212497-22212498	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22209200-22218600	Weak transcription	Fetal Lung	lung
2	chr3:22215800-22216200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr3:22216200-22217600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:22217600-22218200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:22217600-22218200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:22218600-22218800	Enhancers	Fetal Lung	lung
7	chr3:22219200-22222000	Weak transcription	Fetal Heart	heart
8	chr3:22236000-22236400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:22239000-22239200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:22240400-22241000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr3:22240600-22241000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:22240600-22241200	Enhancers	Fetal Lung	lung
13	chr3:22241200-22251600	Weak transcription	Fetal Lung	lung

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