Variant report

Variant	nsv550995
Chromosome Location	chr10:56619592-56649171
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:56627703-56627915	HepG2	liver:	n/a	chr10:56627789-56627800
2	CTCF	chr10:56628315-56628349	Lung_OC	lung:	n/a	n/a
3	CTCF	chr10:56646362-56646402	GM20000	blood:	n/a	n/a
4	CTCF	chr10:56623240-56623390	WI-38	lung:	n/a	n/a
5	CTCF	chr10:56642540-56642690	AoAF	blood vessel:	n/a	n/a
6	E2F4	chr10:56636105-56636191	MCF10A-Er-Src	breast:	n/a	n/a
7	EBF1	chr10:56622313-56622508	GM12878	blood:	n/a	chr10:56622384-56622395
8	FOXA1	chr10:56626829-56627219	HepG2	liver:	n/a	chr10:56627074-56627086
9	FOXA1	chr10:56626901-56627150	HepG2	liver:	n/a	chr10:56627074-56627086
10	GATA3	chr10:56634854-56635041	SH-SY5Y	brain:	n/a	n/a
11	MAFK	chr10:56637037-56637050	HepG2	liver:	n/a	n/a
12	MAX	chr10:56634762-56635028	NB4	blood:	n/a	n/a
13	MYC	chr10:56623714-56624090	MCF10A-Er-Src	breast:	n/a	n/a
14	RAD21	chr10:56647855-56647950	IMR90	lung:	n/a	n/a
15	RFX5	chr10:56626603-56626612	K562	blood:	n/a	n/a
16	STAT3	chr10:56634583-56634792	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr10:56632012-56632358	MCF10A-Er-Src	breast:	n/a	n/a
18	ZNF143	chr10:56639981-56640048	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr10:56637516..56639044-chr10:56640862..56643411,2	K562	blood:
2	chr10:56637516..56639044-chr10:56640862..56643411,2	K562	blood:
3	chr10:56621759..56622362-chr4:187295967..187296841,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZWINT-5	chr10:56628799-56628882	ENSG00000236958.1
2	lnc-ZWINT-5	chr10:56624309-56624556	NONHSAT013459
3	lnc-ZWINT-5	chr10:56628799-56628906	NONHSAT013459
4	lnc-ZWINT-5	chr10:56624434-56624556	ENSG00000236958.1

No data

Variant related genes	Relation type
ENSG00000236958	TF binding region

Extended variants
information (count: 186 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:186 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577331354	chr10:56624323-56624324	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs546361349	chr10:56624345-56624346	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs556506463	chr10:56624367-56624368	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs576668779	chr10:56624393-56624394	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs542583634	chr10:56624407-56624408	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs562018995	chr10:56624439-56624440	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs544860627	chr10:56624475-56624476	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs143054676	chr10:56624503-56624504	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs188862076	chr10:56624519-56624520	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs111958084	chr10:56624532-56624533	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs564591148	chr10:56624552-56624553	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs148146229	chr10:56624556-56624557	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs143914077	chr10:56626847-56626848	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs188493394	chr10:56626857-56626858	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs12764813	chr10:56626860-56626861	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs543209860	chr10:56626899-56626900	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs16906618	chr10:56626918-56626919	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs144270549	chr10:56626957-56626958	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs375627551	chr10:56627028-56627029	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs111822402	chr10:56627069-56627070	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs530329989	chr10:56627134-56627135	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs529738585	chr10:56627184-56627185	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs540297304	chr10:56627212-56627213	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs7913159	chr10:56627225-56627226	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs532260259	chr10:56627233-56627234	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs559618698	chr10:56627243-56627244	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs551678796	chr10:56627253-56627254	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs192505467	chr10:56627326-56627327	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs531069271	chr10:56627338-56627339	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs555860878	chr10:56627341-56627342	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs550863383	chr10:56627370-56627371	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs567293519	chr10:56627376-56627377	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs372371460	chr10:56627390-56627391	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs116081398	chr10:56627404-56627405	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs10733934	chr10:56627408-56627409	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs183442799	chr10:56627416-56627417	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs560081486	chr10:56627430-56627431	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs187717057	chr10:56627450-56627451	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs558428197	chr10:56627463-56627464	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs575399622	chr10:56627464-56627465	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs544491472	chr10:56627473-56627474	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs554920202	chr10:56627489-56627490	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs191406339	chr10:56627520-56627521	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs570163799	chr10:56627543-56627544	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs10825412	chr10:56627577-56627578	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs183546135	chr10:56627587-56627588	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs549510836	chr10:56627601-56627602	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs142157208	chr10:56627613-56627614	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs565286157	chr10:56627622-56627623	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs531029265	chr10:56627654-56627655	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Intellectual disability	21948486	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Colorectal cancer	16774939	CNVD
Autism	20858243	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
small cell lung cancer	17426248	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56626800-56629000	Active TSS	Right Ventricle	heart
2	chr10:56628000-56628800	Active TSS	Left Ventricle	heart
3	chr10:56628400-56631200	Enhancers	Fetal Heart	heart
4	chr10:56629600-56629800	Enhancers	Left Ventricle	heart

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