Variant report

Variant	nsv550993
Chromosome Location	chr10:56614745-56682987
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	BACH1	chr10:56666691-56667053	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr10:56657200-56657414	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr10:56660332-56660649	GM12878	blood:	n/a	n/a
4	BATF	chr10:56660366-56660650	GM12878	blood:	n/a	n/a
5	CEBPB	chr10:56650589-56650899	A549	lung:	n/a	chr10:56650711-56650728 chr10:56650714-56650725 chr10:56650714-56650727
6	CEBPB	chr10:56656738-56657181	HepG2	liver:	n/a	chr10:56657061-56657072 chr10:56656774-56656786
7	CEBPB	chr10:56650580-56650902	HepG2	liver:	n/a	chr10:56650711-56650728 chr10:56650714-56650725 chr10:56650714-56650727
8	CEBPB	chr10:56650557-56650899	IMR90	lung:	n/a	chr10:56650711-56650728 chr10:56650714-56650725 chr10:56650714-56650727
9	CEBPB	chr10:56650630-56650734	K562	blood:	n/a	chr10:56650711-56650728 chr10:56650714-56650725 chr10:56650714-56650727
10	CEBPB	chr10:56657095-56657292	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr10:56627703-56627915	HepG2	liver:	n/a	chr10:56627789-56627800
12	CTCF	chr10:56668120-56668270	GM12868	blood:	n/a	n/a
13	CTCF	chr10:56667960-56668110	GM12865	blood:	n/a	n/a
14	CTCF	chr10:56623240-56623390	WI-38	lung:	n/a	n/a
15	CTCF	chr10:56615600-56615750	HepG2	liver:	n/a	n/a
16	CTCF	chr10:56646362-56646402	GM20000	blood:	n/a	n/a
17	CTCF	chr10:56628315-56628349	Lung_OC	lung:	n/a	n/a
18	CTCF	chr10:56642540-56642690	AoAF	blood vessel:	n/a	n/a
19	E2F4	chr10:56636105-56636191	MCF10A-Er-Src	breast:	n/a	n/a
20	EBF1	chr10:56622313-56622508	GM12878	blood:	n/a	chr10:56622384-56622395
21	EBF1	chr10:56657640-56657988	GM12878	blood:	n/a	n/a
22	EBF1	chr10:56660550-56660556	GM12878	blood:	n/a	n/a
23	FOS	chr10:56665496-56665555	MCF10A-Er-Src	breast:	n/a	chr10:56665524-56665532 chr10:56665522-56665533 chr10:56665524-56665532 chr10:56665522-56665534 chr10:56665522-56665533 chr10:56665525-56665532
24	FOS	chr10:56673768-56674514	HUVEC	blood vessel:	n/a	n/a
25	FOS	chr10:56665414-56665574	MCF10A-Er-Src	breast:	n/a	chr10:56665524-56665532 chr10:56665522-56665533 chr10:56665524-56665532 chr10:56665522-56665534 chr10:56665522-56665533 chr10:56665525-56665532
26	FOS	chr10:56665377-56665689	MCF10A-Er-Src	breast:	n/a	chr10:56665524-56665532 chr10:56665522-56665533 chr10:56665524-56665532 chr10:56665522-56665534 chr10:56665522-56665533 chr10:56665525-56665532
27	FOS	chr10:56666679-56667045	HUVEC	blood vessel:	n/a	chr10:56666895-56666905 chr10:56666896-56666903 chr10:56666896-56666904 chr10:56666836-56666848 chr10:56666894-56666905 chr10:56666896-56666904
28	FOS	chr10:56665405-56665898	HUVEC	blood vessel:	n/a	chr10:56665524-56665532 chr10:56665522-56665533 chr10:56665524-56665532 chr10:56665522-56665534 chr10:56665522-56665533 chr10:56665525-56665532
29	FOXA1	chr10:56626829-56627219	HepG2	liver:	n/a	chr10:56627074-56627086
30	FOXA1	chr10:56626901-56627150	HepG2	liver:	n/a	chr10:56627074-56627086
31	GATA2	chr10:56673729-56674313	HUVEC	blood vessel:	n/a	n/a
32	GATA3	chr10:56654942-56655111	SH-SY5Y	brain:	n/a	n/a
33	GATA3	chr10:56634854-56635041	SH-SY5Y	brain:	n/a	n/a
34	GATA3	chr10:56616828-56617018	SH-SY5Y	brain:	n/a	n/a
35	GATA3	chr10:56616553-56617368	MCF-7	breast:	n/a	chr10:56616631-56616641 chr10:56616633-56616643 chr10:56616628-56616644 chr10:56617056-56617077
36	GATA3	chr10:56665278-56665624	SH-SY5Y	brain:	n/a	chr10:56665342-56665349 chr10:56665342-56665349 chr10:56665337-56665353 chr10:56665342-56665349 chr10:56665335-56665356 chr10:56665342-56665352
37	MAFF	chr10:56666718-56667066	HepG2	liver:	n/a	chr10:56666894-56666912 chr10:56666893-56666907
38	MAFF	chr10:56616626-56616878	HepG2	liver:	n/a	chr10:56616760-56616778
39	MAFF	chr10:56666757-56667056	K562	blood:	n/a	chr10:56666894-56666912 chr10:56666893-56666907
40	MAFK	chr10:56666727-56667075	HepG2	liver:	n/a	chr10:56666893-56666907 chr10:56666892-56666908 chr10:56666896-56666906 chr10:56666895-56666910 chr10:56666890-56666910 chr10:56666810-56666821 chr10:56666894-56666903
41	MAFK	chr10:56616613-56616897	HepG2	liver:	n/a	chr10:56616761-56616775 chr10:56616762-56616778 chr10:56616762-56616773 chr10:56616763-56616774 chr10:56616763-56616774 chr10:56616762-56616773 chr10:56616762-56616777
42	MAFK	chr10:56666714-56667093	H1-hESC	embryonic stem cell:	n/a	chr10:56666893-56666907 chr10:56666892-56666908 chr10:56666896-56666906 chr10:56666895-56666910 chr10:56666890-56666910 chr10:56666810-56666821 chr10:56666894-56666903
43	MAFK	chr10:56666728-56667051	K562	blood:	n/a	chr10:56666893-56666907 chr10:56666892-56666908 chr10:56666896-56666906 chr10:56666895-56666910 chr10:56666890-56666910 chr10:56666810-56666821 chr10:56666894-56666903
44	MAFK	chr10:56616607-56616923	HepG2	liver:	n/a	chr10:56616761-56616775 chr10:56616762-56616778 chr10:56616762-56616773 chr10:56616763-56616774 chr10:56616763-56616774 chr10:56616762-56616773 chr10:56616762-56616777
45	MAFK	chr10:56666717-56667075	HepG2	liver:	n/a	chr10:56666893-56666907 chr10:56666892-56666908 chr10:56666896-56666906 chr10:56666895-56666910 chr10:56666890-56666910 chr10:56666810-56666821 chr10:56666894-56666903
46	MAFK	chr10:56666724-56667086	IMR90	lung:	n/a	chr10:56666893-56666907 chr10:56666892-56666908 chr10:56666896-56666906 chr10:56666895-56666910 chr10:56666890-56666910 chr10:56666810-56666821 chr10:56666894-56666903
47	MAFK	chr10:56637037-56637050	HepG2	liver:	n/a	n/a
48	MAX	chr10:56634762-56635028	NB4	blood:	n/a	n/a
49	MYC	chr10:56623714-56624090	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr10:56676187-56676359	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:56666396-56666446	BE2_C	brain:	n/a
2	chr10:56666396-56666446	RPTEC	kidney:	n/a
3	chr10:56666396-56666446	ProgFib	skin:	n/a
4	chr10:56666396-56666446	AG04449	skin:	fetal
5	chr10:56666396-56666446	AG09319	gingival:	n/a
6	chr10:56666396-56666446	BJ	skin:	n/a
7	chr10:56666396-56666446	K562	blood:	n/a
8	chr10:56666396-56666446	PFSK-1	brain:	n/a
9	chr10:56666396-56666446	Caco-2	colon:	n/a
10	chr10:56666396-56666446	HRPEpiC	eye:	n/a
11	chr10:56666396-56666446	NT2-D1	testis:	n/a
12	chr10:56666396-56666446	SKMC	muscle:	n/a
13	chr10:56666396-56666446	HEK293	kidney:	embryo
14	chr10:56666396-56666446	HRE	kidney:	n/a
15	chr10:56666396-56666446	HPAEpiC	pulmonary alveolar:	n/a
16	chr10:56666396-56666446	MCF10A-Er-Src	breast:	n/a
17	chr10:56666396-56666446	MCF-7	breast:	n/a
18	chr10:56666396-56666446	AG04450	lung:	fetal
19	chr10:56666396-56666446	AG09309	skin:	n/a
20	chr10:56666396-56666446	AoSMC	blood vessel:	n/a
21	chr10:56666396-56666446	HepG2	liver:	n/a
22	chr10:56666396-56666446	SAEC	small airway:	n/a
23	chr10:56666396-56666446	HCM	heart:	n/a
24	chr10:56666396-56666446	SK-N-MC	brain:	n/a
25	chr10:56666396-56666446	AG10803	skin:	n/a
26	chr10:56666396-56666446	HAEpiC	amniotic membrane:	n/a
27	chr10:56666396-56666446	ECC-1	luminal epithelium:	n/a
28	chr10:56666396-56666446	NB4	blood:	n/a
29	chr10:56666396-56666446	LNCaP	prostate:	n/a
30	chr10:56666396-56666446	Hela-S3	cervix:	n/a
31	chr10:56666396-56666446	HCF	heart:	n/a
32	chr10:56666396-56666446	SK-N-SH_RA	brain:	n/a
33	chr10:56666396-56666446	GM12891	blood:	n/a
34	chr10:56666396-56666446	Jurkat	blood:	n/a
35	chr10:56666396-56666446	HCT-116	colon:	n/a
36	chr10:56666396-56666446	ovcar-3	ovarian:	n/a
37	chr10:56666396-56666446	Hepatocyte	liver:	n/a
38	chr10:56666396-56666446	PrEC	prostate:	n/a
39	chr10:56666396-56666446	H1-hESC	embryonic stem cell:	embryo
40	chr10:56666396-56666446	T-47D	breast:	n/a
41	chr10:56666396-56666446	HMEC	breast:	n/a
42	chr10:56666396-56666446	GM12878	blood:	n/a
43	chr10:56666396-56666446	CMK	blood:	n/a
44	chr10:56666396-56666446	NHBE	bronchial:	n/a
45	chr10:56666396-56666446	GM12892	blood:	n/a
46	chr10:56666396-56666446	HNPCEpiC	eye:	n/a
47	chr10:56666396-56666446	U87	brain:	n/a
48	chr10:56666396-56666446	HRCEpiC	kidney:	n/a
49	chr10:56666396-56666446	HEEpiC	esophagus:	n/a
50	chr10:56666396-56666446	GM06990	blood:	n/a

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

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

Variant related genes	Relation type
ENSG00000236958	TF binding region
ENSG00000236958	CpG island

Extended variants
information (count: 653 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:653 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1840335	chr10:56614745-56614746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75471777	chr10:56614752-56614753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566428771	chr10:56614761-56614762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530213117	chr10:56614814-56614815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532167755	chr10:56614817-56614818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140736102	chr10:56614890-56614891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568985578	chr10:56614905-56614906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537982189	chr10:56614926-56614927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150086950	chr10:56614949-56614950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567793968	chr10:56614953-56614954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138552704	chr10:56614968-56614969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553408580	chr10:56614969-56614970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549800906	chr10:56614988-56614989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149273182	chr10:56615013-56615014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548399229	chr10:56615020-56615021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538654393	chr10:56615023-56615024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558568206	chr10:56615066-56615067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116047416	chr10:56615070-56615071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73256033	chr10:56615076-56615077	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs561121282	chr10:56615090-56615091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145297453	chr10:56615149-56615150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540493637	chr10:56615172-56615173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560466780	chr10:56615187-56615188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577331354	chr10:56624323-56624324	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs546361349	chr10:56624345-56624346	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs556506463	chr10:56624367-56624368	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs576668779	chr10:56624393-56624394	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs542583634	chr10:56624407-56624408	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs562018995	chr10:56624439-56624440	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs544860627	chr10:56624475-56624476	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs143054676	chr10:56624503-56624504	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs188862076	chr10:56624519-56624520	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs111958084	chr10:56624532-56624533	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs564591148	chr10:56624552-56624553	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs148146229	chr10:56624556-56624557	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs143914077	chr10:56626847-56626848	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs188493394	chr10:56626857-56626858	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs12764813	chr10:56626860-56626861	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs543209860	chr10:56626899-56626900	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs16906618	chr10:56626918-56626919	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs144270549	chr10:56626957-56626958	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs375627551	chr10:56627028-56627029	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs111822402	chr10:56627069-56627070	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs530329989	chr10:56627134-56627135	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs529738585	chr10:56627184-56627185	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs540297304	chr10:56627212-56627213	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs7913159	chr10:56627225-56627226	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs532260259	chr10:56627233-56627234	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs559618698	chr10:56627243-56627244	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs551678796	chr10:56627253-56627254	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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56611600-56615000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:56615000-56615200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr10:56626800-56629000	Active TSS	Right Ventricle	heart
4	chr10:56628000-56628800	Active TSS	Left Ventricle	heart
5	chr10:56628400-56631200	Enhancers	Fetal Heart	heart
6	chr10:56629600-56629800	Enhancers	Left Ventricle	heart
7	chr10:56654200-56654800	Enhancers	Fetal Heart	heart
8	chr10:56662000-56663000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr10:56662200-56662600	Enhancers	H9 Cell Line	embryonic stem cell
10	chr10:56662200-56663000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr10:56662200-56663000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr10:56662400-56662800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr10:56662400-56663000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr10:56662800-56666600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr10:56663000-56666600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr10:56663000-56674000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr10:56663600-56663800	Enhancers	Brain Germinal Matrix	brain
18	chr10:56664400-56667000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr10:56665200-56666000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr10:56665400-56665800	Enhancers	Brain Germinal Matrix	brain
21	chr10:56666600-56667000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr10:56666600-56667000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr10:56666600-56667000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr10:56669000-56669400	Enhancers	Fetal Muscle Trunk	muscle
25	chr10:56673800-56674200	Enhancers	HUVEC	blood vessel

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