Variant report

Variant	nsv964557
Chromosome Location	chr22:33549670-33560098
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	CTCF	chr22:33560064-33560183	MCF-7	breast:	n/a	n/a
2	CTCF	chr22:33560040-33560190	MCF-7	breast:	n/a	n/a
3	CTCF	chr22:33560080-33560230	MCF-7	breast:	n/a	n/a
4	CTCF	chr22:33560095-33560196	MCF-7	breast:	n/a	n/a
5	CTCF	chr22:33551862-33551953	Fibrobl	skin:	n/a	n/a
6	GATA2	chr22:33558184-33558572	SH-SY5Y	brain:	n/a	n/a
7	GATA3	chr22:33558270-33558685	SH-SY5Y	brain:	n/a	n/a
8	IRF3	chr22:33556140-33556146	GM12878	blood:	n/a	n/a
9	KAP1	chr22:33551125-33551198	HEK293	kidney:	n/a	n/a
10	MAFF	chr22:33559794-33560208	K562	blood:	n/a	chr22:33559958-33559976
11	MAFF	chr22:33559800-33560145	HepG2	liver:	n/a	chr22:33559958-33559976
12	MAFK	chr22:33559786-33560174	HepG2	liver:	n/a	chr22:33559959-33559974 chr22:33559959-33559975
13	MAFK	chr22:33559840-33560065	K562	blood:	n/a	chr22:33559959-33559974 chr22:33559959-33559975
14	MAFK	chr22:33559787-33560147	IMR90	lung:	n/a	chr22:33559959-33559974 chr22:33559959-33559975
15	MAFK	chr22:33559791-33560116	HepG2	liver:	n/a	chr22:33559959-33559974 chr22:33559959-33559975
16	MAFK	chr22:33559880-33560071	Hela-S3	cervix:	n/a	chr22:33559959-33559974 chr22:33559959-33559975
17	POLR2A	chr22:33556390-33556780	H1-neurons	neurons:	n/a	n/a
18	REST	chr22:33559976-33560520	H1-neurons	neurons:	n/a	n/a
19	SETDB1	chr22:33558145-33558519	U2OS	brain:	n/a	n/a
20	SPI1	chr22:33555014-33555196	K562	blood:	n/a	chr22:33555136-33555149 chr22:33555135-33555148 chr22:33555133-33555142 chr22:33555136-33555149 chr22:33555137-33555146
21	SPI1	chr22:33555024-33555237	GM12878	blood:	n/a	chr22:33555136-33555149 chr22:33555135-33555148 chr22:33555133-33555142 chr22:33555136-33555149 chr22:33555137-33555146
22	SPI1	chr22:33554975-33555317	HL-60	blood:	n/a	chr22:33555136-33555149 chr22:33555135-33555148 chr22:33555133-33555142 chr22:33555136-33555149 chr22:33555137-33555146
23	SPI1	chr22:33555023-33555245	GM12891	blood:	n/a	chr22:33555136-33555149 chr22:33555135-33555148 chr22:33555133-33555142 chr22:33555136-33555149 chr22:33555137-33555146
24	SPI1	chr22:33554990-33555246	HL-60	blood:	n/a	chr22:33555136-33555149 chr22:33555135-33555148 chr22:33555133-33555142 chr22:33555136-33555149 chr22:33555137-33555146

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TIMP3-4	chr22:33560049-33560356	XLOC_014216

Variant related genes	Relation type
ENSG00000232073	TF binding region

Extended variants
information (count: 92 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73881975	chr22:33555104-33555105	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs5998765	chr22:33555127-33555128	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs35206806	chr22:33555173-33555174	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs370481221	chr22:33555264-33555265	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs552699710	chr22:33556402-33556403	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs559713764	chr22:33556440-33556441	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs528450043	chr22:33556446-33556447	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs528538477	chr22:33556471-33556472	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs548255557	chr22:33556519-33556520	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs193247074	chr22:33556521-33556522	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs537038273	chr22:33556536-33556537	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs1894487	chr22:33556550-33556551	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs569884001	chr22:33556586-33556587	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs538564675	chr22:33556592-33556593	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs558682360	chr22:33556646-33556647	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs572166622	chr22:33556754-33556755	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs553381771	chr22:33558005-33558006	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs183584281	chr22:33558029-33558030	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs541971559	chr22:33558043-33558044	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs561953834	chr22:33558059-33558060	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs528287921	chr22:33558067-33558068	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs530877246	chr22:33558072-33558073	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs537941328	chr22:33558119-33558120	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs544399864	chr22:33558146-33558147	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs564629855	chr22:33558163-33558164	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs370700844	chr22:33558202-33558203	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs533155083	chr22:33558265-33558266	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs547021818	chr22:33558387-33558388	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs373649878	chr22:33558404-33558405	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs528407479	chr22:33558497-33558498	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs548372924	chr22:33558500-33558501	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs568284257	chr22:33558510-33558511	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs16991908	chr22:33558525-33558526	ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs574140542	chr22:33558562-33558563	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs568526035	chr22:33558673-33558674	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs536882370	chr22:33558681-33558682	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs570568300	chr22:33558686-33558687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539059436	chr22:33558699-33558700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2227080	chr22:33558767-33558768	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs573222723	chr22:33558807-33558808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34541047	chr22:33558838-33558839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550526142	chr22:33558872-33558873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573159790	chr22:33558876-33558877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141599807	chr22:33558879-33558880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542131339	chr22:33559029-33559030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62232857	chr22:33559108-33559109	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs575410782	chr22:33559121-33559122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570819585	chr22:33559130-33559131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537927160	chr22:33559132-33559133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564413032	chr22:33559143-33559144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Deafness	17160897	CNVD
Bipolar disorder	19114987	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33557800-33558600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr22:33558600-33559200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr22:33559200-33559400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr22:33559400-33559600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr22:33559400-33560600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr22:33559600-33559800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr22:33559600-33559800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
8	chr22:33559600-33560400	Enhancers	Pancreas	Pancrea
9	chr22:33560000-33560200	Enhancers	HUES6 Cell Line	embryonic stem cell

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