Variant report

Variant	nsv966100
Chromosome Location	chr22:30530653-30547684
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	ARID3A	chr22:30543067-30543100	K562	blood:	n/a	n/a
2	CBX3	chr22:30545465-30545819	HCT-116	colon:	n/a	n/a
3	CEBPB	chr22:30540308-30540629	K562	blood:	n/a	n/a
4	CEBPB	chr22:30541131-30541314	HepG2	liver:	n/a	n/a
5	CTCF	chr22:30537038-30537044	Fibrobl	skin:	n/a	n/a
6	CTCF	chr22:30537045-30537055	Fibrobl	skin:	n/a	n/a
7	CTCF	chr22:30537005-30537033	Fibrobl	skin:	n/a	n/a
8	ELK1	chr22:30532231-30532240	GM12878	blood:	n/a	n/a
9	EP300	chr22:30546435-30546440	GM12878	blood:	n/a	n/a
10	ESR1	chr22:30532447-30532782	ECC-1	luminal epithelium:	n/a	n/a
11	GATA3	chr22:30532013-30532079	SH-SY5Y	brain:	n/a	n/a
12	JUND	chr22:30546117-30546149	H1-hESC	embryonic stem cell:	n/a	n/a
13	KAP1	chr22:30542935-30543206	K562	blood:	n/a	n/a
14	KAP1	chr22:30539281-30539665	U2OS	brain:	n/a	n/a
15	KAP1	chr22:30539258-30539717	HEK293	kidney:	n/a	n/a
16	MAFF	chr22:30536496-30536750	HepG2	liver:	n/a	chr22:30536601-30536619
17	MAFK	chr22:30536486-30536768	IMR90	lung:	n/a	chr22:30536602-30536617
18	MAFK	chr22:30536428-30536763	HepG2	liver:	n/a	chr22:30536602-30536617
19	MAFK	chr22:30536530-30536746	HepG2	liver:	n/a	chr22:30536602-30536617
20	SETDB1	chr22:30538883-30539916	U2OS	brain:	n/a	n/a
21	SETDB1	chr22:30545389-30546055	U2OS	brain:	n/a	n/a
22	STAT3	chr22:30532091-30532201	MCF10A-Er-Src	breast:	n/a	n/a
23	STAT3	chr22:30532167-30532234	MCF10A-Er-Src	breast:	n/a	n/a
24	STAT3	chr22:30531741-30531941	MCF10A-Er-Src	breast:	n/a	n/a
25	TAL1	chr22:30540412-30540776	K562	blood:	n/a	n/a
26	WRNIP1	chr22:30540630-30540641	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:30538829..30541820-chr22:30591024..30593094,2	K562	blood:
2	chr22:30539344..30542315-chr22:30542673..30545492,2	K562	blood:
3	chr22:30539344..30542315-chr22:30542673..30545492,2	K562	blood:

Variant related genes	Relation type
ENSG00000225971	TF binding region

Extended variants
information (count: 392 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:392 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546390274	chr22:30533654-30533655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535757221	chr22:30533730-30533731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs117676187	chr22:30533752-30533753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569170737	chr22:30533764-30533765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs117065079	chr22:30533775-30533776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557921901	chr22:30533777-30533778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572870156	chr22:30533818-30533819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77394949	chr22:30533826-30533827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs56157019	chr22:30533832-30533833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555073984	chr22:30533848-30533849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573340085	chr22:30533853-30533854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192115030	chr22:30533855-30533856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs5763801	chr22:30533929-30533930	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs563664533	chr22:30534032-30534033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142663191	chr22:30534080-30534081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546095558	chr22:30534088-30534089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145746957	chr22:30534139-30534140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs13056990	chr22:30534161-30534162	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs537466167	chr22:30534190-30534191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374725442	chr22:30535407-30535408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182473749	chr22:30535498-30535499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553529357	chr22:30535530-30535531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73164728	chr22:30535569-30535570	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs538704456	chr22:30535576-30535577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372299043	chr22:30535647-30535648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141731823	chr22:30535673-30535674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566649256	chr22:30535697-30535698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186905614	chr22:30535732-30535733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548748640	chr22:30535783-30535784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567034870	chr22:30535861-30535862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537519290	chr22:30535867-30535868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555742331	chr22:30535918-30535919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs118131178	chr22:30535937-30535938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192739151	chr22:30535939-30535940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs36099958	chr22:30535944-30535945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs66977637	chr22:30535945-30535946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113842019	chr22:30535951-30535952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs386395189	chr22:30535952-30535953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs60030763	chr22:30535963-30535964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574857964	chr22:30535964-30535965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573438840	chr22:30535986-30535987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9608847	chr22:30536056-30536057	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs562230164	chr22:30536083-30536084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9614148	chr22:30536091-30536092	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs184284228	chr22:30536099-30536100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562882112	chr22:30536103-30536104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533407576	chr22:30536144-30536145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551462107	chr22:30536182-30536183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565455717	chr22:30536232-30536233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113704691	chr22:30536266-30536267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
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
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	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
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medullary thyroid carcinoma	18765511	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	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD
Melanoma	17363583	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30533600-30534200	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr22:30535400-30539600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr22:30539600-30540000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr22:30540200-30541000	Enhancers	K562	blood
5	chr22:30540800-30541000	Enhancers	Osteobl	bone
6	chr22:30540800-30541600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr22:30541000-30555200	Weak transcription	Osteobl	bone
8	chr22:30545400-30550200	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr22:30546000-30547400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr22:30546000-30550000	Enhancers	Primary B cells from cord blood	blood
11	chr22:30546200-30547200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr22:30546400-30546800	Enhancers	Fetal Thymus	thymus
13	chr22:30546400-30547000	Enhancers	Primary B cells from peripheral blood	blood
14	chr22:30546400-30547000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr22:30546400-30547200	Enhancers	Primary hematopoietic stem cells	blood
16	chr22:30546400-30547200	Enhancers	Thymus	Thymus
17	chr22:30547000-30548000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr22:30547000-30550000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr22:30547200-30555400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr22:30547200-30555600	Weak transcription	Thymus	Thymus

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