Variant report

Variant	nsv1065150
Chromosome Location	chr22:34385872-34409899
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	chr22:34392790-34393312	HepG2	liver:	n/a	n/a
2	ARID3A	chr22:34397243-34397472	HepG2	liver:	n/a	n/a
3	CEBPB	chr22:34388430-34388714	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr22:34388421-34388741	IMR90	lung:	n/a	n/a
5	CEBPB	chr22:34388413-34388764	HepG2	liver:	n/a	n/a
6	CEBPB	chr22:34388438-34388654	K562	blood:	n/a	n/a
7	CEBPB	chr22:34388466-34388743	A549	lung:	n/a	n/a
8	CEBPB	chr22:34404199-34404478	HepG2	liver:	n/a	chr22:34404318-34404335 chr22:34404320-34404331 chr22:34404319-34404332 chr22:34404319-34404330
9	CEBPB	chr22:34390782-34390933	HepG2	liver:	n/a	chr22:34390823-34390834
10	CEBPB	chr22:34397264-34397428	HepG2	liver:	n/a	chr22:34397353-34397364 chr22:34397354-34397365 chr22:34397353-34397366
11	CEBPB	chr22:34397170-34397548	HepG2	liver:	n/a	chr22:34397353-34397364 chr22:34397354-34397365 chr22:34397483-34397500 chr22:34397353-34397366
12	CTCF	chr22:34401894-34401961	K562	blood:	n/a	n/a
13	EP300	chr22:34392786-34393229	HepG2	liver:	n/a	n/a
14	FOSL2	chr22:34398139-34398439	HepG2	liver:	n/a	chr22:34398245-34398256 chr22:34398289-34398300
15	FOSL2	chr22:34398106-34398453	HepG2	liver:	n/a	chr22:34398245-34398256 chr22:34398289-34398300
16	FOXA1	chr22:34400150-34400442	HepG2	liver:	n/a	n/a
17	FOXA1	chr22:34392856-34393165	HepG2	liver:	n/a	n/a
18	FOXA1	chr22:34400175-34400407	T-47D	breast:	n/a	n/a
19	FOXA1	chr22:34392692-34393287	HepG2	liver:	n/a	n/a
20	FOXA1	chr22:34400059-34400438	HepG2	liver:	n/a	n/a
21	FOXA1	chr22:34400073-34400408	HepG2	liver:	n/a	n/a
22	FOXA1	chr22:34392706-34393193	HepG2	liver:	n/a	n/a
23	FOXA1	chr22:34400044-34400461	HepG2	liver:	n/a	n/a
24	FOXA1	chr22:34392890-34393230	HepG2	liver:	n/a	n/a
25	FOXA2	chr22:34400139-34400371	HepG2	liver:	n/a	n/a
26	FOXA2	chr22:34392891-34393121	HepG2	liver:	n/a	n/a
27	HNF4A	chr22:34397147-34397448	HepG2	liver:	n/a	chr22:34397382-34397397 chr22:34397383-34397396 chr22:34397383-34397397 chr22:34397384-34397396 chr22:34397384-34397397 chr22:34397382-34397397 chr22:34397382-34397397 chr22:34397383-34397397 chr22:34397384-34397396 chr22:34397382-34397397 chr22:34397381-34397399 chr22:34397382-34397397 chr22:34397384-34397396
28	HNF4A	chr22:34392790-34393126	HepG2	liver:	n/a	n/a
29	HNF4A	chr22:34397230-34397444	HepG2	liver:	n/a	chr22:34397382-34397397 chr22:34397383-34397396 chr22:34397383-34397397 chr22:34397384-34397396 chr22:34397384-34397397 chr22:34397382-34397397 chr22:34397382-34397397 chr22:34397383-34397397 chr22:34397384-34397396 chr22:34397382-34397397 chr22:34397381-34397399 chr22:34397382-34397397 chr22:34397384-34397396
30	HNF4A	chr22:34392803-34393097	HepG2	liver:	n/a	n/a
31	HNF4G	chr22:34397269-34397486	HepG2	liver:	n/a	chr22:34397383-34397398 chr22:34397382-34397397 chr22:34397383-34397396 chr22:34397383-34397397 chr22:34397384-34397396 chr22:34397384-34397397 chr22:34397382-34397397 chr22:34397383-34397397 chr22:34397384-34397396 chr22:34397382-34397397 chr22:34397381-34397399 chr22:34397382-34397397 chr22:34397384-34397396
32	HNF4G	chr22:34392837-34393124	HepG2	liver:	n/a	n/a
33	HNF4G	chr22:34392782-34393200	HepG2	liver:	n/a	n/a
34	JUND	chr22:34398177-34398382	HepG2	liver:	n/a	chr22:34398246-34398257
35	MAFK	chr22:34404503-34404681	HepG2	liver:	n/a	n/a
36	NR2F2	chr22:34392736-34393235	HepG2	liver:	n/a	n/a
37	POLR2A	chr22:34397828-34397874	MCF-7	breast:	n/a	n/a
38	POLR2A	chr22:34409859-34409923	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr22:34399802-34400002	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr22:34394058-34394258	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr22:34394969-34395411	MCF10A-Er-Src	breast:	n/a	n/a
42	RXRA	chr22:34392910-34393122	HepG2	liver:	n/a	n/a
43	SETDB1	chr22:34395702-34396224	U2OS	brain:	n/a	n/a
44	SP1	chr22:34392762-34393180	HepG2	liver:	n/a	n/a
45	SPI1	chr22:34387236-34387524	GM12891	blood:	n/a	chr22:34387424-34387437
46	SPI1	chr22:34387237-34387515	GM12891	blood:	n/a	chr22:34387424-34387437
47	YY1	chr22:34388133-34388457	H1-hESC	embryonic stem cell:	n/a	chr22:34388287-34388299 chr22:34388288-34388296 chr22:34388282-34388301

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:34409232..34410755-chr22:34412827..34414607,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236052	TF binding region
ENSG00000236052	chromatin interactions

Extended variants
information (count: 438 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:438 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs243249	chr22:34385872-34385873	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554977147	chr22:34385898-34385899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555992824	chr22:34385914-34385915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62225095	chr22:34385915-34385916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77716722	chr22:34385919-34385920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184407205	chr22:34385926-34385927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577806351	chr22:34386020-34386021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560673810	chr22:34386053-34386054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370801943	chr22:34386054-34386055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372115839	chr22:34386060-34386061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs243250	chr22:34386078-34386079	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs529049315	chr22:34386079-34386080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs723568	chr22:34386083-34386084	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs139539994	chr22:34386103-34386104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144178013	chr22:34386119-34386120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7291812	chr22:34386120-34386121	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs371137398	chr22:34386124-34386125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77658378	chr22:34386164-34386165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539523990	chr22:34386208-34386209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546662164	chr22:34386217-34386218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs395944	chr22:34386234-34386235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536004787	chr22:34386301-34386302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146579930	chr22:34386307-34386308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149162039	chr22:34386313-34386314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79757958	chr22:34386324-34386325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557773342	chr22:34386425-34386426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577743685	chr22:34386452-34386453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142429037	chr22:34386469-34386470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560150127	chr22:34386471-34386472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7286472	chr22:34386473-34386474	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
31	rs151294525	chr22:34386499-34386500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188845236	chr22:34386506-34386507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531486470	chr22:34386516-34386517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567670535	chr22:34386520-34386521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527328607	chr22:34386552-34386553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372691598	chr22:34386582-34386583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140634993	chr22:34386614-34386615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35703411	chr22:34386634-34386635	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs150486373	chr22:34386644-34386645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560082528	chr22:34386649-34386650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546598925	chr22:34386650-34386651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369917329	chr22:34386716-34386717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138522317	chr22:34386739-34386740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529417270	chr22:34386830-34386831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143892264	chr22:34386868-34386869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs202000793	chr22:34386870-34386871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113409004	chr22:34386871-34386872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs66588826	chr22:34386872-34386873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11283704	chr22:34386873-34386874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199850856	chr22:34386874-34386875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34381600-34386000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:34383000-34387800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr22:34383400-34386000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr22:34383400-34387600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr22:34383400-34388000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr22:34386000-34386400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr22:34387600-34388200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr22:34387600-34388200	Enhancers	NHEK	skin
9	chr22:34387600-34388400	Enhancers	Liver	Liver
10	chr22:34388000-34388200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr22:34388000-34388200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr22:34392200-34392800	Enhancers	Liver	Liver
13	chr22:34392200-34394000	Enhancers	HepG2	liver
14	chr22:34392800-34393000	Flanking Active TSS	Liver	Liver
15	chr22:34393000-34393200	Enhancers	Liver	Liver
16	chr22:34393200-34394000	Flanking Active TSS	Liver	Liver
17	chr22:34394000-34395000	Weak transcription	Liver	Liver
18	chr22:34395000-34395400	Enhancers	Liver	Liver
19	chr22:34395400-34395800	Weak transcription	Liver	Liver
20	chr22:34395800-34399400	Enhancers	Liver	Liver
21	chr22:34396800-34399000	Enhancers	HepG2	liver
22	chr22:34397600-34398200	Enhancers	NHEK	skin
23	chr22:34397600-34398400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr22:34397800-34398200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr22:34397800-34398400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr22:34400000-34400600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr22:34400000-34401000	Enhancers	Lung	lung
28	chr22:34400600-34400800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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