Variant report

Variant	nsv1060666
Chromosome Location	chr22:33800218-33841525
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	chr22:33834200-33834439	H1-hESC	embryonic stem cell:	n/a	n/a
2	BATF	chr22:33800746-33801000	GM12878	blood:	n/a	n/a
3	BCL3	chr22:33834070-33834608	A549	lung:	n/a	n/a
4	CEBPB	chr22:33808640-33808659	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr22:33801354-33801607	HepG2	liver:	n/a	chr22:33801459-33801470 chr22:33801459-33801468
6	CTCF	chr22:33834440-33834590	HCPEpiC	choroid plexus:	n/a	n/a
7	CTCF	chr22:33834440-33834590	NHEK	skin:	n/a	n/a
8	CTCF	chr22:33834520-33834670	HMEC	breast:	n/a	chr22:33834610-33834623
9	CTCF	chr22:33818100-33818250	Caco-2	colon:	n/a	n/a
10	CTCF	chr22:33814520-33814670	WERI-Rb-1	eye:	n/a	n/a
11	CTCF	chr22:33834486-33834560	NHEK	skin:	n/a	n/a
12	CTCF	chr22:33834520-33834670	AG04449	skin:	n/a	chr22:33834610-33834623
13	CTCF	chr22:33817900-33818050	RPTEC	kidney:	n/a	n/a
14	CTCF	chr22:33834500-33834650	HMEC	breast:	n/a	chr22:33834610-33834623
15	CTCF	chr22:33814580-33814730	WERI-Rb-1	eye:	n/a	n/a
16	CTCF	chr22:33834460-33834610	HBMEC	blood vessel:	n/a	n/a
17	EBF1	chr22:33834040-33834370	GM12878	blood:	n/a	chr22:33834231-33834242 chr22:33834220-33834231 chr22:33834221-33834230 chr22:33834219-33834232
18	EBF1	chr22:33834025-33834445	GM12878	blood:	n/a	chr22:33834231-33834242 chr22:33834220-33834231 chr22:33834221-33834230 chr22:33834219-33834232
19	EBF1	chr22:33834037-33834397	GM12878	blood:	n/a	chr22:33834231-33834242 chr22:33834220-33834231 chr22:33834221-33834230 chr22:33834219-33834232
20	EBF1	chr22:33839165-33839419	GM12878	blood:	n/a	chr22:33839303-33839313 chr22:33839301-33839314 chr22:33839303-33839312
21	ELK1	chr22:33833711-33833749	GM12878	blood:	n/a	n/a
22	ELK1	chr22:33814719-33814754	GM12878	blood:	n/a	n/a
23	EP300	chr22:33833942-33834726	A549	lung:	n/a	chr22:33834244-33834251
24	EP300	chr22:33800664-33801078	HepG2	liver:	n/a	n/a
25	EP300	chr22:33834105-33834637	A549	lung:	n/a	chr22:33834244-33834251
26	FOS	chr22:33834207-33834493	MCF10A-Er-Src	breast:	n/a	chr22:33834330-33834339
27	FOS	chr22:33834182-33834529	MCF10A-Er-Src	breast:	n/a	chr22:33834330-33834339
28	FOS	chr22:33834204-33834529	MCF10A-Er-Src	breast:	n/a	chr22:33834330-33834339
29	FOS	chr22:33834258-33834525	MCF10A-Er-Src	breast:	n/a	chr22:33834330-33834339
30	FOSL2	chr22:33826615-33826868	HepG2	liver:	n/a	n/a
31	FOSL2	chr22:33834058-33834677	A549	lung:	n/a	chr22:33834585-33834599 chr22:33834330-33834339
32	FOSL2	chr22:33834185-33834589	MCF-7	breast:	n/a	chr22:33834330-33834339
33	FOSL2	chr22:33829461-33829664	HepG2	liver:	n/a	n/a
34	FOSL2	chr22:33834160-33834506	A549	lung:	n/a	chr22:33834330-33834339
35	FOXA1	chr22:33804801-33805065	T-47D	breast:	n/a	n/a
36	FOXA2	chr22:33834132-33834480	A549	lung:	n/a	n/a
37	FOXA2	chr22:33834096-33834640	A549	lung:	n/a	n/a
38	FOXA2	chr22:33829471-33829716	A549	lung:	n/a	n/a
39	GATA2	chr22:33810450-33810746	SH-SY5Y	brain:	n/a	chr22:33810468-33810477 chr22:33810594-33810615
40	GATA3	chr22:33810462-33810770	SH-SY5Y	brain:	n/a	chr22:33810468-33810477 chr22:33810594-33810615
41	GATA3	chr22:33833921-33834723	A549	lung:	n/a	chr22:33834332-33834341
42	HNF4A	chr22:33826575-33826858	HepG2	liver:	n/a	chr22:33826702-33826710 chr22:33826703-33826711 chr22:33826734-33826741
43	JUND	chr22:33825041-33825299	HepG2	liver:	n/a	chr22:33825182-33825191 chr22:33825182-33825192 chr22:33825181-33825193 chr22:33825183-33825190 chr22:33825183-33825191 chr22:33825181-33825192
44	JUND	chr22:33834169-33834621	A549	lung:	n/a	chr22:33834585-33834599 chr22:33834330-33834339
45	JUND	chr22:33800917-33800976	HepG2	liver:	n/a	chr22:33800921-33800931 chr22:33800921-33800931
46	KAP1	chr22:33834312-33834551	HEK293	kidney:	n/a	n/a
47	MAFF	chr22:33834257-33834457	K562	blood:	n/a	n/a
48	MAFF	chr22:33827332-33827666	HepG2	liver:	n/a	n/a
49	MAFK	chr22:33827352-33827632	IMR90	lung:	n/a	chr22:33827500-33827515
50	MAFK	chr22:33834008-33834776	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:33824218..33826248-chr22:33829091..33830627,2	MCF-7	breast:
2	chr22:33826221..33828441-chr22:33835268..33837530,2	MCF-7	breast:
3	chr22:33791457..33793714-chr22:33799234..33801837,2	MCF-7	breast:
4	chr22:33824218..33826248-chr22:33829091..33830627,2	MCF-7	breast:
5	chr22:33834090..33836175-chr22:34315655..34317389,2	MCF-7	breast:
6	chr22:33826221..33828441-chr22:33835268..33837530,2	MCF-7	breast:
7	chr22:33803279..33805920-chr22:33806998..33808541,2	MCF-7	breast:
8	chr22:33803279..33805920-chr22:33806998..33808541,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SYN3-6	chr22:33814788-33816593	NONHSAT085002

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4764-5p	chr22:33832626-33832646	MIMAT0019914
hsa-miR-4764-3p	chr22:33832574-33832595	MIMAT0019915

Variant related genes	Relation type
MIR4764	TF binding region
ENSG00000133424	chromatin interactions

Extended variants
information (count: 1691 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1691 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181325525	chr22:33800241-33800242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373747525	chr22:33800287-33800288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565480765	chr22:33800298-33800299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570216440	chr22:33800316-33800317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544271239	chr22:33800412-33800413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534079124	chr22:33800414-33800415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575967604	chr22:33800436-33800437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539193663	chr22:33800456-33800457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148401112	chr22:33800470-33800471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142569529	chr22:33800476-33800477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541786139	chr22:33800535-33800536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544568259	chr22:33800613-33800614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs117803341	chr22:33800628-33800629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575971703	chr22:33800665-33800666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185379071	chr22:33800674-33800675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561669221	chr22:33800696-33800697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376764885	chr22:33800720-33800721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189846835	chr22:33800746-33800747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34225965	chr22:33800766-33800767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113829685	chr22:33800866-33800867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182906475	chr22:33800869-33800870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187503965	chr22:33800870-33800871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs5754543	chr22:33800922-33800923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201419865	chr22:33800930-33800931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564848728	chr22:33800933-33800934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs578172906	chr22:33800934-33800935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561657979	chr22:33800967-33800968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540857920	chr22:33800987-33800988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114238263	chr22:33801011-33801012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77386600	chr22:33801022-33801023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192298159	chr22:33801048-33801049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570353035	chr22:33801085-33801086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560448409	chr22:33801095-33801096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539232720	chr22:33801129-33801130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2267198	chr22:33801143-33801144	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs566531067	chr22:33801158-33801159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183663909	chr22:33801230-33801231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34505381	chr22:33801270-33801271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555299457	chr22:33801325-33801326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537404299	chr22:33801334-33801335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575311334	chr22:33801339-33801340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139925751	chr22:33801346-33801347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2267199	chr22:33801379-33801380	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs560178399	chr22:33801450-33801451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561435980	chr22:33801456-33801457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs578085832	chr22:33801499-33801500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs9306276	chr22:33801506-33801507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540794360	chr22:33801608-33801609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560399128	chr22:33801658-33801659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574039762	chr22:33801660-33801661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:413 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33775600-33800400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr22:33778200-33800800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr22:33778600-33801000	Weak transcription	GM12878-XiMat	blood
4	chr22:33778600-33852000	Weak transcription	Pancreas	Pancrea
5	chr22:33778800-33800400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr22:33780000-33818000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr22:33780200-33802800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr22:33780600-33805200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr22:33780600-33834000	Weak transcription	Gastric	stomach
10	chr22:33780800-33823000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr22:33781200-33814800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr22:33789800-33800400	Weak transcription	Psoas Muscle	Psoas
13	chr22:33790200-33800400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr22:33791400-33801000	Weak transcription	HSMM	muscle
15	chr22:33792800-33811000	Weak transcription	Aorta	Aorta
16	chr22:33795000-33801000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr22:33797000-33814800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr22:33797000-33817800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr22:33797200-33800400	Weak transcription	Right Ventricle	heart
20	chr22:33797400-33806800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr22:33797400-33810600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr22:33797400-33818200	Weak transcription	Fetal Stomach	stomach
23	chr22:33797800-33800800	Weak transcription	HSMMtube	muscle
24	chr22:33797800-33802400	Enhancers	HepG2	liver
25	chr22:33797800-33817800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr22:33798000-33822800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr22:33798200-33823400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr22:33798600-33826000	Weak transcription	Ovary	ovary
29	chr22:33799000-33825600	Weak transcription	Liver	Liver
30	chr22:33800000-33800600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr22:33800000-33801200	Enhancers	Fetal Intestine Small	intestine
32	chr22:33800000-33802000	Enhancers	Fetal Heart	heart
33	chr22:33800000-33826200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr22:33800200-33802400	Enhancers	Left Ventricle	heart
35	chr22:33800400-33800600	Enhancers	Duodenum Mucosa	Duodenum
36	chr22:33800400-33800600	Enhancers	Psoas Muscle	Psoas
37	chr22:33800400-33801400	Enhancers	Right Atrium	heart
38	chr22:33800400-33801400	Enhancers	Right Ventricle	heart
39	chr22:33800400-33801800	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr22:33800400-33802000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr22:33800600-33801200	Weak transcription	Psoas Muscle	Psoas
42	chr22:33800600-33805000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr22:33800800-33801000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr22:33800800-33801200	Enhancers	HSMMtube	muscle
45	chr22:33800800-33801400	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr22:33800800-33802000	Enhancers	Fetal Lung	lung
47	chr22:33801000-33801400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr22:33801000-33801600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr22:33801000-33801600	Enhancers	HSMM	muscle
50	chr22:33801000-33801800	Enhancers	GM12878-XiMat	blood

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