Variant report

Variant	nsv979756
Chromosome Location	chr22:32669633-32681470
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	CEBPB	chr22:32670322-32670504	IMR90	lung:	n/a	chr22:32670377-32670390 chr22:32670378-32670389
2	CEBPB	chr22:32670356-32670376	HepG2	liver:	n/a	n/a
3	CTCF	chr22:32677288-32677323	NHEK	skin:	n/a	n/a
4	CTCF	chr22:32677593-32677638	Lung_OC	lung:	n/a	n/a
5	FOS	chr22:32677066-32677422	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr22:32677071-32677438	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr22:32677074-32677421	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr22:32677064-32677402	MCF10A-Er-Src	breast:	n/a	n/a
9	MAFK	chr22:32669561-32669799	HepG2	liver:	n/a	chr22:32669644-32669655 chr22:32669644-32669655 chr22:32669644-32669659 chr22:32669649-32669659
10	MAFK	chr22:32672325-32672479	HepG2	liver:	n/a	n/a
11	MAFK	chr22:32672265-32672540	HepG2	liver:	n/a	n/a
12	MAFK	chr22:32669529-32669766	HepG2	liver:	n/a	chr22:32669644-32669655 chr22:32669644-32669655 chr22:32669644-32669659 chr22:32669649-32669659
13	MAX	chr22:32677092-32677543	ECC-1	luminal epithelium:	n/a	n/a
14	MAX	chr22:32677088-32677536	ECC-1	luminal epithelium:	n/a	n/a
15	MYC	chr22:32675894-32675964	MCF-7	breast:	n/a	n/a
16	MYC	chr22:32677055-32677480	MCF10A-Er-Src	breast:	n/a	n/a
17	MYC	chr22:32677068-32677481	MCF10A-Er-Src	breast:	n/a	n/a
18	NFIC	chr22:32676991-32677450	ECC-1	luminal epithelium:	n/a	n/a
19	NFIC	chr22:32677046-32677499	ECC-1	luminal epithelium:	n/a	n/a
20	NR3C1	chr22:32677221-32677371	A549	lung:	n/a	chr22:32677278-32677292
21	NR3C1	chr22:32677105-32677466	A549	lung:	n/a	chr22:32677278-32677292
22	NR3C1	chr22:32677117-32677380	ECC-1	luminal epithelium:	n/a	chr22:32677278-32677292
23	NR3C1	chr22:32677000-32677565	A549	lung:	n/a	chr22:32677278-32677292
24	NR3C1	chr22:32677174-32677432	A549	lung:	n/a	chr22:32677278-32677292
25	NR3C1	chr22:32677068-32677350	ECC-1	luminal epithelium:	n/a	chr22:32677278-32677292
26	STAT3	chr22:32669504-32669690	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr22:32677072-32677512	MCF10A-Er-Src	breast:	n/a	chr22:32677357-32677369
28	STAT3	chr22:32677139-32677458	MCF10A-Er-Src	breast:	n/a	chr22:32677357-32677369
29	STAT3	chr22:32677102-32677512	MCF10A-Er-Src	breast:	n/a	chr22:32677357-32677369
30	TEAD4	chr22:32677086-32677449	ECC-1	luminal epithelium:	n/a	n/a
31	TEAD4	chr22:32677097-32677427	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32012966-32043914..22:32665993-32670527	K562	blood:
2	22:32670527-32676849..22:32920308-32927723	Hela-S3	cervix:
3	22:32665993-32670527..22:32740683-32750950	H1-hESC	embryonic stem cell:	embryo
4	22:32170492-32188129..22:32670527-32676849	Hela-S3	cervix:
5	22:32012966-32043914..22:32670527-32676849	K562	blood:
6	22:32665993-32670527..22:32750950-32761732	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RFPL3-5	chr22:32680670-32681118	ENSG00000273325.1
2	lnc-RFPL3-2	chr22:32672672-32673173	ENSG00000224050

Variant related genes	Relation type
ENSG00000273325	TF binding region
ENSG00000241878	chromatin interactions
ENSG00000185666	chromatin interactions
ENSG00000128276	chromatin interactions
ENSG00000100150	chromatin interactions
ENSG00000271093	chromatin interactions
ENSG00000205853	chromatin interactions

Extended variants
information (count: 466 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:466 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568137188	chr22:32669663-32669664	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs530628794	chr22:32669702-32669703	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs201231485	chr22:32669768-32669769	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs57838222	chr22:32669790-32669791	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs5753908	chr22:32669819-32669820	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs570949771	chr22:32669827-32669828	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs5753909	chr22:32669833-32669834	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs114311756	chr22:32669839-32669840	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs5753910	chr22:32669922-32669923	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs4821045	chr22:32669926-32669927	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs190229120	chr22:32669928-32669929	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs555344158	chr22:32669983-32669984	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs183174300	chr22:32670025-32670026	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs556328075	chr22:32670028-32670029	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs35592891	chr22:32670029-32670030	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs75320619	chr22:32670044-32670045	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs80021193	chr22:32670045-32670046	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs373292284	chr22:32670055-32670056	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs367886498	chr22:32670058-32670059	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs386820722	chr22:32670088-32670089	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs4821046	chr22:32670090-32670091	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs576938472	chr22:32670095-32670096	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs536174844	chr22:32670101-32670102	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs559349084	chr22:32670105-32670106	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs573193814	chr22:32670131-32670132	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs541802945	chr22:32670138-32670139	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs561678974	chr22:32670166-32670167	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs530564456	chr22:32670208-32670209	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs151066870	chr22:32670245-32670246	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs113080101	chr22:32670249-32670250	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs141027123	chr22:32670252-32670253	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs533348662	chr22:32670262-32670263	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs537975840	chr22:32670263-32670264	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs539136457	chr22:32670273-32670274	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs4821047	chr22:32670274-32670275	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs549306197	chr22:32670298-32670299	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs111791045	chr22:32670305-32670306	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs187764012	chr22:32670322-32670323	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs537875220	chr22:32670323-32670324	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs557953531	chr22:32670380-32670381	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs578058827	chr22:32670390-32670391	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs539227925	chr22:32670399-32670400	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs553138895	chr22:32670401-32670402	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs62241087	chr22:32670431-32670432	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs558247721	chr22:32670461-32670462	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs143366479	chr22:32670472-32670473	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs75182413	chr22:32670484-32670485	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs551444759	chr22:32670515-32670516	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs572628221	chr22:32670521-32670522	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs562011268	chr22:32670569-32670570	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32662200-32672600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr22:32668600-32671200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr22:32669000-32676400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr22:32671200-32673200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr22:32672200-32676800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:32673200-32674000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr22:32674000-32690000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr22:32676200-32677800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr22:32676400-32676600	Bivalent Enhancer	NHEK	skin
10	chr22:32676400-32676800	Enhancers	Esophagus	oesophagus
11	chr22:32676400-32677200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
12	chr22:32676400-32677400	Enhancers	Brain Cingulate Gyrus	brain
13	chr22:32676400-32677600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr22:32676400-32677800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr22:32676400-32677800	Enhancers	HMEC	breast
16	chr22:32676600-32676800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr22:32676600-32676800	Enhancers	NHEK	skin
18	chr22:32676600-32677000	Enhancers	Brain Angular Gyrus	brain
19	chr22:32676600-32677000	Enhancers	Brain Hippocampus Middle	brain
20	chr22:32676800-32677000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr22:32676800-32677000	Enhancers	Fetal Brain Female	brain
22	chr22:32676800-32677000	Flanking Active TSS	NHEK	skin
23	chr22:32676800-32677200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr22:32676800-32677200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr22:32676800-32677400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr22:32676800-32677400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr22:32676800-32677400	Enhancers	Brain Germinal Matrix	brain
28	chr22:32676800-32677400	Enhancers	NH-A	brain
29	chr22:32677000-32677200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
30	chr22:32677000-32677400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr22:32677000-32677400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr22:32677000-32677400	Enhancers	Brain Anterior Caudate	brain
33	chr22:32677000-32677400	Active TSS	Brain Hippocampus Middle	brain
34	chr22:32677000-32677400	Enhancers	Brain Substantia Nigra	brain
35	chr22:32677000-32677400	Enhancers	Fetal Brain Male	brain
36	chr22:32677000-32677600	Active TSS	Fetal Brain Female	brain
37	chr22:32677000-32677800	Enhancers	NHEK	skin
38	chr22:32677000-32680400	Weak transcription	Brain Angular Gyrus	brain
39	chr22:32677200-32677400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr22:32677200-32677400	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr22:32677200-32677800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr22:32677400-32677600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr22:32677400-32681000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr22:32680000-32680400	Enhancers	Fetal Brain Female	brain
45	chr22:32680400-32680600	ZNF genes & repeats	Brain Angular Gyrus	brain
46	chr22:32680400-32680600	Bivalent Enhancer	Left Ventricle	heart
47	chr22:32680600-32680800	Bivalent/Poised TSS	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links