Variant report

Variant	nsv588934
Chromosome Location	chr22:33965639-34035034
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	chr22:33975491-33975866	HepG2	liver:	n/a	n/a
2	ARID3A	chr22:33969650-33969794	HepG2	liver:	n/a	n/a
3	ARID3A	chr22:33988518-33988724	HepG2	liver:	n/a	n/a
4	ARID3A	chr22:33973474-33974817	HepG2	liver:	n/a	n/a
5	BATF	chr22:34032205-34032459	GM12878	blood:	n/a	chr22:34032362-34032373 chr22:34032367-34032377 chr22:34032363-34032373
6	CEBPB	chr22:33988502-33988764	HepG2	liver:	n/a	n/a
7	CEBPB	chr22:34005012-34005212	A549	lung:	n/a	chr22:34005098-34005109
8	CEBPB	chr22:34004978-34005268	HepG2	liver:	n/a	chr22:34005098-34005109
9	CEBPB	chr22:33973815-33974209	HepG2	liver:	n/a	n/a
10	CEBPB	chr22:34001203-34001526	HepG2	liver:	n/a	n/a
11	CEBPB	chr22:33993246-33993253	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr22:33973841-33974151	HepG2	liver:	n/a	n/a
13	CEBPB	chr22:34027817-34028113	HepG2	liver:	n/a	n/a
14	CHD2	chr22:33975518-33975786	HepG2	liver:	n/a	n/a
15	CHD2	chr22:33973932-33974332	HepG2	liver:	n/a	chr22:33974092-33974102
16	CHD2	chr22:33981265-33981272	H1-hESC	embryonic stem cell:	n/a	n/a
17	CREB1	chr22:33973826-33974369	HepG2	liver:	n/a	n/a
18	CTCF	chr22:33975600-33975750	AG04450	lung:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
19	CTCF	chr22:33994712-33994782	GM13976	blood:	n/a	n/a
20	CTCF	chr22:33975580-33975730	MCF-7	breast:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
21	CTCF	chr22:33975481-33975802	GM19238	blood:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
22	CTCF	chr22:33975580-33975730	AG10803	skin:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
23	CTCF	chr22:33975540-33975690	NHDF-neo	bronchial:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
24	CTCF	chr22:33975458-33975832	H1-hESC	embryonic stem cell:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
25	CTCF	chr22:33975580-33975730	NHEK	skin:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
26	CTCF	chr22:33975502-33975749	MCF-7	breast:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
27	CTCF	chr22:33975444-33975750	K562	blood:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
28	CTCF	chr22:33975428-33975843	MCF-7	breast:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
29	CTCF	chr22:33975491-33975806	Medullo	brain:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
30	CTCF	chr22:33975560-33975710	HRE	kidney:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
31	CTCF	chr22:34020860-34021010	GM12864	blood:	n/a	n/a
32	CTCF	chr22:33975600-33975750	HPF	lung:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
33	CTCF	chr22:33975580-33975730	HCFaa	heart:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
34	CTCF	chr22:33975580-33975730	Caco-2	colon:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
35	CTCF	chr22:33975600-33975750	HFF	foreskin:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
36	CTCF	chr22:33975560-33975710	GM12867	blood:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
37	CTCF	chr22:33975600-33975750	NHEK	skin:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
38	CTCF	chr22:33975380-33975530	GM12864	blood:	n/a	n/a
39	CTCF	chr22:33975473-33975789	GM12892	blood:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
40	CTCF	chr22:33975506-33975803	Gliobla	brain:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
41	CTCF	chr22:33975498-33975797	Fibrobl	skin:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
42	CTCF	chr22:33975491-33975792	GM19239	blood:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
43	CTCF	chr22:33975600-33975750	HEEpiC	esophagus:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
44	CTCF	chr22:33975720-33975870	HAc	cerebellar:	n/a	n/a
45	CTCF	chr22:34013709-34013727	Lung_OC	lung:	n/a	n/a
46	CTCF	chr22:33975499-33975760	SK-N-SH_RA	brain:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
47	CTCF	chr22:33975485-33975761	GM12891	blood:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
48	CTCF	chr22:33975553-33975780	GM10248	blood:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
49	CTCF	chr22:34010560-34010710	HEEpiC	esophagus:	n/a	n/a
50	CTCF	chr22:33975560-33975710	GM12875	blood:	n/a	chr22:33975630-33975651 chr22:33975636-33975652

No.	Distal block	Cell Line	Cell type
1	chr22:33994236..33996382-chr22:34011754..34014539,2	MCF-7	breast:
2	chr22:33964224..33966733-chr22:33974082..33975978,2	MCF-7	breast:
3	chr22:33915114..33915817-chr22:33975164..33976137,2	MCF-7	breast:
4	chr22:33697775..33698595-chr22:33975181..33976048,2	MCF-7	breast:
5	chr22:33914896..33915863-chr22:33975082..33976024,7	MCF-7	breast:
6	chr22:33994236..33996382-chr22:34011754..34014539,2	MCF-7	breast:
7	chr22:34017891..34021270-chr22:34021737..34025602,3	MCF-7	breast:
8	chr22:33964224..33966733-chr22:33974082..33975978,2	MCF-7	breast:
9	chr22:34017891..34021270-chr22:34021737..34025602,3	MCF-7	breast:
10	chr22:33697824..33698953-chr22:33975158..33976104,6	MCF-7	breast:

Variant related genes	Relation type
LARGE	TF binding region

Extended variants
information (count: 3004 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:3004 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3819663	chr22:33965639-33965640	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs532904170	chr22:33965653-33965654	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs78939047	chr22:33965696-33965697	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs566136606	chr22:33965699-33965700	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs13054683	chr22:33965711-33965712	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs535047631	chr22:33965730-33965731	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs146469506	chr22:33965802-33965803	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs569561987	chr22:33965803-33965804	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs538141564	chr22:33965816-33965817	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs149047608	chr22:33965869-33965870	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs567704686	chr22:33965877-33965878	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs143137611	chr22:33965891-33965892	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs534289571	chr22:33965897-33965898	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs5999016	chr22:33965912-33965913	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs3819664	chr22:33965913-33965914	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs569446923	chr22:33965945-33965946	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs148238031	chr22:33965983-33965984	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs182670038	chr22:33966023-33966024	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs73413173	chr22:33966042-33966043	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs74403602	chr22:33966053-33966054	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs186248624	chr22:33966054-33966055	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs150384081	chr22:33966078-33966079	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs138192411	chr22:33966112-33966113	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs575243891	chr22:33966146-33966147	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs143044083	chr22:33966192-33966193	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs75432602	chr22:33966256-33966257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559786677	chr22:33966313-33966314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147456552	chr22:33966335-33966336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78190950	chr22:33966376-33966377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138402175	chr22:33966386-33966387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532076469	chr22:33966410-33966411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551738514	chr22:33966443-33966444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs28567378	chr22:33966479-33966480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534161315	chr22:33966526-33966527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534358177	chr22:33966542-33966543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369464340	chr22:33966577-33966578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2267230	chr22:33966591-33966592	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs567792247	chr22:33966610-33966611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs62227073	chr22:33966611-33966612	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs563675931	chr22:33966619-33966620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546329381	chr22:33966620-33966621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77203163	chr22:33966632-33966633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142217813	chr22:33966633-33966634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs78027073	chr22:33966634-33966635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10590542	chr22:33966654-33966655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148242894	chr22:33966657-33966658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562496540	chr22:33966682-33966683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2267231	chr22:33966725-33966726	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs76891505	chr22:33966752-33966753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577435801	chr22:33966782-33966783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Acute lymphoblastic leukemia	21339820	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:721 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33917400-33966800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr22:33940800-33970600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr22:33946000-33974600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr22:33949600-33975400	Weak transcription	Ovary	ovary
5	chr22:33952400-33969400	Weak transcription	A549	lung
6	chr22:33958400-33967000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr22:33959200-33966800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr22:33959400-33974800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr22:33960000-33966000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr22:33960000-33993000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr22:33960400-33969200	Weak transcription	Fetal Intestine Large	intestine
12	chr22:33961000-33969200	Weak transcription	Fetal Intestine Small	intestine
13	chr22:33962600-33967400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr22:33963400-33966200	Enhancers	Fetal Kidney	kidney
15	chr22:33963600-33966400	Enhancers	Right Ventricle	heart
16	chr22:33963800-33966200	Enhancers	Fetal Heart	heart
17	chr22:33963800-33966600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr22:33964000-33965800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr22:33964000-33966200	Enhancers	Primary hematopoietic stem cells	blood
20	chr22:33964000-33966200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr22:33964000-33966200	Enhancers	Left Ventricle	heart
22	chr22:33964000-33966200	Enhancers	HepG2	liver
23	chr22:33964000-33966400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr22:33964000-33966400	Enhancers	Spleen	Spleen
25	chr22:33964200-33965800	Enhancers	Adipose Nuclei	Adipose
26	chr22:33964200-33965800	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr22:33964200-33966000	Enhancers	Right Atrium	heart
28	chr22:33964600-33966200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr22:33964600-33966400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr22:33964800-33965800	Enhancers	Brain Germinal Matrix	brain
31	chr22:33964800-33965800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr22:33964800-33966000	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr22:33964800-33966200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr22:33964800-33966200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr22:33964800-33966200	Enhancers	Fetal Stomach	stomach
36	chr22:33964800-33966400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr22:33964800-33967000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr22:33965000-33965800	Enhancers	Stomach Mucosa	stomach
39	chr22:33965000-33966000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr22:33965000-33966200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr22:33965000-33966200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr22:33965000-33966400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr22:33965000-33966400	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr22:33965000-33966600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr22:33965000-33966800	Enhancers	H1 Cell Line	embryonic stem cell
46	chr22:33965000-33966800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr22:33965200-33965800	Enhancers	Brain Hippocampus Middle	brain
48	chr22:33965200-33966000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr22:33965200-33966000	Enhancers	Brain Angular Gyrus	brain
50	chr22:33965200-33966000	Enhancers	Duodenum Smooth Muscle	Duodenum

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