Variant report

Variant	nsv1063312
Chromosome Location	chr22:33963672-33983973
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	chr22:33969650-33969794	HepG2	liver:	n/a	n/a
2	ARID3A	chr22:33973474-33974817	HepG2	liver:	n/a	n/a
3	ARID3A	chr22:33975491-33975866	HepG2	liver:	n/a	n/a
4	ATF2	chr22:33964016-33964559	GM12878	blood:	n/a	n/a
5	ATF2	chr22:33963983-33964561	GM12878	blood:	n/a	n/a
6	BATF	chr22:33964003-33964555	GM12878	blood:	n/a	n/a
7	BATF	chr22:33964017-33964493	GM12878	blood:	n/a	n/a
8	BCL11A	chr22:33963990-33964484	GM12878	blood:	n/a	n/a
9	BCL11A	chr22:33964057-33964453	GM12878	blood:	n/a	n/a
10	BCL3	chr22:33963983-33964498	GM12878	blood:	n/a	n/a
11	BCLAF1	chr22:33963962-33964563	GM12878	blood:	n/a	n/a
12	BCLAF1	chr22:33963968-33964564	GM12878	blood:	n/a	n/a
13	BHLHE40	chr22:33965178-33965442	GM12878	blood:	n/a	n/a
14	BHLHE40	chr22:33964098-33964496	GM12878	blood:	n/a	n/a
15	CEBPB	chr22:33973815-33974209	HepG2	liver:	n/a	n/a
16	CEBPB	chr22:33973841-33974151	HepG2	liver:	n/a	n/a
17	CEBPB	chr22:33964251-33964530	GM12878	blood:	n/a	n/a
18	CHD2	chr22:33975518-33975786	HepG2	liver:	n/a	n/a
19	CHD2	chr22:33973932-33974332	HepG2	liver:	n/a	chr22:33974092-33974102
20	CHD2	chr22:33981265-33981272	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD2	chr22:33964033-33964494	GM12878	blood:	n/a	n/a
22	CREB1	chr22:33973826-33974369	HepG2	liver:	n/a	n/a
23	CTCF	chr22:33975540-33975690	HAc	cerebellar:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
24	CTCF	chr22:33975600-33975750	GM12868	blood:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
25	CTCF	chr22:33975580-33975730	GM12873	blood:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
26	CTCF	chr22:33975540-33975690	RPTEC	kidney:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
27	CTCF	chr22:33975544-33975759	HUVEC	blood vessel:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
28	CTCF	chr22:33975557-33975768	GM20000	blood:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
29	CTCF	chr22:33963860-33964010	RPTEC	kidney:	n/a	n/a
30	CTCF	chr22:33975600-33975750	SK-N-SH_RA	brain:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
31	CTCF	chr22:33975560-33975710	HFF-Myc	foreskin:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
32	CTCF	chr22:33975600-33975750	GM12867	blood:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
33	CTCF	chr22:33975560-33975710	GM12801	blood:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
34	CTCF	chr22:33975519-33975778	LNCaP	prostate:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
35	CTCF	chr22:33975527-33975776	LNCaP	prostate:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
36	CTCF	chr22:33975531-33975764	GM13976	blood:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
37	CTCF	chr22:33975508-33975785	A549	lung:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
38	CTCF	chr22:33975540-33975690	K562	blood:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
39	CTCF	chr22:33975600-33975750	GM12874	blood:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
40	CTCF	chr22:33975510-33975771	MCF-7	breast:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
41	CTCF	chr22:33975600-33975750	HUVEC	blood vessel:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
42	CTCF	chr22:33964079-33964214	GM12892	blood:	n/a	n/a
43	CTCF	chr22:33975540-33975690	NHDF-neo	bronchial:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
44	CTCF	chr22:33975540-33975690	GM06990	blood:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
45	CTCF	chr22:33975580-33975730	GM12872	blood:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
46	CTCF	chr22:33975580-33975730	HCFaa	heart:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
47	CTCF	chr22:33975318-33976002	SK-N-SH	brain:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
48	CTCF	chr22:33975524-33975792	GM10266	blood:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
49	CTCF	chr22:33975444-33975813	A549	lung:	n/a	chr22:33975630-33975651 chr22:33975636-33975652
50	CTCF	chr22:33975501-33975796	A549	lung:	n/a	chr22:33975630-33975651 chr22:33975636-33975652

No.	Distal block	Cell Line	Cell type
1	chr22:33914896..33915863-chr22:33975082..33976024,7	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	chr22:33964224..33966733-chr22:33974082..33975978,2	MCF-7	breast:
5	chr22:33697824..33698953-chr22:33975158..33976104,6	MCF-7	breast:
6	chr22:33697775..33698595-chr22:33975181..33976048,2	MCF-7	breast:

Variant related genes	Relation type
LARGE	TF binding region

Extended variants
information (count: 794 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532345172	chr22:33963680-33963681	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs8143139	chr22:33963707-33963708	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs565889573	chr22:33963732-33963733	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs534775611	chr22:33963738-33963739	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs5999014	chr22:33963757-33963758	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs4417800	chr22:33963790-33963791	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs532868000	chr22:33963835-33963836	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs538832291	chr22:33963880-33963881	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs8136420	chr22:33963938-33963939	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs556720736	chr22:33963953-33963954	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs191606901	chr22:33964011-33964012	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs546185362	chr22:33964016-33964017	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs553212918	chr22:33964017-33964018	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs573119286	chr22:33964077-33964078	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs184584451	chr22:33964136-33964137	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs561926020	chr22:33964166-33964167	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs560155921	chr22:33964194-33964195	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs189147236	chr22:33964207-33964208	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs370510670	chr22:33964268-33964269	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs149843855	chr22:33964297-33964298	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs533317298	chr22:33964310-33964311	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs552514779	chr22:33964314-33964315	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs73168542	chr22:33964328-33964329	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs528370495	chr22:33964368-33964369	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs554629068	chr22:33964374-33964375	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs548436311	chr22:33964382-33964383	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs568234181	chr22:33964389-33964390	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs536790307	chr22:33964406-33964407	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs570363838	chr22:33964426-33964427	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs539015496	chr22:33964446-33964447	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs574781803	chr22:33964478-33964479	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs182548772	chr22:33964479-33964480	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs6518832	chr22:33964490-33964491	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs560550097	chr22:33964491-33964492	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs140251746	chr22:33964500-33964501	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs187198778	chr22:33964510-33964511	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs555582285	chr22:33964527-33964528	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs189366777	chr22:33964551-33964552	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs5754612	chr22:33964576-33964577	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs531532853	chr22:33964598-33964599	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs8139892	chr22:33964660-33964661	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs112705602	chr22:33964688-33964689	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs540659220	chr22:33964689-33964690	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs181655610	chr22:33964692-33964693	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs528432957	chr22:33964747-33964748	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs112806922	chr22:33964752-33964753	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs372309631	chr22:33964753-33964754	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs56400885	chr22:33964771-33964772	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs367932746	chr22:33964772-33964773	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs548498219	chr22:33964808-33964809	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	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:333 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33917400-33966800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr22:33937000-33965000	Weak transcription	Brain Anterior Caudate	brain
3	chr22:33937200-33965000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr22:33939800-33965200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr22:33940800-33970600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr22:33945800-33964800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr22:33946000-33974600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr22:33948400-33964800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr22:33949400-33965200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr22:33949600-33975400	Weak transcription	Ovary	ovary
11	chr22:33952400-33969400	Weak transcription	A549	lung
12	chr22:33953000-33964600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr22:33954800-33964200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr22:33955000-33965000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr22:33956000-33965000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr22:33956800-33964800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr22:33957600-33964200	Weak transcription	Lung	lung
18	chr22:33958200-33963800	Enhancers	Primary B cells from peripheral blood	blood
19	chr22:33958200-33964000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr22:33958200-33965000	Weak transcription	Stomach Mucosa	stomach
21	chr22:33958400-33967000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr22:33958800-33964800	Weak transcription	Fetal Stomach	stomach
23	chr22:33959000-33964800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr22:33959000-33965200	Weak transcription	Brain Hippocampus Middle	brain
25	chr22:33959200-33964000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr22:33959200-33964000	Weak transcription	Spleen	Spleen
27	chr22:33959200-33964200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr22:33959200-33965000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr22:33959200-33966800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr22:33959400-33964000	Weak transcription	Pancreas	Pancrea
31	chr22:33959400-33964800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr22:33959400-33965000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr22:33959400-33974800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr22:33959800-33964000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr22:33959800-33964200	Weak transcription	Adipose Nuclei	Adipose
36	chr22:33959800-33964800	Weak transcription	Brain Germinal Matrix	brain
37	chr22:33960000-33964000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr22:33960000-33964800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr22:33960000-33965000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr22:33960000-33966000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr22:33960000-33993000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr22:33960200-33964000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr22:33960400-33969200	Weak transcription	Fetal Intestine Large	intestine
44	chr22:33961000-33964000	Weak transcription	HepG2	liver
45	chr22:33961000-33969200	Weak transcription	Fetal Intestine Small	intestine
46	chr22:33961200-33965400	Weak transcription	Liver	Liver
47	chr22:33962000-33964000	Weak transcription	Left Ventricle	heart
48	chr22:33962600-33967400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr22:33962800-33964400	Enhancers	Primary B cells from cord blood	blood
50	chr22:33963000-33963800	Weak transcription	Fetal Heart	heart

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