Variant report

Variant	nsv1060862
Chromosome Location	chr22:33810445-33891296
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:470)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:470 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:33848078-33848098	HepG2	liver:	n/a	n/a
2	ATF1	chr22:33860869-33861049	K562	blood:	n/a	n/a
3	ATF2	chr22:33868131-33869237	GM12878	blood:	n/a	n/a
4	ATF2	chr22:33868200-33869234	GM12878	blood:	n/a	n/a
5	BACH1	chr22:33834200-33834439	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr22:33868152-33869285	GM12878	blood:	n/a	n/a
7	BATF	chr22:33868385-33869207	GM12878	blood:	n/a	n/a
8	BATF	chr22:33866879-33867247	GM12878	blood:	n/a	chr22:33866987-33866995
9	BATF	chr22:33872793-33873006	GM12878	blood:	n/a	chr22:33872893-33872903
10	BCL11A	chr22:33868365-33868946	GM12878	blood:	n/a	n/a
11	BCL11A	chr22:33868171-33869244	GM12878	blood:	n/a	n/a
12	BCL3	chr22:33863822-33864245	GM12878	blood:	n/a	n/a
13	BCL3	chr22:33868257-33868999	GM12878	blood:	n/a	n/a
14	BCL3	chr22:33873464-33873860	GM12878	blood:	n/a	n/a
15	BCL3	chr22:33834070-33834608	A549	lung:	n/a	n/a
16	BCL3	chr22:33860625-33861035	GM12878	blood:	n/a	n/a
17	BCL3	chr22:33868354-33868648	GM12878	blood:	n/a	n/a
18	BCLAF1	chr22:33868067-33869036	GM12878	blood:	n/a	n/a
19	BCLAF1	chr22:33868189-33869190	GM12878	blood:	n/a	n/a
20	BHLHE40	chr22:33873649-33873835	GM12878	blood:	n/a	n/a
21	BHLHE40	chr22:33868284-33869174	GM12878	blood:	n/a	n/a
22	BHLHE40	chr22:33866541-33866687	HepG2	liver:	n/a	n/a
23	BHLHE40	chr22:33872694-33873024	HepG2	liver:	n/a	n/a
24	BHLHE40	chr22:33870438-33870885	GM12878	blood:	n/a	n/a
25	BHLHE40	chr22:33866486-33867052	GM12878	blood:	n/a	n/a
26	CEBPB	chr22:33872780-33872867	HepG2	liver:	n/a	n/a
27	CEBPB	chr22:33882648-33882750	HepG2	liver:	n/a	chr22:33882708-33882719 chr22:33882708-33882717
28	CEBPB	chr22:33886118-33886192	IMR90	lung:	n/a	n/a
29	CEBPB	chr22:33844014-33844214	HepG2	liver:	n/a	chr22:33844164-33844175
30	CEBPB	chr22:33889815-33890109	HepG2	liver:	n/a	n/a
31	CEBPB	chr22:33868123-33869272	GM12878	blood:	n/a	n/a
32	CHD1	chr22:33866363-33866938	GM12878	blood:	n/a	n/a
33	CHD1	chr22:33868112-33869105	GM12878	blood:	n/a	n/a
34	CHD2	chr22:33888121-33888551	GM12878	blood:	n/a	n/a
35	CHD2	chr22:33843608-33843739	GM12878	blood:	n/a	n/a
36	CHD2	chr22:33866460-33866928	GM12878	blood:	n/a	n/a
37	CHD2	chr22:33868187-33869183	GM12878	blood:	n/a	n/a
38	CREB1	chr22:33868164-33869253	GM12878	blood:	n/a	n/a
39	CREB1	chr22:33868344-33869214	GM12878	blood:	n/a	n/a
40	CTCF	chr22:33863780-33863930	NHDF-neo	bronchial:	n/a	n/a
41	CTCF	chr22:33863780-33863930	HBMEC	blood vessel:	n/a	n/a
42	CTCF	chr22:33863800-33863950	Caco-2	colon:	n/a	n/a
43	CTCF	chr22:33834500-33834650	HMEC	breast:	n/a	chr22:33834610-33834623
44	CTCF	chr22:33860825-33860924	GM19239	blood:	n/a	n/a
45	CTCF	chr22:33863757-33863929	HepG2	liver:	n/a	n/a
46	CTCF	chr22:33863845-33863895	GM13976	blood:	n/a	n/a
47	CTCF	chr22:33863760-33863910	HCPEpiC	choroid plexus:	n/a	n/a
48	CTCF	chr22:33863640-33863790	WI-38	lung:	n/a	n/a
49	CTCF	chr22:33863780-33863930	AoAF	blood vessel:	n/a	n/a
50	CTCF	chr22:33863760-33863910	HPF	lung:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:33834090..33836175-chr22:34315655..34317389,2	MCF-7	breast:
2	chr22:33824218..33826248-chr22:33829091..33830627,2	MCF-7	breast:
3	chr17:31001718..31002627-chr22:33884453..33885240,2	MCF-7	breast:
4	chr22:33824218..33826248-chr22:33829091..33830627,2	MCF-7	breast:
5	chr22:33826221..33828441-chr22:33835268..33837530,2	MCF-7	breast:
6	chr22:33826221..33828441-chr22:33835268..33837530,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

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

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

No data

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

Extended variants
information (count: 3388 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:3388 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115122226	chr22:33810479-33810480	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs532615287	chr22:33810506-33810507	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs115218046	chr22:33810515-33810516	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs184662593	chr22:33810582-33810583	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs141467583	chr22:33810588-33810589	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs200628051	chr22:33810591-33810592	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs190413252	chr22:33810634-33810635	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs541198634	chr22:33810635-33810636	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs548691136	chr22:33810687-33810688	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs527441494	chr22:33810706-33810707	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs374538444	chr22:33810707-33810708	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs577968094	chr22:33810718-33810719	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs185033000	chr22:33810785-33810786	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs374340373	chr22:33810804-33810805	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs549825847	chr22:33810838-33810839	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs543732508	chr22:33810879-33810880	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs62225288	chr22:33810887-33810888	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs538464656	chr22:33810918-33810919	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs552301417	chr22:33810969-33810970	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs7286138	chr22:33810970-33810971	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs73405393	chr22:33810992-33810993	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs376727542	chr22:33811018-33811019	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs147315608	chr22:33811021-33811022	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs554222990	chr22:33811030-33811031	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs574116718	chr22:33811032-33811033	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs145140256	chr22:33811062-33811063	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs557382666	chr22:33811195-33811196	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs35293807	chr22:33811203-33811204	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs372059602	chr22:33811278-33811279	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs577422023	chr22:33811283-33811284	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs376763273	chr22:33811285-33811286	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs546179079	chr22:33811295-33811296	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs368314056	chr22:33811354-33811355	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs560030573	chr22:33811411-33811412	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs372385947	chr22:33811419-33811420	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs573458356	chr22:33811423-33811424	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs542368592	chr22:33811461-33811462	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs16992290	chr22:33811494-33811495	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs530826211	chr22:33811524-33811525	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs559367725	chr22:33811547-33811548	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs114460068	chr22:33811590-33811591	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs370082216	chr22:33811645-33811646	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs55645916	chr22:33811659-33811660	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs138529203	chr22:33811661-33811662	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs2267203	chr22:33811677-33811678	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs565568214	chr22:33811686-33811687	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570700863	chr22:33811693-33811694	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534482408	chr22:33811706-33811707	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539689495	chr22:33811741-33811742	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141500918	chr22:33811743-33811744	Weak transcription Strong transcription ZNF genes & repeats 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:894 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33778600-33852000	Weak transcription	Pancreas	Pancrea
2	chr22:33780000-33818000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr22:33780600-33834000	Weak transcription	Gastric	stomach
4	chr22:33780800-33823000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr22:33781200-33814800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr22:33792800-33811000	Weak transcription	Aorta	Aorta
7	chr22:33797000-33814800	Weak transcription	Primary B cells from peripheral blood	blood
8	chr22:33797000-33817800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr22:33797400-33810600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr22:33797400-33818200	Weak transcription	Fetal Stomach	stomach
11	chr22:33797800-33817800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr22:33798000-33822800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr22:33798200-33823400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr22:33798600-33826000	Weak transcription	Ovary	ovary
15	chr22:33799000-33825600	Weak transcription	Liver	Liver
16	chr22:33800000-33826200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr22:33801400-33814600	Weak transcription	Right Ventricle	heart
18	chr22:33801400-33815000	Weak transcription	Right Atrium	heart
19	chr22:33802000-33822600	Weak transcription	Fetal Heart	heart
20	chr22:33802400-33811800	Weak transcription	Left Ventricle	heart
21	chr22:33802400-33826600	Weak transcription	HepG2	liver
22	chr22:33805400-33823000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr22:33810400-33810600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr22:33810600-33811200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr22:33810600-33811600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
26	chr22:33810600-33828400	Weak transcription	Fetal Intestine Small	intestine
27	chr22:33811000-33811200	ZNF genes & repeats	Aorta	Aorta
28	chr22:33811200-33811800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr22:33811600-33811800	ZNF genes & repeats	Aorta	Aorta
30	chr22:33811600-33812000	Enhancers	Fetal Lung	lung
31	chr22:33811600-33812400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr22:33811600-33812400	Enhancers	Fetal Muscle Leg	muscle
33	chr22:33811800-33812200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr22:33811800-33812400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr22:33811800-33812400	Enhancers	Left Ventricle	heart
36	chr22:33811800-33812400	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr22:33812200-33815200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr22:33812400-33814200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr22:33812400-33814600	Weak transcription	Left Ventricle	heart
40	chr22:33812400-33814800	Weak transcription	Stomach Mucosa	stomach
41	chr22:33812400-33817800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr22:33812400-33822600	Weak transcription	Fetal Muscle Leg	muscle
43	chr22:33812400-33834000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr22:33813200-33813800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr22:33813600-33824000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr22:33814200-33815600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr22:33814400-33815600	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr22:33814600-33814800	Enhancers	Psoas Muscle	Psoas
49	chr22:33814600-33815600	Enhancers	Left Ventricle	heart
50	chr22:33814600-33815600	Enhancers	Right Ventricle	heart

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