Variant report

Variant	nsv1064026
Chromosome Location	chr22:33767185-33902059
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:645)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:1)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:645 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:33798455-33798650	HepG2	liver:	n/a	n/a
2	ARID3A	chr22:33848078-33848098	HepG2	liver:	n/a	n/a
3	ATF1	chr22:33860869-33861049	K562	blood:	n/a	n/a
4	ATF2	chr22:33868200-33869234	GM12878	blood:	n/a	n/a
5	ATF2	chr22:33868131-33869237	GM12878	blood:	n/a	n/a
6	BACH1	chr22:33834200-33834439	H1-hESC	embryonic stem cell:	n/a	n/a
7	BATF	chr22:33868385-33869207	GM12878	blood:	n/a	n/a
8	BATF	chr22:33872793-33873006	GM12878	blood:	n/a	chr22:33872893-33872903
9	BATF	chr22:33891586-33891884	GM12878	blood:	n/a	n/a
10	BATF	chr22:33891506-33891872	GM12878	blood:	n/a	n/a
11	BATF	chr22:33776851-33777189	GM12878	blood:	n/a	chr22:33777016-33777027 chr22:33776976-33776987
12	BATF	chr22:33776753-33777201	GM12878	blood:	n/a	chr22:33777016-33777027 chr22:33776976-33776987
13	BATF	chr22:33868152-33869285	GM12878	blood:	n/a	n/a
14	BATF	chr22:33866879-33867247	GM12878	blood:	n/a	chr22:33866987-33866995
15	BATF	chr22:33800746-33801000	GM12878	blood:	n/a	n/a
16	BCL11A	chr22:33868171-33869244	GM12878	blood:	n/a	n/a
17	BCL11A	chr22:33868365-33868946	GM12878	blood:	n/a	n/a
18	BCL3	chr22:33834070-33834608	A549	lung:	n/a	n/a
19	BCL3	chr22:33776771-33777229	GM12878	blood:	n/a	n/a
20	BCL3	chr22:33868257-33868999	GM12878	blood:	n/a	n/a
21	BCL3	chr22:33863822-33864245	GM12878	blood:	n/a	n/a
22	BCL3	chr22:33873464-33873860	GM12878	blood:	n/a	n/a
23	BCL3	chr22:33860625-33861035	GM12878	blood:	n/a	n/a
24	BCL3	chr22:33777653-33778122	A549	lung:	n/a	n/a
25	BCL3	chr22:33868354-33868648	GM12878	blood:	n/a	n/a
26	BCLAF1	chr22:33868189-33869190	GM12878	blood:	n/a	n/a
27	BCLAF1	chr22:33868067-33869036	GM12878	blood:	n/a	n/a
28	BHLHE40	chr22:33873649-33873835	GM12878	blood:	n/a	n/a
29	BHLHE40	chr22:33872694-33873024	HepG2	liver:	n/a	n/a
30	BHLHE40	chr22:33866486-33867052	GM12878	blood:	n/a	n/a
31	BHLHE40	chr22:33868284-33869174	GM12878	blood:	n/a	n/a
32	BHLHE40	chr22:33870438-33870885	GM12878	blood:	n/a	n/a
33	BHLHE40	chr22:33866541-33866687	HepG2	liver:	n/a	n/a
34	CEBPB	chr22:33776660-33777360	IMR90	lung:	n/a	n/a
35	CEBPB	chr22:33872780-33872867	HepG2	liver:	n/a	n/a
36	CEBPB	chr22:33793273-33793666	IMR90	lung:	n/a	n/a
37	CEBPB	chr22:33882648-33882750	HepG2	liver:	n/a	chr22:33882708-33882719 chr22:33882708-33882717
38	CEBPB	chr22:33889815-33890109	HepG2	liver:	n/a	n/a
39	CEBPB	chr22:33844014-33844214	HepG2	liver:	n/a	chr22:33844164-33844175
40	CEBPB	chr22:33868123-33869272	GM12878	blood:	n/a	n/a
41	CEBPB	chr22:33782375-33782524	HepG2	liver:	n/a	n/a
42	CEBPB	chr22:33808640-33808659	H1-hESC	embryonic stem cell:	n/a	n/a
43	CEBPB	chr22:33886118-33886192	IMR90	lung:	n/a	n/a
44	CEBPB	chr22:33895725-33895741	A549	lung:	n/a	n/a
45	CEBPB	chr22:33776778-33777058	A549	lung:	n/a	n/a
46	CEBPB	chr22:33776621-33777140	A549	lung:	n/a	n/a
47	CEBPB	chr22:33776704-33777058	A549	lung:	n/a	n/a
48	CEBPB	chr22:33801354-33801607	HepG2	liver:	n/a	chr22:33801459-33801470 chr22:33801459-33801468
49	CEBPB	chr22:33793377-33793448	HepG2	liver:	n/a	n/a
50	CHD1	chr22:33866363-33866938	GM12878	blood:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:31001718..31002627-chr22:33884453..33885240,2	MCF-7	breast:
2	chr22:33826221..33828441-chr22:33835268..33837530,2	MCF-7	breast:
3	chr22:33824218..33826248-chr22:33829091..33830627,2	MCF-7	breast:
4	chr22:33789978..33792098-chr22:33794804..33797687,2	MCF-7	breast:
5	chr22:33834090..33836175-chr22:34315655..34317389,2	MCF-7	breast:
6	chr22:33770626..33773440-chr22:33777171..33779247,2	K562	blood:
7	chr22:33789978..33792098-chr22:33794804..33797687,2	MCF-7	breast:
8	chr22:33824218..33826248-chr22:33829091..33830627,2	MCF-7	breast:
9	chr22:33770626..33773440-chr22:33777171..33779247,2	K562	blood:
10	chr22:33754382..33757295-chr22:33782383..33785035,2	K562	blood:
11	chr22:33826221..33828441-chr22:33835268..33837530,2	MCF-7	breast:
12	chr22:33803279..33805920-chr22:33806998..33808541,2	MCF-7	breast:
13	chr22:33803279..33805920-chr22:33806998..33808541,2	MCF-7	breast:
14	chr22:33791457..33793714-chr22:33799234..33801837,2	MCF-7	breast:
15	chr22:33780659..33782613-chr22:33787779..33790612,2	MCF-7	breast:
16	chr22:33791457..33793714-chr22:33799234..33801837,2	MCF-7	breast:
17	chr22:33780659..33782613-chr22:33787779..33790612,2	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
LARGE	TF binding region
MIR4764	TF binding region
ENSG00000133424	chromatin interactions

Extended variants
information (count: 5816 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:5816 , 50 per page) page: 1 2 3 4 5 6 7 ... 117

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560486291	chr22:33767229-33767230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4821145	chr22:33767245-33767246	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs113985664	chr22:33767254-33767255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559520541	chr22:33767290-33767291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs180882797	chr22:33767312-33767313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187320726	chr22:33767318-33767319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550724921	chr22:33767321-33767322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570582882	chr22:33767379-33767380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376999217	chr22:33767426-33767427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370050343	chr22:33767492-33767493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528327854	chr22:33767534-33767535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539504191	chr22:33767601-33767602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141388755	chr22:33767605-33767606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566130785	chr22:33767638-33767639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150434632	chr22:33767639-33767640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138191804	chr22:33767654-33767655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149585142	chr22:33767666-33767667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538176855	chr22:33767692-33767693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544129180	chr22:33767693-33767694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374064733	chr22:33767696-33767697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111820453	chr22:33767698-33767699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147307331	chr22:33767699-33767700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190702112	chr22:33767708-33767709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543010802	chr22:33767736-33767737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562893907	chr22:33767756-33767757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564856619	chr22:33767758-33767759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530812484	chr22:33767767-33767768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544215406	chr22:33767774-33767775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112676937	chr22:33767785-33767786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563977256	chr22:33767786-33767787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369233680	chr22:33767787-33767788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371786389	chr22:33767797-33767798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532609312	chr22:33767851-33767852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546394381	chr22:33767872-33767873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566192023	chr22:33767885-33767886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528968827	chr22:33767886-33767887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548540096	chr22:33767902-33767903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568537185	chr22:33767956-33767957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552721979	chr22:33767957-33767958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181986397	chr22:33768022-33768023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185883289	chr22:33768030-33768031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190343830	chr22:33768045-33768046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182684804	chr22:33768057-33768058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370835739	chr22:33768073-33768074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73166263	chr22:33768118-33768119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201614632	chr22:33768183-33768184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540942231	chr22:33768221-33768222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185465409	chr22:33768265-33768266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574154630	chr22:33768308-33768309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559619070	chr22:33768321-33768322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:1298 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33731400-33773400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr22:33731400-33779800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr22:33734000-33777800	Weak transcription	Pancreas	Pancrea
4	chr22:33738000-33776800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr22:33747400-33768600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr22:33747400-33775600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr22:33755400-33768400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr22:33755600-33773600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr22:33757800-33777000	Weak transcription	Fetal Stomach	stomach
10	chr22:33757800-33777200	Weak transcription	Left Ventricle	heart
11	chr22:33758400-33768400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr22:33758600-33773200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr22:33760000-33768400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr22:33765800-33777800	Weak transcription	Gastric	stomach
15	chr22:33766800-33786000	Weak transcription	Fetal Lung	lung
16	chr22:33768200-33768800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr22:33768400-33768800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr22:33768400-33770200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
19	chr22:33768400-33770200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr22:33768600-33769200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr22:33768800-33774000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr22:33769200-33769800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr22:33769200-33777800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr22:33769600-33770000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr22:33769800-33776400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr22:33770200-33774800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr22:33771400-33774200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr22:33771800-33776400	Weak transcription	HSMM	muscle
29	chr22:33772800-33773400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr22:33773000-33778600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr22:33773200-33773400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr22:33773200-33773600	Enhancers	Liver	Liver
33	chr22:33773200-33777200	Weak transcription	Fetal Intestine Large	intestine
34	chr22:33773400-33774600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr22:33773400-33776400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr22:33773600-33774800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
37	chr22:33773600-33775600	Weak transcription	Liver	Liver
38	chr22:33773600-33776200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
39	chr22:33773600-33781200	Weak transcription	Primary B cells from cord blood	blood
40	chr22:33773800-33776200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
41	chr22:33774000-33774800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr22:33774000-33777000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr22:33774000-33777200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr22:33774200-33775000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
45	chr22:33774200-33786200	Weak transcription	Fetal Heart	heart
46	chr22:33774400-33775000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
47	chr22:33774400-33775000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr22:33774400-33775200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
49	chr22:33774400-33777800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr22:33774600-33776000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived

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