Variant report

Variant	nsv1060283
Chromosome Location	chr22:33809137-34043739
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1728)
CpG islands
(count:0)
Chromatin interactive
region (count:29)
LncRNA
region (count:1)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:1728 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

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	chr22:33909938-33910191	HepG2	liver:	n/a	n/a
3	ARID3A	chr22:33915278-33915609	HepG2	liver:	n/a	n/a
4	ARID3A	chr22:33988518-33988724	HepG2	liver:	n/a	n/a
5	ARID3A	chr22:33969650-33969794	HepG2	liver:	n/a	n/a
6	ARID3A	chr22:33904039-33904171	HepG2	liver:	n/a	n/a
7	ARID3A	chr22:33848078-33848098	HepG2	liver:	n/a	n/a
8	ARID3A	chr22:33973474-33974817	HepG2	liver:	n/a	n/a
9	ARID3A	chr22:33906253-33906634	HepG2	liver:	n/a	n/a
10	ARID3A	chr22:33935765-33936813	HepG2	liver:	n/a	n/a
11	ATF1	chr22:33860869-33861049	K562	blood:	n/a	n/a
12	ATF2	chr22:33961513-33962013	GM12878	blood:	n/a	n/a
13	ATF2	chr22:33963983-33964561	GM12878	blood:	n/a	n/a
14	ATF2	chr22:33868131-33869237	GM12878	blood:	n/a	n/a
15	ATF2	chr22:33964016-33964559	GM12878	blood:	n/a	n/a
16	ATF2	chr22:33868200-33869234	GM12878	blood:	n/a	n/a
17	ATF2	chr22:33961357-33962142	GM12878	blood:	n/a	n/a
18	ATF3	chr22:33936281-33936599	A549	lung:	n/a	n/a
19	ATF3	chr22:33936187-33936557	A549	lung:	n/a	n/a
20	ATF3	chr22:33961463-33961809	GM12878	blood:	n/a	n/a
21	BACH1	chr22:33834200-33834439	H1-hESC	embryonic stem cell:	n/a	n/a
22	BATF	chr22:33961470-33962080	GM12878	blood:	n/a	chr22:33961898-33961907
23	BATF	chr22:33872793-33873006	GM12878	blood:	n/a	chr22:33872893-33872903
24	BATF	chr22:33868385-33869207	GM12878	blood:	n/a	n/a
25	BATF	chr22:34032205-34032459	GM12878	blood:	n/a	chr22:34032362-34032373 chr22:34032367-34032377 chr22:34032363-34032373
26	BATF	chr22:33961457-33962095	GM12878	blood:	n/a	chr22:33961898-33961907
27	BATF	chr22:33868152-33869285	GM12878	blood:	n/a	n/a
28	BATF	chr22:34036603-34036823	GM12878	blood:	n/a	n/a
29	BATF	chr22:33891506-33891872	GM12878	blood:	n/a	n/a
30	BATF	chr22:33964003-33964555	GM12878	blood:	n/a	n/a
31	BATF	chr22:33891586-33891884	GM12878	blood:	n/a	n/a
32	BATF	chr22:33866879-33867247	GM12878	blood:	n/a	chr22:33866987-33866995
33	BATF	chr22:33964017-33964493	GM12878	blood:	n/a	n/a
34	BCL11A	chr22:33868365-33868946	GM12878	blood:	n/a	n/a
35	BCL11A	chr22:33964057-33964453	GM12878	blood:	n/a	n/a
36	BCL11A	chr22:33961451-33962023	GM12878	blood:	n/a	n/a
37	BCL11A	chr22:33963990-33964484	GM12878	blood:	n/a	n/a
38	BCL11A	chr22:33868171-33869244	GM12878	blood:	n/a	n/a
39	BCL3	chr22:33935839-33936774	A549	lung:	n/a	chr22:33936082-33936090
40	BCL3	chr22:33963983-33964498	GM12878	blood:	n/a	n/a
41	BCL3	chr22:33936025-33936758	A549	lung:	n/a	chr22:33936082-33936090
42	BCL3	chr22:33873464-33873860	GM12878	blood:	n/a	n/a
43	BCL3	chr22:33868354-33868648	GM12878	blood:	n/a	n/a
44	BCL3	chr22:33868257-33868999	GM12878	blood:	n/a	n/a
45	BCL3	chr22:33863822-33864245	GM12878	blood:	n/a	n/a
46	BCL3	chr22:33834070-33834608	A549	lung:	n/a	n/a
47	BCL3	chr22:33860625-33861035	GM12878	blood:	n/a	n/a
48	BCLAF1	chr22:33868189-33869190	GM12878	blood:	n/a	n/a
49	BCLAF1	chr22:33868067-33869036	GM12878	blood:	n/a	n/a
50	BCLAF1	chr22:33963968-33964564	GM12878	blood:	n/a	n/a

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:33826221..33828441-chr22:33835268..33837530,2	MCF-7	breast:
2	chr22:33914896..33915863-chr22:33975082..33976024,7	MCF-7	breast:
3	chr22:33826221..33828441-chr22:33835268..33837530,2	MCF-7	breast:
4	chr22:33947333..33950249-chr22:33953498..33955694,2	MCF-7	breast:
5	chr22:33697775..33698595-chr22:33975181..33976048,2	MCF-7	breast:
6	chr22:33697824..33698953-chr22:33975158..33976104,6	MCF-7	breast:
7	chr22:34017891..34021270-chr22:34021737..34025602,3	MCF-7	breast:
8	chr22:33834090..33836175-chr22:34315655..34317389,2	MCF-7	breast:
9	chr22:33824218..33826248-chr22:33829091..33830627,2	MCF-7	breast:
10	chr22:34017891..34021270-chr22:34021737..34025602,3	MCF-7	breast:
11	chr22:33914896..33915863-chr22:33975082..33976024,7	MCF-7	breast:
12	chr22:33915114..33915817-chr22:33975164..33976137,2	MCF-7	breast:
13	chr22:33915114..33915817-chr22:33975164..33976137,2	MCF-7	breast:
14	chr22:33934014..33936443-chr22:33938312..33940235,2	MCF-7	breast:
15	chr22:33904729..33906415-chr22:33911852..33913937,2	K562	blood:
16	chr22:33947325..33948831-chr22:33957701..33960475,2	K562	blood:
17	chr22:33824218..33826248-chr22:33829091..33830627,2	MCF-7	breast:
18	chr22:33994236..33996382-chr22:34011754..34014539,2	MCF-7	breast:
19	chr22:33933113..33935485-chr22:33937666..33939783,2	MCF-7	breast:
20	chr22:33908671..33911236-chr22:34314506..34317499,3	MCF-7	breast:
21	chr22:33947333..33950249-chr22:33953498..33955694,2	MCF-7	breast:
22	chr22:33934014..33936443-chr22:33938312..33940235,2	MCF-7	breast:
23	chr22:33964224..33966733-chr22:33974082..33975978,2	MCF-7	breast:
24	chr22:33933113..33935485-chr22:33937666..33939783,2	MCF-7	breast:
25	chr17:31001718..31002627-chr22:33884453..33885240,2	MCF-7	breast:
26	chr22:33994236..33996382-chr22:34011754..34014539,2	MCF-7	breast:
27	chr22:33904729..33906415-chr22:33911852..33913937,2	K562	blood:
28	chr22:33964224..33966733-chr22:33974082..33975978,2	MCF-7	breast:
29	chr22:33947325..33948831-chr22:33957701..33960475,2	K562	blood:

(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-4764-5p	chr22:33832626-33832646	MIMAT0019914
hsa-miR-4764-3p	chr22:33832574-33832595	MIMAT0019915

No data

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

Extended variants
information (count: 10200 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:10200 , 50 per page) page: 1 2 3 4 5 6 7 ... 204

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191543574	chr22:33809150-33809151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561217604	chr22:33809197-33809198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530245322	chr22:33809201-33809202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373010521	chr22:33809231-33809232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549919491	chr22:33809302-33809303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140674809	chr22:33809330-33809331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112084271	chr22:33809379-33809380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139901038	chr22:33809397-33809398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552625904	chr22:33809403-33809404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1004811	chr22:33809429-33809430	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs370423056	chr22:33809433-33809434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531248906	chr22:33809437-33809438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570549928	chr22:33809534-33809535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183450934	chr22:33809546-33809547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576521313	chr22:33809579-33809580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567529179	chr22:33809600-33809601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536455868	chr22:33809611-33809612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539748880	chr22:33809651-33809652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556129547	chr22:33809695-33809696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576174082	chr22:33809697-33809698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187917725	chr22:33809723-33809724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192843612	chr22:33809729-33809730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144725784	chr22:33809741-33809742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114103345	chr22:33809746-33809747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561254406	chr22:33809765-33809766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374653094	chr22:33809787-33809788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530281639	chr22:33809799-33809800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74564881	chr22:33809837-33809838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535507811	chr22:33809869-33809870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563765615	chr22:33809904-33809905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532717705	chr22:33809994-33809995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113656678	chr22:33809995-33809996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566133793	chr22:33810015-33810016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528506545	chr22:33810025-33810026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548558902	chr22:33810095-33810096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140488756	chr22:33810097-33810098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536587942	chr22:33810098-33810099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150463145	chr22:33810102-33810103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368569809	chr22:33810106-33810107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112811253	chr22:33810113-33810114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538798409	chr22:33810114-33810115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558383558	chr22:33810116-33810117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs8141754	chr22:33810205-33810206	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs73882222	chr22:33810232-33810233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182268863	chr22:33810343-33810344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370296962	chr22:33810348-33810349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186465895	chr22:33810412-33810413	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs192527981	chr22:33810423-33810424	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs115122226	chr22:33810479-33810480	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs532615287	chr22:33810506-33810507	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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

Chromatin state (count:2754 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

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	chr22:33806000-33810400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr22:33810400-33810600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr22:33810600-33811200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr22:33810600-33811600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
27	chr22:33810600-33828400	Weak transcription	Fetal Intestine Small	intestine
28	chr22:33811000-33811200	ZNF genes & repeats	Aorta	Aorta
29	chr22:33811200-33811800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr22:33811600-33811800	ZNF genes & repeats	Aorta	Aorta
31	chr22:33811600-33812000	Enhancers	Fetal Lung	lung
32	chr22:33811600-33812400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr22:33811600-33812400	Enhancers	Fetal Muscle Leg	muscle
34	chr22:33811800-33812200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr22:33811800-33812400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr22:33811800-33812400	Enhancers	Left Ventricle	heart
37	chr22:33811800-33812400	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr22:33812200-33815200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr22:33812400-33814200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr22:33812400-33814600	Weak transcription	Left Ventricle	heart
41	chr22:33812400-33814800	Weak transcription	Stomach Mucosa	stomach
42	chr22:33812400-33817800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr22:33812400-33822600	Weak transcription	Fetal Muscle Leg	muscle
44	chr22:33812400-33834000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr22:33813200-33813800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr22:33813600-33824000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr22:33814200-33815600	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr22:33814400-33815600	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr22:33814600-33814800	Enhancers	Psoas Muscle	Psoas
50	chr22:33814600-33815600	Enhancers	Left Ventricle	heart

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