Variant report

Variant	nsv544681
Chromosome Location	chr22:33602852-33658189
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	ATF2	chr22:33639544-33640036	GM12878	blood:	n/a	n/a
2	ATF2	chr22:33643712-33644217	GM12878	blood:	n/a	n/a
3	ATF2	chr22:33643640-33644225	GM12878	blood:	n/a	n/a
4	ATF2	chr22:33639496-33640037	GM12878	blood:	n/a	n/a
5	BATF	chr22:33638155-33638326	GM12878	blood:	n/a	chr22:33638260-33638271
6	BATF	chr22:33639697-33640018	GM12878	blood:	n/a	n/a
7	BATF	chr22:33639673-33640004	GM12878	blood:	n/a	n/a
8	BATF	chr22:33643727-33644167	GM12878	blood:	n/a	n/a
9	BATF	chr22:33643744-33644127	GM12878	blood:	n/a	n/a
10	BCL11A	chr22:33643755-33644076	GM12878	blood:	n/a	chr22:33643862-33643871
11	BCL11A	chr22:33639774-33640011	GM12878	blood:	n/a	n/a
12	BCL11A	chr22:33639564-33640010	GM12878	blood:	n/a	n/a
13	BCL11A	chr22:33643700-33644125	GM12878	blood:	n/a	chr22:33643862-33643871
14	BCL3	chr22:33639571-33639979	GM12878	blood:	n/a	n/a
15	BCL3	chr22:33643728-33644139	GM12878	blood:	n/a	chr22:33643862-33643871
16	BCLAF1	chr22:33639519-33639998	GM12878	blood:	n/a	n/a
17	BCLAF1	chr22:33643580-33644163	GM12878	blood:	n/a	chr22:33643862-33643871
18	BCLAF1	chr22:33643639-33644094	GM12878	blood:	n/a	chr22:33643862-33643871
19	BHLHE40	chr22:33643713-33644143	GM12878	blood:	n/a	n/a
20	BHLHE40	chr22:33639598-33639976	GM12878	blood:	n/a	n/a
21	BHLHE40	chr22:33606153-33606352	K562	blood:	n/a	n/a
22	BRCA1	chr22:33606211-33606377	HepG2	liver:	n/a	n/a
23	CEBPB	chr22:33629893-33630164	A549	lung:	n/a	chr22:33630013-33630024
24	CEBPB	chr22:33609788-33609977	HepG2	liver:	n/a	chr22:33609870-33609881
25	CEBPB	chr22:33629843-33630135	HepG2	liver:	n/a	chr22:33630013-33630024
26	CEBPB	chr22:33643661-33644263	GM12878	blood:	n/a	n/a
27	CEBPB	chr22:33650284-33650528	HepG2	liver:	n/a	n/a
28	CEBPB	chr22:33639538-33640118	GM12878	blood:	n/a	n/a
29	CEBPB	chr22:33629846-33630135	IMR90	lung:	n/a	chr22:33630013-33630024
30	CEBPB	chr22:33609780-33609998	K562	blood:	n/a	chr22:33609870-33609881
31	CEBPB	chr22:33609844-33609913	H1-hESC	embryonic stem cell:	n/a	chr22:33609870-33609881
32	CREB1	chr22:33639446-33640064	GM12878	blood:	n/a	n/a
33	CREB1	chr22:33643687-33644273	GM12878	blood:	n/a	n/a
34	CREB1	chr22:33639799-33640062	GM12878	blood:	n/a	n/a
35	CTCF	chr22:33606220-33606370	BJ	skin:	n/a	chr22:33606303-33606321 chr22:33606304-33606320 chr22:33606298-33606319
36	CTCF	chr22:33606540-33606690	Caco-2	colon:	n/a	n/a
37	CTCF	chr22:33606215-33606413	GM20000	blood:	n/a	chr22:33606303-33606321 chr22:33606304-33606320 chr22:33606298-33606319
38	CTCF	chr22:33606280-33606430	RPTEC	kidney:	n/a	chr22:33606303-33606321 chr22:33606304-33606320 chr22:33606298-33606319
39	CTCF	chr22:33606640-33606790	HFF-Myc	foreskin:	n/a	n/a
40	CTCF	chr22:33606260-33606410	HFF-Myc	foreskin:	n/a	chr22:33606303-33606321 chr22:33606304-33606320 chr22:33606298-33606319
41	CTCF	chr22:33606240-33606390	WERI-Rb-1	eye:	n/a	chr22:33606303-33606321 chr22:33606304-33606320 chr22:33606298-33606319
42	CTCF	chr22:33606200-33606350	GM12868	blood:	n/a	chr22:33606303-33606321 chr22:33606304-33606320 chr22:33606298-33606319
43	CTCF	chr22:33606220-33606370	WI-38	lung:	n/a	chr22:33606303-33606321 chr22:33606304-33606320 chr22:33606298-33606319
44	CTCF	chr22:33606200-33606350	HVMF	connective:	n/a	chr22:33606303-33606321 chr22:33606304-33606320 chr22:33606298-33606319
45	CTCF	chr22:33606240-33606390	GM12865	blood:	n/a	chr22:33606303-33606321 chr22:33606304-33606320 chr22:33606298-33606319
46	CTCF	chr22:33606220-33606370	HEEpiC	esophagus:	n/a	chr22:33606303-33606321 chr22:33606304-33606320 chr22:33606298-33606319
47	CTCF	chr22:33605904-33606678	A549	lung:	n/a	chr22:33606303-33606321 chr22:33606304-33606320 chr22:33606298-33606319
48	CTCF	chr22:33606167-33606462	MCF-7	breast:	n/a	chr22:33606303-33606321 chr22:33606304-33606320 chr22:33606298-33606319
49	CTCF	chr22:33606074-33606446	H1-hESC	embryonic stem cell:	n/a	chr22:33606303-33606321 chr22:33606304-33606320 chr22:33606298-33606319
50	CTCF	chr22:33606200-33606350	GM12870	blood:	n/a	chr22:33606303-33606321 chr22:33606304-33606320 chr22:33606298-33606319

No.	Distal block	Cell Line	Cell type
1	chr22:33414029..33414830-chr22:33605775..33606331,3	MCF-7	breast:
2	chr22:33396422..33396949-chr22:33605944..33606773,2	MCF-7	breast:
3	chr22:33612529..33613227-chr22:33669901..33670840,2	MCF-7	breast:
4	chr22:33647540..33649904-chr22:33665416..33667632,2	K562	blood:
5	chr14:20378405..20379102-chr22:33621834..33622612,2	MCF-7	breast:
6	chr22:33612737..33613244-chr22:33670107..33670653,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SYN3-3	chr22:33617588-33617737	ENSG00000244472.1

Variant related genes	Relation type
LARGE	TF binding region

Extended variants
information (count: 1265 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1265 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567956063	chr22:33602867-33602868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536748600	chr22:33602894-33602895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556786006	chr22:33602937-33602938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570389448	chr22:33602960-33602961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs16991966	chr22:33602984-33602985	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs552959070	chr22:33603005-33603006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573441019	chr22:33603023-33603024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144704374	chr22:33603029-33603030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555992063	chr22:33603061-33603062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79058535	chr22:33603062-33603063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112753727	chr22:33603109-33603110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77619341	chr22:33603112-33603113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111528187	chr22:33603114-33603115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs16991968	chr22:33603178-33603179	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs565978242	chr22:33603185-33603186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146694816	chr22:33603311-33603312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528032979	chr22:33603323-33603324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188783535	chr22:33603357-33603358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540243386	chr22:33603404-33603405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181349723	chr22:33603533-33603534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560570498	chr22:33603536-33603537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114150169	chr22:33603543-33603544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548128004	chr22:33603605-33603606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370333052	chr22:33603635-33603636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74726136	chr22:33603645-33603646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551358112	chr22:33603671-33603672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571203129	chr22:33603677-33603678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185570699	chr22:33603678-33603679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550619355	chr22:33603715-33603716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112278336	chr22:33603767-33603768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140339581	chr22:33603895-33603896	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs539552048	chr22:33603928-33603929	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs117567626	chr22:33604003-33604004	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs150338955	chr22:33604023-33604024	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs138089603	chr22:33604031-33604032	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs12484183	chr22:33604051-33604052	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs149528968	chr22:33604079-33604080	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs538084816	chr22:33604093-33604094	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs558352188	chr22:33604115-33604116	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs114186205	chr22:33604128-33604129	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs374561520	chr22:33604174-33604175	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs200465661	chr22:33604183-33604184	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs139095600	chr22:33604185-33604186	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs540728997	chr22:33604191-33604192	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs5749577	chr22:33604229-33604230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560240209	chr22:33604231-33604232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573742928	chr22:33604252-33604253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562340228	chr22:33604298-33604299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541709951	chr22:33604358-33604359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs16991969	chr22:33604365-33604366	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:66)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33601000-33606000	Weak transcription	Primary B cells from peripheral blood	blood
2	chr22:33601800-33603800	Weak transcription	GM12878-XiMat	blood
3	chr22:33603800-33604200	ZNF genes & repeats	GM12878-XiMat	blood
4	chr22:33604200-33606400	Weak transcription	GM12878-XiMat	blood
5	chr22:33606000-33606200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
6	chr22:33606000-33606600	Enhancers	Liver	Liver
7	chr22:33606000-33606600	Enhancers	Brain Cingulate Gyrus	brain
8	chr22:33606000-33606600	Bivalent Enhancer	HepG2	liver
9	chr22:33606000-33606800	Enhancers	Primary B cells from peripheral blood	blood
10	chr22:33606200-33606400	Bivalent Enhancer	Fetal Stomach	stomach
11	chr22:33606400-33606600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr22:33606400-33606600	Bivalent Enhancer	Adipose Nuclei	Adipose
13	chr22:33606400-33606600	Enhancers	Pancreas	Pancrea
14	chr22:33606400-33606600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
15	chr22:33606400-33606800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr22:33606400-33606800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr22:33606400-33606800	Enhancers	GM12878-XiMat	blood
18	chr22:33606400-33606800	Enhancers	HMEC	breast
19	chr22:33606400-33607000	Bivalent Enhancer	NHEK	skin
20	chr22:33606600-33606800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr22:33606600-33606800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr22:33606600-33606800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr22:33606800-33607800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr22:33607800-33608000	Enhancers	Primary B cells from peripheral blood	blood
25	chr22:33610800-33615800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr22:33614200-33614800	Enhancers	HepG2	liver
27	chr22:33615600-33617800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr22:33615800-33616200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr22:33616000-33616200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr22:33616000-33617600	Active TSS	Placenta	Placenta
31	chr22:33616200-33616400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr22:33616200-33617400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr22:33616400-33616600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr22:33616400-33617600	Active TSS	Adipose Nuclei	Adipose
35	chr22:33616600-33616800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr22:33616600-33616800	Flanking Active TSS	NHDF-Ad	bronchial
37	chr22:33616600-33617400	Enhancers	Fetal Kidney	kidney
38	chr22:33616800-33617000	Bivalent/Poised TSS	Primary B cells from cord blood	blood
39	chr22:33616800-33617000	Active TSS	NHDF-Ad	bronchial
40	chr22:33616800-33618000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr22:33617000-33617200	Flanking Active TSS	NHDF-Ad	bronchial
42	chr22:33617000-33617600	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr22:33617000-33617800	Active TSS	Primary B cells from cord blood	blood
44	chr22:33617200-33617400	Active TSS	NHDF-Ad	bronchial
45	chr22:33617400-33617600	Flanking Active TSS	NHDF-Ad	bronchial
46	chr22:33617400-33618000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr22:33617600-33617800	Bivalent/Poised TSS	Adipose Nuclei	Adipose
48	chr22:33617600-33618000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr22:33617600-33618200	Enhancers	NHDF-Ad	bronchial
50	chr22:33617800-33618000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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