Variant report

Variant	nsv519681
Chromosome Location	chr22:33616805-33624845
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	FOS	chr22:33617719-33617806	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr22:33623027-33623171	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr22:33617541-33617822	MCF10A-Er-Src	breast:	n/a	chr22:33617674-33617685

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:20378405..20379102-chr22:33621834..33622612,2	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: 85 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs137463	chr22:33616805-33616806	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs193047421	chr22:33616840-33616841	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116169151	chr22:33616961-33616962	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs137464	chr22:33617009-33617010	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs367934595	chr22:33617037-33617038	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540008102	chr22:33617053-33617054	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553618365	chr22:33617126-33617127	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs5994701	chr22:33617146-33617147	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs112355451	chr22:33617155-33617156	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369618944	chr22:33617156-33617157	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs57144818	chr22:33617173-33617174	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369028083	chr22:33617174-33617175	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs137465	chr22:33617195-33617196	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs566738723	chr22:33617230-33617231	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369984163	chr22:33617232-33617233	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184770511	chr22:33617263-33617264	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143635076	chr22:33617265-33617266	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188523047	chr22:33617272-33617273	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114114487	chr22:33617273-33617274	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs180988845	chr22:33617294-33617295	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552668405	chr22:33617305-33617306	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555657682	chr22:33617307-33617308	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183574267	chr22:33617324-33617325	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs151063697	chr22:33617364-33617365	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567664104	chr22:33617448-33617449	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs567947455	chr22:33617459-33617460	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs75607743	chr22:33617502-33617503	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs375566082	chr22:33617543-33617544	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs569383034	chr22:33617560-33617561	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs530552889	chr22:33617600-33617601	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs368577372	chr22:33617609-33617610	Active TSS Weak transcription Bivalent/Poised TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs141282887	chr22:33617610-33617611	Active TSS Weak transcription Bivalent/Poised TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs554798659	chr22:33617702-33617703	Active TSS Weak transcription Bivalent/Poised TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs62232871	chr22:33617703-33617704	Active TSS Weak transcription Bivalent/Poised TSS Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs540142239	chr22:33617737-33617738	Active TSS Weak transcription Bivalent/Poised TSS Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs189431752	chr22:33617766-33617767	Active TSS Weak transcription Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs567096615	chr22:33617781-33617782	Active TSS Weak transcription Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs5749579	chr22:33617801-33617802	Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs5998820	chr22:33617815-33617816	Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs137466	chr22:33617882-33617883	Active TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs8139300	chr22:33617923-33617924	Active TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111428807	chr22:33617928-33617929	Active TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116910985	chr22:33617929-33617930	Active TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145116970	chr22:33617943-33617944	Active TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56824716	chr22:33617956-33617957	Active TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs376999733	chr22:33617959-33617960	Active TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76835995	chr22:33617974-33617975	Active TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182208915	chr22:33618013-33618014	Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187242447	chr22:33618014-33618015	Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138980823	chr22:33618049-33618050	Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33615600-33617800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr22:33616000-33617600	Active TSS	Placenta	Placenta
3	chr22:33616200-33617400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr22:33616400-33617600	Active TSS	Adipose Nuclei	Adipose
5	chr22:33616600-33617400	Enhancers	Fetal Kidney	kidney
6	chr22:33616800-33617000	Bivalent/Poised TSS	Primary B cells from cord blood	blood
7	chr22:33616800-33617000	Active TSS	NHDF-Ad	bronchial
8	chr22:33616800-33618000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr22:33617000-33617200	Flanking Active TSS	NHDF-Ad	bronchial
10	chr22:33617000-33617600	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr22:33617000-33617800	Active TSS	Primary B cells from cord blood	blood
12	chr22:33617200-33617400	Active TSS	NHDF-Ad	bronchial
13	chr22:33617400-33617600	Flanking Active TSS	NHDF-Ad	bronchial
14	chr22:33617400-33618000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr22:33617600-33617800	Bivalent/Poised TSS	Adipose Nuclei	Adipose
16	chr22:33617600-33618000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr22:33617600-33618200	Enhancers	NHDF-Ad	bronchial
18	chr22:33617800-33618000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr22:33617800-33618200	Bivalent Enhancer	Adipose Nuclei	Adipose
20	chr22:33618000-33618200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr22:33618200-33618400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr22:33618200-33618400	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr22:33623400-33624200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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