Variant report

Variant	nsv970936
Chromosome Location	chr7:124937834-124941951
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	MYC	chr7:124938330-124938359	GM12878	blood:	n/a	n/a
2	NFYB	chr7:124939066-124939453	K562	blood:	n/a	n/a
3	NFYB	chr7:124939097-124939428	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POT1-5	chr7:124940558-124940932	NONHSAT123105

Variant related genes	Relation type
ENSG00000213291	TF binding region

Extended variants
information (count: 154 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:154 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183135554	chr7:124938401-124938402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187759795	chr7:124938402-124938403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536580933	chr7:124938470-124938471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553365669	chr7:124938480-124938481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191905422	chr7:124938495-124938496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375061786	chr7:124938519-124938520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538381685	chr7:124938525-124938526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200160396	chr7:124938526-124938527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538848713	chr7:124938527-124938528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13245378	chr7:124938534-124938535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13245388	chr7:124938557-124938558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13232517	chr7:124938562-124938563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559018683	chr7:124938574-124938575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13245218	chr7:124938577-124938578	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs13245112	chr7:124938578-124938579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72607732	chr7:124938604-124938605	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs372125958	chr7:124938624-124938625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370169519	chr7:124938631-124938632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76932274	chr7:124938652-124938653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78423186	chr7:124938653-124938654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79515847	chr7:124938657-124938658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188262084	chr7:124938667-124938668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560185538	chr7:124938680-124938681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532379772	chr7:124938693-124938694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544213688	chr7:124938715-124938716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113110638	chr7:124938721-124938722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192765023	chr7:124938804-124938805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144937030	chr7:124938825-124938826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547864781	chr7:124938871-124938872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184417260	chr7:124938931-124938932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74569132	chr7:124938941-124938942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539573865	chr7:124938962-124938963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547309861	chr7:124938996-124938997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12674092	chr7:124938998-124938999	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs539225152	chr7:124939020-124939021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557863110	chr7:124939023-124939024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372222803	chr7:124939034-124939035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147921639	chr7:124939052-124939053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs61571038	chr7:124939076-124939077	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs573094505	chr7:124939094-124939095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2896362	chr7:124939095-124939096	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs150966772	chr7:124939118-124939119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574932871	chr7:124939199-124939200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540259862	chr7:124939203-124939204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140698126	chr7:124939204-124939205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546388936	chr7:124939208-124939209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577019970	chr7:124939211-124939212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546002092	chr7:124939226-124939227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374389716	chr7:124939253-124939254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562376155	chr7:124939288-124939289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20858243	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124938400-124939400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:124939400-124939800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:124939800-124956800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:124940600-124943600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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