Variant report

Variant	nsv1016581
Chromosome Location	chr7:109423176-109454259
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:109452833..109454349-chr7:109467899..109470407,2	K562	blood:

Extended variants
information (count: 232 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:232 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3107926	chr7:109423176-109423177	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557937503	chr7:109423186-109423187	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs578133763	chr7:109423234-109423235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540758985	chr7:109423258-109423259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149498164	chr7:109423343-109423344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529144591	chr7:109423345-109423346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147231433	chr7:109423363-109423364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188960621	chr7:109423374-109423375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531173082	chr7:109423394-109423395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551339683	chr7:109423461-109423462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570936992	chr7:109423489-109423490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527379502	chr7:109423591-109423592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192213291	chr7:109423680-109423681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184750758	chr7:109423702-109423703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7790315	chr7:109423745-109423746	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs371245048	chr7:109423773-109423774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs118135139	chr7:109423794-109423795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs59055296	chr7:109423829-109423830	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs140600445	chr7:109423857-109423858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190652764	chr7:109423893-109423894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs180850622	chr7:109423894-109423895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534281459	chr7:109423917-109423918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554319961	chr7:109423983-109423984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573835152	chr7:109424003-109424004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs3114815	chr7:109424105-109424106	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs562573704	chr7:109424178-109424179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186246610	chr7:109424234-109424235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200836394	chr7:109424236-109424237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201653286	chr7:109424242-109424243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144633908	chr7:109424250-109424251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs67612014	chr7:109424251-109424252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145684612	chr7:109424258-109424259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs397744962	chr7:109424259-109424260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73191852	chr7:109424260-109424261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189510491	chr7:109424280-109424281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs13311363	chr7:109424290-109424291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142718676	chr7:109424299-109424300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376801738	chr7:109424300-109424301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111486969	chr7:109424305-109424306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527300657	chr7:109424306-109424307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568942704	chr7:109424313-109424314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371758999	chr7:109424316-109424317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547042183	chr7:109424317-109424318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369311730	chr7:109424323-109424324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs9297147	chr7:109424324-109424325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9640727	chr7:109424330-109424331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs28496050	chr7:109424332-109424333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549540231	chr7:109424333-109424334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs71149524	chr7:109424339-109424340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375351755	chr7:109424340-109424341	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Acute myeloid leukemia	16864856	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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	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
Autism	19401682	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	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109423000-109423200	Flanking Active TSS	Dnd41	blood
2	chr7:109423200-109425600	Enhancers	Dnd41	blood
3	chr7:109434600-109435200	ZNF genes & repeats	Dnd41	blood
4	chr7:109435000-109435400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:109435200-109435800	Weak transcription	Dnd41	blood
6	chr7:109435800-109436000	Enhancers	Dnd41	blood

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