Variant report

Variant	nsv1018717
Chromosome Location	chr7:109827268-109851356
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:109484230..109484803-chr7:109844371..109845272,2	MCF-7	breast:
2	chr7:109848112..109850390-chr7:109852917..109854789,2	K562	blood:
3	chr7:109729949..109731077-chr7:109844325..109845051,5	MCF-7	breast:
4	chr7:109829687..109832206-chr7:109833977..109835714,2	MCF-7	breast:
5	chr7:109829687..109832206-chr7:109833977..109835714,2	MCF-7	breast:

Extended variants
information (count: 495 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:495 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1723584	chr7:109827612-109827613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1722089	chr7:109827638-109827639	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs10249619	chr7:109827761-109827762	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs78976280	chr7:109827775-109827776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548335451	chr7:109827782-109827783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1723583	chr7:109827799-109827800	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs552587517	chr7:109827844-109827845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373023714	chr7:109827864-109827865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531083943	chr7:109827878-109827879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551235576	chr7:109827895-109827896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570796590	chr7:109827921-109827922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183016195	chr7:109827973-109827974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187389272	chr7:109828030-109828031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1723582	chr7:109828060-109828061	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs192171935	chr7:109828077-109828078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142552374	chr7:109828081-109828082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575373005	chr7:109828126-109828127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537783535	chr7:109828134-109828135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558024904	chr7:109828136-109828137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184799649	chr7:109828148-109828149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143332807	chr7:109828155-109828156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148383683	chr7:109828287-109828288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549017722	chr7:109828318-109828319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11525854	chr7:109828329-109828330	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs190451730	chr7:109828335-109828336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538871953	chr7:109828384-109828385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs202138922	chr7:109828385-109828386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141572831	chr7:109828409-109828410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531121833	chr7:109828441-109828442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551034876	chr7:109828449-109828450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150834710	chr7:109828488-109828489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533371196	chr7:109828490-109828491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138150933	chr7:109828501-109828502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565782817	chr7:109832039-109832040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534651287	chr7:109832058-109832059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551182838	chr7:109832066-109832067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534055951	chr7:109832099-109832100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557262904	chr7:109832162-109832163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374113365	chr7:109832166-109832167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111225916	chr7:109832189-109832190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs398005824	chr7:109832216-109832217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs56937470	chr7:109832217-109832218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574805464	chr7:109832219-109832220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs17157454	chr7:109832230-109832231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556904805	chr7:109832234-109832235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569615584	chr7:109832238-109832239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546161975	chr7:109832244-109832245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537182881	chr7:109832300-109832301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559686311	chr7:109832313-109832314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148969809	chr7:109832356-109832357	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109827600-109828600	Enhancers	Fetal Intestine Small	intestine
2	chr7:109832000-109832400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr7:109840800-109843400	Weak transcription	Dnd41	blood
4	chr7:109843400-109845200	Strong transcription	Dnd41	blood
5	chr7:109845200-109851200	Weak transcription	Dnd41	blood
6	chr7:109845800-109846800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:109851200-109851800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:109851200-109852400	Enhancers	Dnd41	blood

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