Variant report

Variant	nsv981407
Chromosome Location	chr7:108899006-108901283
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	chr7:108900168..108902978-chr7:108903344..108906087,2	MCF-7	breast:

Extended variants
information (count: 79 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113800224	chr7:108899049-108899050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374873747	chr7:108899075-108899076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186854052	chr7:108899088-108899089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149613673	chr7:108899102-108899103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112882892	chr7:108899206-108899207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183154801	chr7:108899250-108899251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552477021	chr7:108899251-108899252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74647614	chr7:108899272-108899273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147326665	chr7:108899337-108899338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554054323	chr7:108899353-108899354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572625056	chr7:108899406-108899407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554699393	chr7:108899494-108899495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574477531	chr7:108899545-108899546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536792005	chr7:108899577-108899578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561480245	chr7:108899595-108899596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576797041	chr7:108899660-108899661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186371790	chr7:108899669-108899670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2106443	chr7:108899671-108899672	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs191219846	chr7:108899674-108899675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182821568	chr7:108899768-108899769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2106442	chr7:108899873-108899874	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs530725243	chr7:108899874-108899875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543590403	chr7:108899897-108899898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187632548	chr7:108899913-108899914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140980752	chr7:108899915-108899916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552116689	chr7:108899937-108899938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192826638	chr7:108899971-108899972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528713081	chr7:108900042-108900043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548468100	chr7:108900075-108900076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568601406	chr7:108900086-108900087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537635017	chr7:108900096-108900097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556802373	chr7:108900116-108900117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532589182	chr7:108900122-108900123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183104798	chr7:108900123-108900124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539451424	chr7:108900157-108900158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200284984	chr7:108900163-108900164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552958695	chr7:108900167-108900168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540822443	chr7:108900209-108900210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7459015	chr7:108900230-108900231	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs377190461	chr7:108900256-108900257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542187294	chr7:108900275-108900276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144632678	chr7:108900276-108900277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575378970	chr7:108900303-108900304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544364226	chr7:108900304-108900305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563644589	chr7:108900374-108900375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs60722189	chr7:108900429-108900430	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs545793126	chr7:108900458-108900459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73416873	chr7:108900463-108900464	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs187140075	chr7:108900470-108900471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1023506	chr7:108900494-108900495	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108898600-108902000	Enhancers	Dnd41	blood
2	chr7:108898800-108899400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:108898800-108899600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:108898800-108899600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:108898800-108899600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:108898800-108899800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:108898800-108899800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr7:108898800-108899800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr7:108898800-108899800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr7:108899000-108899400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr7:108899000-108899600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr7:108899000-108899600	Enhancers	Brain Germinal Matrix	brain
13	chr7:108899200-108899800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr7:108899200-108899800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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