Variant report

Variant	nsv981810
Chromosome Location	chr7:83946250-83952505
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 263 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:263 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572330146	chr7:83946265-83946266	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs111749129	chr7:83946290-83946291	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs369572030	chr7:83946291-83946292	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs371572901	chr7:83946300-83946301	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs79064052	chr7:83946302-83946303	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs113193260	chr7:83946317-83946318	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs181051391	chr7:83946323-83946324	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs10488590	chr7:83946379-83946380	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs113227065	chr7:83946388-83946389	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs111413637	chr7:83946410-83946411	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs538467805	chr7:83946444-83946445	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs562254521	chr7:83946477-83946478	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs116408896	chr7:83946483-83946484	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs558684443	chr7:83946493-83946494	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs547749670	chr7:83946498-83946499	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs572131980	chr7:83946529-83946530	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs28386953	chr7:83946571-83946572	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs185589434	chr7:83946612-83946613	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs585661	chr7:83946623-83946624	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs113088060	chr7:83946629-83946630	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs373813327	chr7:83946674-83946675	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs553275350	chr7:83946683-83946684	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs551874519	chr7:83946730-83946731	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs570165551	chr7:83946738-83946739	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs568172907	chr7:83946773-83946774	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs10240629	chr7:83946777-83946778	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs555981348	chr7:83946847-83946848	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs367859085	chr7:83946906-83946907	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs535771130	chr7:83946962-83946963	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs553769095	chr7:83947011-83947012	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs189588797	chr7:83947149-83947150	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs572422210	chr7:83947165-83947166	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs560818041	chr7:83947174-83947175	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs574527783	chr7:83947177-83947178	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs56270377	chr7:83947214-83947215	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs558289112	chr7:83947230-83947231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576648178	chr7:83947259-83947260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554023581	chr7:83947341-83947342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543928430	chr7:83947395-83947396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562294182	chr7:83947399-83947400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529449426	chr7:83947403-83947404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577156727	chr7:83947407-83947408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs60482844	chr7:83947408-83947409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181969139	chr7:83947426-83947427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532017434	chr7:83947463-83947464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73189030	chr7:83947468-83947469	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs371810532	chr7:83947482-83947483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs185980389	chr7:83947511-83947512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73189032	chr7:83947528-83947529	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs570097629	chr7:83947565-83947566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83930800-83950000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:83942400-83947000	Active TSS	Stomach Smooth Muscle	stomach
3	chr7:83942800-83946800	Active TSS	Colon Smooth Muscle	Colon
4	chr7:83943400-83946600	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr7:83943600-83946800	Active TSS	Rectal Smooth Muscle	rectum
6	chr7:83945800-83947200	Active TSS	NHDF-Ad	bronchial
7	chr7:83946000-83946400	Active TSS	Right Atrium	heart
8	chr7:83946400-83946600	Enhancers	Fetal Heart	heart
9	chr7:83946400-83947600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:83947200-83966800	Weak transcription	NHDF-Ad	bronchial

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