Variant report

Variant	nsv967460
Chromosome Location	chr7:84280209-84284048
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	chr7:84275439..84277976-chr7:84279778..84282553,2	K562	blood:
2	chr7:84273543..84275443-chr7:84283712..84286350,2	K562	blood:

Extended variants
information (count: 139 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186380829	chr7:84280215-84280216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533719634	chr7:84280220-84280221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558355077	chr7:84280223-84280224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570580766	chr7:84280236-84280237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537963302	chr7:84280266-84280267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556476309	chr7:84280316-84280317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574740508	chr7:84280322-84280323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553148525	chr7:84280354-84280355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149811873	chr7:84280385-84280386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554156998	chr7:84280394-84280395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115558539	chr7:84280436-84280437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546392628	chr7:84280456-84280457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546886801	chr7:84280548-84280549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564686969	chr7:84280596-84280597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536224985	chr7:84280640-84280641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532207230	chr7:84280646-84280647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566566382	chr7:84280673-84280674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543974185	chr7:84280709-84280710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562649247	chr7:84280741-84280742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529648219	chr7:84280782-84280783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191133802	chr7:84280789-84280790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145816999	chr7:84280793-84280794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527602754	chr7:84280798-84280799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551918578	chr7:84280840-84280841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10085540	chr7:84280849-84280850	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs572922371	chr7:84280859-84280860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140151273	chr7:84280873-84280874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556374581	chr7:84280898-84280899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568576180	chr7:84280901-84280902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535459137	chr7:84280933-84280934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181584444	chr7:84280991-84280992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186243854	chr7:84281050-84281051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145683554	chr7:84281052-84281053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546531614	chr7:84281055-84281056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147753099	chr7:84281064-84281065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576704929	chr7:84281120-84281121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575150922	chr7:84281130-84281131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs62473022	chr7:84281181-84281182	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs376959202	chr7:84281204-84281205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191908409	chr7:84281244-84281245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577369330	chr7:84281269-84281270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142335201	chr7:84281341-84281342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182780536	chr7:84281476-84281477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143260082	chr7:84281487-84281488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527540931	chr7:84281497-84281498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12154659	chr7:84281567-84281568	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs559455338	chr7:84281569-84281570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs151274270	chr7:84281585-84281586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549975679	chr7:84281603-84281604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140500063	chr7:84281612-84281613	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84277800-84281000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:84278000-84281400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr7:84278000-84285000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:84278200-84281200	Weak transcription	Fetal Lung	lung
5	chr7:84278200-84281400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:84278400-84280400	Enhancers	NHDF-Ad	bronchial
7	chr7:84278600-84283600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:84278800-84285000	Weak transcription	HSMM	muscle
9	chr7:84279000-84280800	Weak transcription	Osteobl	bone
10	chr7:84279000-84284600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:84279600-84281000	Weak transcription	NHLF	lung
12	chr7:84280000-84280800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr7:84280400-84280800	Weak transcription	NHDF-Ad	bronchial
14	chr7:84280800-84281000	Enhancers	Osteobl	bone
15	chr7:84280800-84281600	Enhancers	NHDF-Ad	bronchial
16	chr7:84281000-84281200	Enhancers	NHLF	lung
17	chr7:84281000-84281600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:84281200-84281800	Enhancers	Fetal Lung	lung
19	chr7:84281400-84281600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:84281400-84281800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr7:84281600-84285000	Weak transcription	NHDF-Ad	bronchial
22	chr7:84283600-84285400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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