Variant report

Variant	nsv888005
Chromosome Location	chr7:48312674-48318811
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 296 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:296 , 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	rs1358066	chr7:48312674-48312675	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577664500	chr7:48312688-48312689	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200746180	chr7:48312721-48312722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181907450	chr7:48312723-48312724	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560177465	chr7:48312747-48312748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376485242	chr7:48312752-48312753	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369803433	chr7:48312772-48312773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374531946	chr7:48312819-48312820	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs199793862	chr7:48312820-48312821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368935228	chr7:48312837-48312838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373766444	chr7:48312888-48312889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200178016	chr7:48312915-48312916	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377600189	chr7:48312969-48312970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185694250	chr7:48313000-48313001	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374146360	chr7:48313003-48313004	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542433671	chr7:48313037-48313038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562735080	chr7:48313059-48313060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531414625	chr7:48313074-48313075	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190498052	chr7:48313084-48313085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73697119	chr7:48313091-48313092	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs527641280	chr7:48313105-48313106	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376141167	chr7:48313129-48313130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547429975	chr7:48313144-48313145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567861570	chr7:48313153-48313154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73697120	chr7:48313155-48313156	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs374591681	chr7:48313156-48313157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550092103	chr7:48313167-48313168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs202129234	chr7:48313183-48313184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539238008	chr7:48313197-48313198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs367693209	chr7:48313207-48313208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371435198	chr7:48313208-48313209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374959202	chr7:48313213-48313214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373749946	chr7:48313218-48313219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367899956	chr7:48313222-48313223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557846671	chr7:48313244-48313245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75846399	chr7:48313256-48313257	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563333696	chr7:48313274-48313275	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553756075	chr7:48313299-48313300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs202039023	chr7:48313330-48313331	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141067757	chr7:48313341-48313342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201391209	chr7:48313381-48313382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527278126	chr7:48313393-48313394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564082862	chr7:48313428-48313429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562660287	chr7:48313440-48313441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575788628	chr7:48313453-48313454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183028136	chr7:48313509-48313510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs17547830	chr7:48313510-48313511	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs185411926	chr7:48313529-48313530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs17132195	chr7:48313563-48313564	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs191538408	chr7:48313593-48313594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

Disease	PMID	Source
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Biliary cancer	19435499	CNVD
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	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
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	17237825	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Abnormal phenotypes	18644119	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Non-small cell lung cancer	17643093	CNVD
Ovarian cancer	18182111	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17369134	CNVD
Barrett''s esophagus	18559552	CNVD
head and neck squamous cell carcinoma	16943533	CNVD
Anaplastic thyroid cancer	17079354	CNVD
Basal-like breast cancer	17875215	CNVD
Colorectal cancer	16882699	CNVD
Colorectal cancer	18794099	CNVD
Gastrointestinal stromal cancer	17643098	CNVD
Lung cancer	18381415	CNVD
Metastatic colorectal cancer	17664472	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	17673923	CNVD
Non-small cell lung cancer	17975165	CNVD
Non-small cell lung cancer	19622585	CNVD
Ovarian cancer	16607561	CNVD
Squamous cell cancer	19670535	CNVD
head and neck squamous cell carcinoma	16818711	CNVD
small cell lung cancer	18829487	CNVD
Breast cancer	17661082	CNVD
Adenocarcinoma	19260752	CNVD
Esophageal cancer	16575012	CNVD
Lung adenocarcinoma	19138956	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung adenocarcinoma	18258923	CNVD
Lung cancer	19138956	CNVD
Lung cancer	18379350	CNVD
Lung cancer	18258923	CNVD
Non-small cell lung cancer	18304967	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	19260752	CNVD
Non-small cell lung cancer	17079354	CNVD
Non-small cell lung cancer	18559607	CNVD
Rectal cancer	19506820	CNVD
Triple-negative breast cancer	18950515	CNVD
head and neck squamous cell carcinoma	18813952	CNVD
Non-small cell lung cancer	17504988	CNVD
Non-small cell lung cancer	16943533	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	17538160	CNVD
Colorectal cancer	19712476	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19671679	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Autism	22495309	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48308200-48315600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr7:48309200-48314000	Weak transcription	NHLF	lung
3	chr7:48309400-48314000	Weak transcription	NHEK	skin
4	chr7:48309600-48314000	Weak transcription	HMEC	breast
5	chr7:48309600-48314200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:48309600-48314200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:48314000-48314400	Enhancers	NHEK	skin
8	chr7:48314000-48314600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:48314000-48314800	Enhancers	HMEC	breast
10	chr7:48314000-48314800	Enhancers	NHLF	lung
11	chr7:48314000-48315000	Enhancers	HUVEC	blood vessel
12	chr7:48314200-48314600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:48314200-48314800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:48314200-48315000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:48314400-48314600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:48314600-48319200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:48314600-48319400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:48314800-48316600	Weak transcription	NHLF	lung
19	chr7:48314800-48318200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:48314800-48319000	Weak transcription	HMEC	breast
21	chr7:48315600-48319800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr7:48316600-48317600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:48316600-48317600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:48316600-48317600	Enhancers	NHLF	lung
25	chr7:48316800-48317200	Enhancers	Fetal Thymus	thymus
26	chr7:48316800-48317200	Enhancers	Thymus	Thymus
27	chr7:48316800-48317600	Enhancers	Primary hematopoietic stem cells	blood
28	chr7:48317200-48319200	Weak transcription	Thymus	Thymus
29	chr7:48317200-48319800	Weak transcription	Fetal Thymus	thymus
30	chr7:48317600-48317800	Weak transcription	NHLF	lung
31	chr7:48317600-48318800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:48317600-48319000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr7:48317600-48319000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:48317800-48318200	Enhancers	NHLF	lung
35	chr7:48318000-48319200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr7:48318200-48318600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr7:48318200-48319000	Weak transcription	NHLF	lung
38	chr7:48318200-48320600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:48318400-48320400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:48318600-48319800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:48318800-48320600	Enhancers	NHEK	skin
42	chr7:48318800-48322000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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