Variant report

Variant	nsv888008
Chromosome Location	chr7:48568425-48652224
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2982 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:2982 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10258981	chr7:48568425-48568426	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143456014	chr7:48568531-48568532	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115803558	chr7:48568560-48568561	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184298474	chr7:48568633-48568634	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550277895	chr7:48568661-48568662	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116257569	chr7:48568664-48568665	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539384644	chr7:48568677-48568678	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148368479	chr7:48568678-48568679	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566369997	chr7:48568756-48568757	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141568836	chr7:48568783-48568784	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189119840	chr7:48568829-48568830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs17662893	chr7:48568846-48568847	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs537862784	chr7:48568869-48568870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568372504	chr7:48568912-48568913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574634879	chr7:48568920-48568921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371422180	chr7:48568960-48568961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557898872	chr7:48568961-48568962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577944702	chr7:48568963-48568964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540614339	chr7:48568964-48568965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116797813	chr7:48568978-48568979	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs17132444	chr7:48568990-48568991	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs181142758	chr7:48568999-48569000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76076090	chr7:48569003-48569004	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150912847	chr7:48569150-48569151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184051158	chr7:48569151-48569152	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140081333	chr7:48569170-48569171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563954421	chr7:48569175-48569176	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557092830	chr7:48569179-48569180	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532932130	chr7:48569227-48569228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs56395407	chr7:48569229-48569230	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs575540576	chr7:48569282-48569283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551016742	chr7:48569361-48569362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs61385328	chr7:48569369-48569370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7809744	chr7:48569434-48569435	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs548732504	chr7:48569480-48569481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565422670	chr7:48569494-48569495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568694300	chr7:48569516-48569517	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537979882	chr7:48569574-48569575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558226920	chr7:48569595-48569596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144037158	chr7:48569611-48569612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534158195	chr7:48569617-48569618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554510301	chr7:48569747-48569748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147261589	chr7:48569775-48569776	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543261253	chr7:48569802-48569803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112118022	chr7:48569815-48569816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576688624	chr7:48569928-48569929	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189348455	chr7:48569932-48569933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564166630	chr7:48569943-48569944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541372335	chr7:48569968-48569969	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532791721	chr7:48569977-48569978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:123)

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
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48523800-48574000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:48547600-48570600	Weak transcription	Spleen	Spleen
3	chr7:48555400-48570800	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr7:48566400-48575000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:48568400-48568800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:48568400-48568800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:48568600-48568800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:48568800-48575200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:48570800-48574200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr7:48574000-48575800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
11	chr7:48574200-48581200	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr7:48575200-48575600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:48575600-48575800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:48575600-48577000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:48575800-48577000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr7:48576800-48577400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:48577000-48577400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:48577000-48577600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:48577000-48577600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
20	chr7:48577000-48577600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
21	chr7:48577200-48577400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
22	chr7:48577200-48577600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr7:48577600-48579800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:48577600-48581400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr7:48579400-48580600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr7:48579400-48580600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr7:48579600-48581000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr7:48579800-48580600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr7:48581200-48582800	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr7:48582800-48583000	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr7:48583000-48583600	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr7:48583600-48585400	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr7:48585400-48586800	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr7:48586800-48587200	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr7:48587200-48588000	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr7:48587400-48588200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr7:48588000-48589200	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr7:48588200-48588600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:48588200-48588800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:48588600-48588800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr7:48588800-48591400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:48589200-48602800	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr7:48590800-48591600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr7:48590800-48592000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:48591400-48591600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr7:48591400-48592200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:48594200-48599400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr7:48598400-48599000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr7:48599400-48600400	Strong transcription	Primary hematopoietic stem cells	blood
50	chr7:48600400-48634200	Weak transcription	Primary hematopoietic stem cells	blood

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