Variant report

Variant	nsv365800
Chromosome Location	chr7:121657633-121658775
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201783771	chr7:121657633-121657634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534461398	chr7:121657638-121657639	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183016509	chr7:121657662-121657663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577629099	chr7:121657666-121657667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1206384	chr7:121657708-121657709	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs1638950	chr7:121657788-121657789	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs188088786	chr7:121657826-121657827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543328722	chr7:121657859-121657860	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192357147	chr7:121657869-121657870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573478661	chr7:121657896-121657897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559899710	chr7:121657906-121657907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182333050	chr7:121657917-121657918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533354224	chr7:121657945-121657946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78497883	chr7:121657960-121657961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187489673	chr7:121657990-121657991	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192959129	chr7:121658058-121658059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142599150	chr7:121658063-121658064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532252356	chr7:121658076-121658077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114598188	chr7:121658209-121658210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548565601	chr7:121658340-121658341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73440939	chr7:121658371-121658372	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs184883255	chr7:121658415-121658416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528281501	chr7:121658417-121658418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189781300	chr7:121658420-121658421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73440940	chr7:121658470-121658471	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs537129804	chr7:121658488-121658489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192982807	chr7:121658489-121658490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569684133	chr7:121658526-121658527	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71530085	chr7:121658567-121658568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116137102	chr7:121658581-121658582	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1206385	chr7:121658595-121658596	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs531801110	chr7:121658600-121658601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34996340	chr7:121658660-121658661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567261659	chr7:121658672-121658673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139993049	chr7:121658716-121658717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553711570	chr7:121658775-121658776	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	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
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute monocytic leukemia	16498392	CNVD
small cell lung cancer	20016488	CNVD
Myxofibrosarcoma	20639860	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121634400-121706000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:121651200-121717600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:121652200-121679000	Weak transcription	NHEK	skin
4	chr7:121652400-121683200	Weak transcription	Brain Germinal Matrix	brain
5	chr7:121653800-121670200	Weak transcription	Fetal Brain Male	brain
6	chr7:121653800-121672600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:121653800-121673600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:121654000-121661200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:121654000-121664000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:121654000-121672200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:121654000-121672400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:121654000-121673200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr7:121654000-121675400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:121654000-121675600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr7:121654000-121679000	Weak transcription	Fetal Brain Female	brain
16	chr7:121654000-121679400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:121654200-121658400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr7:121654200-121671200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:121654600-121659200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr7:121655600-121699000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:121656800-121661800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:121657600-121663000	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr7:121658400-121660000	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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