Variant report

Variant	nsv1031533
Chromosome Location	chr7:109758847-109801605
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 998 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:998 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183745350	chr7:109758854-109758855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148135464	chr7:109758892-109758893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555111866	chr7:109758895-109758896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141925326	chr7:109758897-109758898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78235844	chr7:109759017-109759018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540204230	chr7:109759028-109759029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557159006	chr7:109759035-109759036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150697915	chr7:109759036-109759037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs59675015	chr7:109759082-109759083	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs78186687	chr7:109759090-109759091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188462626	chr7:109759096-109759097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548436005	chr7:109759098-109759099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181356125	chr7:109759112-109759113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541382051	chr7:109759135-109759136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561470085	chr7:109759156-109759157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185824775	chr7:109759182-109759183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376956315	chr7:109759183-109759184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75514810	chr7:109759201-109759202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139936727	chr7:109759221-109759222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532593507	chr7:109759269-109759270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532235095	chr7:109759285-109759286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149353055	chr7:109759293-109759294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189824883	chr7:109759308-109759309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1722041	chr7:109759326-109759327	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs569033544	chr7:109759336-109759337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548572847	chr7:109759379-109759380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568584009	chr7:109759418-109759419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537576463	chr7:109759460-109759461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146298897	chr7:109759484-109759485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577012264	chr7:109759554-109759555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539245524	chr7:109759563-109759564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12531770	chr7:109759613-109759614	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs573028610	chr7:109759617-109759618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541443044	chr7:109759618-109759619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561383988	chr7:109759649-109759650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574874492	chr7:109759652-109759653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543950275	chr7:109759665-109759666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115406224	chr7:109759668-109759669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112731066	chr7:109759677-109759678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374531195	chr7:109759693-109759694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548252711	chr7:109759728-109759729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560015574	chr7:109759757-109759758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566540376	chr7:109759795-109759796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528745276	chr7:109759808-109759809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181932276	chr7:109759812-109759813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568495068	chr7:109759863-109759864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537435691	chr7:109759875-109759876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551133702	chr7:109759920-109759921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116040351	chr7:109759931-109759932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539621200	chr7:109759950-109759951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	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
Autism	19401682	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	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109756400-109766600	Weak transcription	Dnd41	blood
2	chr7:109758400-109760200	Enhancers	Brain Germinal Matrix	brain
3	chr7:109759400-109759600	Enhancers	Pancreas	Pancrea
4	chr7:109759600-109768000	Weak transcription	Pancreas	Pancrea
5	chr7:109759800-109760200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:109767800-109768400	Enhancers	H9 Cell Line	embryonic stem cell
7	chr7:109767800-109768600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr7:109768000-109768200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:109768000-109768200	Enhancers	Pancreas	Pancrea
10	chr7:109768000-109768400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr7:109770400-109770800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr7:109782800-109783400	Enhancers	Fetal Stomach	stomach
13	chr7:109788200-109789200	ZNF genes & repeats	Pancreas	Pancrea
14	chr7:109788200-109789600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:109788200-109789800	ZNF genes & repeats	Dnd41	blood
16	chr7:109789600-109797600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:109796600-109798600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr7:109796800-109797200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:109796800-109798000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr7:109797600-109797800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:109797600-109798000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr7:109797600-109798200	Enhancers	NHEK	skin
23	chr7:109797600-109798600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr7:109797600-109798600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr7:109797600-109799000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr7:109797800-109799000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr7:109798000-109798400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr7:109798000-109798600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr7:109798400-109799000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr7:109798600-109798800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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