Variant report

Variant	nsv527413
Chromosome Location	chr7:83698177-83699733
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2527031	chr7:83698177-83698178	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs183382168	chr7:83698219-83698220	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542739197	chr7:83698276-83698277	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560991735	chr7:83698379-83698380	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573055944	chr7:83698451-83698452	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540385751	chr7:83698457-83698458	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187093094	chr7:83698490-83698491	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549923036	chr7:83698538-83698539	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569601361	chr7:83698604-83698605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557661921	chr7:83698608-83698609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs17158561	chr7:83698656-83698657	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs146049653	chr7:83698721-83698722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369159680	chr7:83698729-83698730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562535797	chr7:83698783-83698784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530083359	chr7:83698788-83698789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191149067	chr7:83698799-83698800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566659080	chr7:83698817-83698818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35291070	chr7:83698822-83698823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565664805	chr7:83698858-83698859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140016111	chr7:83698862-83698863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552691485	chr7:83698869-83698870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs367728093	chr7:83698887-83698888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183655432	chr7:83698897-83698898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538520253	chr7:83698942-83698943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556940995	chr7:83698955-83698956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534250664	chr7:83698966-83698967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10638305	chr7:83699045-83699046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs3839785	chr7:83699046-83699047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575289143	chr7:83699047-83699048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112548275	chr7:83699048-83699049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs397822947	chr7:83699049-83699050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368387312	chr7:83699050-83699051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs372386471	chr7:83699051-83699052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536284700	chr7:83699059-83699060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554618337	chr7:83699071-83699072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573914854	chr7:83699087-83699088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572869758	chr7:83699120-83699121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73378827	chr7:83699126-83699127	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs17158564	chr7:83699172-83699173	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs577006043	chr7:83699225-83699226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111326666	chr7:83699232-83699233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556621759	chr7:83699256-83699257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530022211	chr7:83699322-83699323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548144593	chr7:83699366-83699367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560117179	chr7:83699377-83699378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370013667	chr7:83699416-83699417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs57150653	chr7:83699450-83699451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs397949622	chr7:83699451-83699452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146813811	chr7:83699467-83699468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs113115861	chr7:83699484-83699485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83673800-83707600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:83689800-83714400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:83690600-83714600	Weak transcription	NHDF-Ad	bronchial
4	chr7:83690800-83702800	Weak transcription	NHLF	lung
5	chr7:83691400-83703000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:83692000-83702600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:83692200-83714600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:83697800-83698200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr7:83697800-83698200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
10	chr7:83697800-83698400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:83697800-83698600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:83698000-83698600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr7:83698000-83698600	Enhancers	NHEK	skin
14	chr7:83698000-83699400	Enhancers	Fetal Heart	heart
15	chr7:83698200-83698800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:83698200-83701000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr7:83698200-83707600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:83698400-83708200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:83698600-83698800	Enhancers	Adipose Nuclei	Adipose
20	chr7:83698600-83710400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:83698600-83715400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr7:83698800-83700000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:83699000-83700000	Weak transcription	Adipose Nuclei	Adipose
24	chr7:83699400-83700400	Weak transcription	Fetal Heart	heart
25	chr7:83699400-83700600	Enhancers	Dnd41	blood

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