Variant report

Variant	nsv1029362
Chromosome Location	chr7:13679503-13733647
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:13726746..13728268-chr7:14029761..14031968,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARL4A-7	chr7:13710212-13710299	NONHSAT119248

Variant related genes	Relation type
ENSG00000006468	chromatin interactions

Extended variants
information (count: 1042 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1042 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17648986	chr7:13679503-13679504	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs375697719	chr7:13679505-13679506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147907381	chr7:13679529-13679530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114632701	chr7:13679559-13679560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561923283	chr7:13679592-13679593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568915721	chr7:13679719-13679720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527459475	chr7:13679775-13679776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182126429	chr7:13679782-13679783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547554741	chr7:13679789-13679790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11981860	chr7:13679840-13679841	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs186837210	chr7:13679863-13679864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539131408	chr7:13679865-13679866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552641936	chr7:13679882-13679883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10950484	chr7:13679898-13679899	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs11981893	chr7:13679931-13679932	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs116738113	chr7:13679935-13679936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534037819	chr7:13679952-13679953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553934675	chr7:13679976-13679977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs17167297	chr7:13679981-13679982	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs370631984	chr7:13679992-13679993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191713968	chr7:13679997-13679998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567695788	chr7:13680030-13680031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79184139	chr7:13680064-13680065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10499431	chr7:13680095-13680096	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs545484425	chr7:13680108-13680109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181282531	chr7:13680114-13680115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374852744	chr7:13680138-13680139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139343773	chr7:13680140-13680141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185533227	chr7:13680157-13680158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190006760	chr7:13680181-13680182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74842561	chr7:13680184-13680185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs80246968	chr7:13680209-13680210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564261869	chr7:13680212-13680213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs17649154	chr7:13680235-13680236	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs111915499	chr7:13680265-13680266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78816014	chr7:13680271-13680272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75386997	chr7:13680274-13680275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548549331	chr7:13680334-13680335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150029704	chr7:13680343-13680344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534505595	chr7:13680367-13680368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553986360	chr7:13680378-13680379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12673412	chr7:13680384-13680385	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs571053121	chr7:13680391-13680392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377486760	chr7:13680416-13680417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555813562	chr7:13680457-13680458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10499432	chr7:13680458-13680459	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs12539609	chr7:13680524-13680525	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs74928991	chr7:13680531-13680532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572289513	chr7:13680547-13680548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73273417	chr7:13680548-13680549	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cancer	17440070	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13669000-13681400	Weak transcription	NHDF-Ad	bronchial
2	chr7:13679600-13681400	Weak transcription	Fetal Lung	lung
3	chr7:13681000-13681800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr7:13681400-13681600	Enhancers	NHDF-Ad	bronchial
5	chr7:13681400-13681800	Enhancers	Fetal Lung	lung
6	chr7:13681400-13682000	Enhancers	Osteobl	bone
7	chr7:13681600-13682400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr7:13687800-13688200	Enhancers	H9 Cell Line	embryonic stem cell
9	chr7:13687800-13688600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:13688000-13688400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr7:13688000-13688400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:13688000-13688600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr7:13688200-13688600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr7:13688600-13697600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr7:13696200-13697800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr7:13696200-13698000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:13697600-13698200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
18	chr7:13712600-13714800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:13713000-13713200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:13713000-13713200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:13713200-13717600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:13713200-13719000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:13717200-13718200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
24	chr7:13717600-13718000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:13720800-13721400	Enhancers	Primary neutrophils fromperipheralblood	blood

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