Variant report

Variant	nsv5292
Chromosome Location	chr6:48837853-48884078
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1982 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1982 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11961380	chr6:48837864-48837865	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs147203915	chr6:48837884-48837885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560566862	chr6:48837931-48837932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185700706	chr6:48837956-48837957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140609187	chr6:48837974-48837975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552741448	chr6:48837981-48837982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144470022	chr6:48838035-48838036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11966759	chr6:48838079-48838080	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs556617521	chr6:48838133-48838134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542985846	chr6:48838137-48838138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77660667	chr6:48838153-48838154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6907951	chr6:48838198-48838199	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs148708391	chr6:48838206-48838207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532013467	chr6:48838223-48838224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190557037	chr6:48838226-48838227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559525585	chr6:48838239-48838240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533347831	chr6:48838242-48838243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574562271	chr6:48838243-48838244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551931368	chr6:48838254-48838255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563793473	chr6:48838273-48838274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551408067	chr6:48838276-48838277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571216201	chr6:48838290-48838291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12205761	chr6:48838308-48838309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs142230680	chr6:48838310-48838311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142284491	chr6:48838337-48838338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534652135	chr6:48838353-48838354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546857066	chr6:48838365-48838366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547460716	chr6:48838373-48838374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79146406	chr6:48838389-48838390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6908335	chr6:48838409-48838410	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs186258159	chr6:48838421-48838422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536427421	chr6:48838459-48838460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34287974	chr6:48838485-48838486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549538703	chr6:48838620-48838621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568621930	chr6:48838622-48838623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536300329	chr6:48838627-48838628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555733374	chr6:48838628-48838629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574165563	chr6:48838675-48838676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576921608	chr6:48838680-48838681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191548373	chr6:48838685-48838686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553678816	chr6:48838730-48838731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141410021	chr6:48838741-48838742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12192645	chr6:48838767-48838768	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs186979969	chr6:48838768-48838769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4576245	chr6:48838855-48838856	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs530910766	chr6:48838901-48838902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192370133	chr6:48838910-48838911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183409138	chr6:48838937-48838938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199597145	chr6:48838941-48838942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528269617	chr6:48838965-48838966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48832200-48944000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:48850600-48851200	Enhancers	HUVEC	blood vessel
3	chr6:48850800-48851200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:48850800-48851200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:48851200-48852600	Weak transcription	HUVEC	blood vessel
6	chr6:48852600-48853600	Enhancers	HUVEC	blood vessel
7	chr6:48853200-48853600	Enhancers	Primary hematopoietic stem cells	blood
8	chr6:48861000-48861400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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