Variant report

Variant	nsv1017888
Chromosome Location	chr6:49138124-49180527
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:49160449..49163379-chr6:49168376..49170816,2	K562	blood:
2	chr6:49165091..49165837-chr6:49377428..49378325,3	MCF-7	breast:
3	chr6:49068560..49071402-chr6:49178600..49180630,2	K562	blood:
4	chr6:49160449..49163379-chr6:49168376..49170816,2	K562	blood:

Extended variants
information (count: 823 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:823 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367885042	chr6:49138141-49138142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566165374	chr6:49138188-49138189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545746507	chr6:49138216-49138217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148493169	chr6:49138234-49138235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9473501	chr6:49138238-49138239	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs572607934	chr6:49138264-49138265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549449843	chr6:49138303-49138304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570364016	chr6:49138305-49138306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535096555	chr6:49138344-49138345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528441199	chr6:49138399-49138400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73431764	chr6:49138428-49138429	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs16878815	chr6:49138441-49138442	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs550503593	chr6:49138464-49138465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11299958	chr6:49138471-49138472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs397886032	chr6:49138472-49138473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79931957	chr6:49138492-49138493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs398048517	chr6:49138493-49138494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112865980	chr6:49138545-49138546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536042599	chr6:49138547-49138548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554341022	chr6:49138548-49138549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572913045	chr6:49138664-49138665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533686015	chr6:49138673-49138674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558507076	chr6:49138680-49138681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115776317	chr6:49138683-49138684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190755761	chr6:49138729-49138730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550708428	chr6:49138777-49138778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374136702	chr6:49138795-49138796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9369862	chr6:49138852-49138853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372277736	chr6:49138858-49138859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9395461	chr6:49138870-49138871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71568466	chr6:49138874-49138875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554915747	chr6:49138901-49138902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs72866892	chr6:49138902-49138903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79686214	chr6:49138911-49138912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62414400	chr6:49138913-49138914	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
36	rs140612023	chr6:49138927-49138928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543219634	chr6:49138955-49138956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561355929	chr6:49138960-49138961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371828687	chr6:49138975-49138976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528563825	chr6:49138981-49138982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546824727	chr6:49139006-49139007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565273283	chr6:49139023-49139024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532380770	chr6:49139029-49139030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541033281	chr6:49139046-49139047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181038792	chr6:49139050-49139051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536007818	chr6:49139096-49139097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6908044	chr6:49139123-49139124	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs112951621	chr6:49139133-49139134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544255553	chr6:49139154-49139155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558375341	chr6:49139160-49139161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49133000-49158400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:49170600-49171600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:49171600-49171800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:49176800-49177200	Enhancers	Fetal Brain Male	brain
5	chr6:49179600-49180000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:49179600-49180000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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