Variant report

Variant	nsv1033717
Chromosome Location	chr6:48747810-48775237
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	chr6:48763845..48766663-chr6:48768230..48770972,2	K562	blood:
2	chr6:48763845..48766663-chr6:48768230..48770972,2	K562	blood:

Extended variants
information (count: 258 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538066021	chr6:48747893-48747894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114125525	chr6:48747899-48747900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114961513	chr6:48747923-48747924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537980040	chr6:48747960-48747961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144965374	chr6:48747979-48747980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74656000	chr6:48748011-48748012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577799392	chr6:48748043-48748044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555256774	chr6:48748058-48748059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147959248	chr6:48748100-48748101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141074119	chr6:48748115-48748116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143455391	chr6:48748134-48748135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534260658	chr6:48748136-48748137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576820614	chr6:48748165-48748166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181080890	chr6:48748195-48748196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554443976	chr6:48748198-48748199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562796037	chr6:48748207-48748208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529922323	chr6:48748216-48748217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147997845	chr6:48748281-48748282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560279727	chr6:48748288-48748289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62410744	chr6:48748320-48748321	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs552490163	chr6:48748336-48748337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542566004	chr6:48748368-48748369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531285379	chr6:48748374-48748375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549922787	chr6:48748379-48748380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568027153	chr6:48748392-48748393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535515762	chr6:48748439-48748440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140793965	chr6:48748464-48748465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567054119	chr6:48748508-48748509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534264542	chr6:48748548-48748549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558787200	chr6:48748574-48748575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150134290	chr6:48748600-48748601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537820918	chr6:48748615-48748616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73486468	chr6:48748623-48748624	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs138722045	chr6:48748638-48748639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113479517	chr6:48748653-48748654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141843966	chr6:48748659-48748660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531651718	chr6:48748673-48748674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72869088	chr6:48748709-48748710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546121579	chr6:48748757-48748758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576175171	chr6:48748760-48748761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545101876	chr6:48748782-48748783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564343738	chr6:48748803-48748804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145519381	chr6:48748809-48748810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375271172	chr6:48748837-48748838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114269234	chr6:48748838-48748839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35206250	chr6:48748883-48748884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561699915	chr6:48748923-48748924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186374370	chr6:48748928-48748929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566059895	chr6:48748952-48748953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547462778	chr6:48748956-48748957	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48746000-48752600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:48750000-48750200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:48750200-48751400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:48759600-48760000	Enhancers	Fetal Lung	lung
5	chr6:48771000-48771400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:48771800-48772600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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