Variant report

Variant	nsv885879
Chromosome Location	chr6:48634956-48730669
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:48657062..48659892-chr6:48684168..48687063,2	K562	blood:
2	chr6:48677900..48680062-chr6:48689263..48690810,2	K562	blood:
3	chr6:48657062..48659892-chr6:48684168..48687063,2	K562	blood:
4	chr6:48677900..48680062-chr6:48689263..48690810,2	K562	blood:

Extended variants
information (count: 2137 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:2137 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2474481	chr6:48634956-48634957	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs34962634	chr6:48634968-48634969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144176966	chr6:48635000-48635001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574340762	chr6:48635007-48635008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563808029	chr6:48635009-48635010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146551563	chr6:48635012-48635013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527560116	chr6:48635027-48635028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186038646	chr6:48635168-48635169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564035558	chr6:48635187-48635188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531443332	chr6:48635256-48635257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs171453	chr6:48635267-48635268	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs371852867	chr6:48635268-48635269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563530682	chr6:48635302-48635303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530268681	chr6:48635305-48635306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548745835	chr6:48635342-48635343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567075718	chr6:48635348-48635349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534474836	chr6:48635379-48635380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs171452	chr6:48635424-48635425	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs570468091	chr6:48635437-48635438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190748260	chr6:48635460-48635461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182671209	chr6:48635493-48635494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188148652	chr6:48635495-48635496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192573967	chr6:48635513-48635514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182594546	chr6:48635604-48635605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188952168	chr6:48635618-48635619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559744902	chr6:48635664-48635665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546078438	chr6:48635670-48635671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564074224	chr6:48635728-48635729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576152268	chr6:48635844-48635845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192424059	chr6:48635853-48635854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561797176	chr6:48635875-48635876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141291014	chr6:48635892-48635893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs367653548	chr6:48635986-48635987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73482504	chr6:48636001-48636002	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs78097061	chr6:48636004-48636005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527981692	chr6:48636161-48636162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548413592	chr6:48636190-48636191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534581845	chr6:48638218-48638219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183075646	chr6:48638243-48638244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76525887	chr6:48638327-48638328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538244736	chr6:48638334-48638335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4314489	chr6:48638338-48638339	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs9381684	chr6:48638362-48638363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574977426	chr6:48638380-48638381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562153683	chr6:48638392-48638393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186326112	chr6:48638528-48638529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs367828515	chr6:48638538-48638539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142594765	chr6:48638552-48638553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574288515	chr6:48638610-48638611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191280034	chr6:48638643-48638644	Enhancers	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:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48634600-48636200	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr6:48638200-48639600	Enhancers	HMEC	breast
3	chr6:48639000-48639200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
4	chr6:48639000-48639400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:48639200-48639400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
6	chr6:48639200-48639600	Enhancers	Hela-S3	cervix
7	chr6:48639400-48639600	Bivalent Enhancer	Left Ventricle	heart
8	chr6:48641200-48641400	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr6:48641400-48642200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:48642200-48643200	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr6:48643000-48643600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:48643200-48643800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr6:48643600-48644000	Enhancers	Fetal Brain Female	brain
14	chr6:48643800-48644000	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr6:48644000-48645600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr6:48645600-48646200	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr6:48654600-48654800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:48664800-48666000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:48665200-48665600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:48665200-48665800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:48669200-48669600	Enhancers	Placenta	Placenta
22	chr6:48669200-48669800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:48669200-48669800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr6:48681400-48682200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:48681400-48682400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:48681400-48682600	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr6:48681400-48682800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr6:48681800-48682200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr6:48681800-48682800	Enhancers	Brain Germinal Matrix	brain
30	chr6:48682200-48683400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:48683600-48683800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:48687400-48687600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:48687600-48715000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:48700600-48703400	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr6:48701000-48701600	Enhancers	Osteobl	bone
36	chr6:48701000-48701800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:48701000-48701800	Enhancers	Muscle Satellite Cultured Cells	--
38	chr6:48701000-48701800	Enhancers	Hela-S3	cervix
39	chr6:48701200-48701400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:48701600-48703400	Weak transcription	Osteobl	bone
41	chr6:48701800-48702000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:48701800-48703000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:48701800-48703600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr6:48701800-48705000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr6:48702000-48702600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:48702600-48705200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:48702800-48704000	Enhancers	NHLF	lung
48	chr6:48703000-48703800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:48703000-48705400	Enhancers	Fetal Brain Male	brain
50	chr6:48703400-48703600	Enhancers	Pancreatic Islets	Pancreatic Islet

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