Variant report

Variant	nsv603036
Chromosome Location	chr6:48601723-48711041
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:48677900..48680062-chr6:48689263..48690810,2	K562	blood:
2	chr6:48657062..48659892-chr6:48684168..48687063,2	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: 2351 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:2351 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534679423	chr6:48606626-48606627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181232520	chr6:48606652-48606653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9395386	chr6:48606661-48606662	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs3010523	chr6:48606673-48606674	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs558071268	chr6:48606701-48606702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576287049	chr6:48606723-48606724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543720837	chr6:48606725-48606726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145505831	chr6:48606736-48606737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573722834	chr6:48606784-48606785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112628296	chr6:48606805-48606806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186474729	chr6:48606830-48606831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75897503	chr6:48606848-48606849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546225611	chr6:48606888-48606889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74948116	chr6:48606892-48606893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532982993	chr6:48606914-48606915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531702306	chr6:48606915-48606916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141079593	chr6:48606938-48606939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530793803	chr6:48606951-48606952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191024667	chr6:48606952-48606953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111527184	chr6:48606967-48606968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181043045	chr6:48606995-48606996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534530919	chr6:48607047-48607048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527299069	chr6:48607055-48607056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150280765	chr6:48607072-48607073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554012219	chr6:48607087-48607088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546368851	chr6:48607089-48607090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571273147	chr6:48607094-48607095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187231562	chr6:48607096-48607097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547422684	chr6:48607107-48607108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558296347	chr6:48607134-48607135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569936462	chr6:48607136-48607137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145450517	chr6:48607149-48607150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191049131	chr6:48607178-48607179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562856887	chr6:48607183-48607184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560673068	chr6:48607193-48607194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182937290	chr6:48607237-48607238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs578017195	chr6:48607238-48607239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12191801	chr6:48607257-48607258	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs535874817	chr6:48607301-48607302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187575214	chr6:48607324-48607325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190777042	chr6:48607365-48607366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs3010522	chr6:48607381-48607382	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs370025060	chr6:48607394-48607395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183258108	chr6:48607425-48607426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528378984	chr6:48607451-48607452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188136542	chr6:48607503-48607504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576470518	chr6:48607526-48607527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372403451	chr6:48607548-48607549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs3010521	chr6:48607583-48607584	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs192555721	chr6:48607605-48607606	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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48606600-48607200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr6:48606800-48607200	Enhancers	NH-A	brain
3	chr6:48607200-48609000	Weak transcription	NH-A	brain
4	chr6:48609000-48609800	Enhancers	NH-A	brain
5	chr6:48609200-48610800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:48610800-48611600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:48618800-48619000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:48619000-48624200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:48620200-48621400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:48621400-48625800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:48624200-48625000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:48624600-48626800	Weak transcription	NHEK	skin
13	chr6:48625000-48626600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:48625800-48626000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:48626600-48627200	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr6:48626800-48627000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:48626800-48627200	Enhancers	NHEK	skin
18	chr6:48627200-48632400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr6:48632400-48633000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:48632400-48633600	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr6:48633600-48634600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr6:48634600-48636200	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr6:48638200-48639600	Enhancers	HMEC	breast
24	chr6:48639000-48639200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
25	chr6:48639000-48639400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:48639200-48639400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
27	chr6:48639200-48639600	Enhancers	Hela-S3	cervix
28	chr6:48639400-48639600	Bivalent Enhancer	Left Ventricle	heart
29	chr6:48641200-48641400	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr6:48641400-48642200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr6:48642200-48643200	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr6:48643000-48643600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:48643200-48643800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr6:48643600-48644000	Enhancers	Fetal Brain Female	brain
35	chr6:48643800-48644000	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr6:48644000-48645600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr6:48645600-48646200	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr6:48654600-48654800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:48664800-48666000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:48665200-48665600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:48665200-48665800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:48669200-48669600	Enhancers	Placenta	Placenta
43	chr6:48669200-48669800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr6:48669200-48669800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr6:48681400-48682200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:48681400-48682400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:48681400-48682600	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr6:48681400-48682800	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr6:48681800-48682200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr6:48681800-48682800	Enhancers	Brain Germinal Matrix	brain

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