Variant report

Variant	nsv830657
Chromosome Location	chr6:48387714-48566656
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:48423020..48424533-chr6:48424939..48426679,2	K562	blood:
2	chr6:48478738..48480605-chr6:48482377..48484085,2	MCF-7	breast:
3	chr6:48423020..48424533-chr6:48424939..48426679,2	K562	blood:
4	chr6:48499583..48501094-chr6:48503613..48505282,2	MCF-7	breast:
5	chr6:48399326..48401875-chr6:48414360..48417235,2	K562	blood:
6	chr6:48477659..48480507-chr6:48480659..48483377,2	K562	blood:
7	chr6:48492592..48495005-chr6:48502710..48504225,2	K562	blood:
8	chr21:46994360..46994929-chr6:48558172..48558942,2	MCF-7	breast:
9	chr6:48442637..48444908-chr6:48734005..48735612,2	MCF-7	breast:
10	chr6:48492592..48495005-chr6:48502710..48504225,2	K562	blood:
11	chr6:48399326..48401875-chr6:48414360..48417235,2	K562	blood:
12	chr6:48477659..48480507-chr6:48480659..48483377,2	K562	blood:
13	chr6:48499583..48501094-chr6:48503613..48505282,2	MCF-7	breast:
14	chr6:48478738..48480605-chr6:48482377..48484085,2	MCF-7	breast:

No data

Extended variants
information (count: 3578 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:3578 , 50 per page) page: 1 2 3 4 5 6 7 ... 72

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527623681	chr6:48387716-48387717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs17289560	chr6:48387724-48387725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570399001	chr6:48387747-48387748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537540140	chr6:48387783-48387784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150645331	chr6:48387817-48387818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569063189	chr6:48387861-48387862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140891541	chr6:48387872-48387873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530138523	chr6:48387897-48387898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554933128	chr6:48387945-48387946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573469369	chr6:48387961-48387962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540600172	chr6:48387993-48387994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147517449	chr6:48390626-48390627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148581408	chr6:48390627-48390628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533161410	chr6:48390651-48390652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114563344	chr6:48390660-48390661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569795864	chr6:48390668-48390669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141979657	chr6:48390678-48390679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555266516	chr6:48390680-48390681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535264701	chr6:48390687-48390688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567493096	chr6:48390689-48390690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34088438	chr6:48390735-48390736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542932507	chr6:48390784-48390785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534572412	chr6:48390810-48390811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182007653	chr6:48390811-48390812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553235226	chr6:48390816-48390817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577537765	chr6:48390855-48390856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184474069	chr6:48390875-48390876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568756856	chr6:48390877-48390878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537298269	chr6:48390914-48390915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557030322	chr6:48390947-48390948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368129273	chr6:48390982-48390983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556924195	chr6:48390999-48391000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562134958	chr6:48391000-48391001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570152336	chr6:48391005-48391006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4382256	chr6:48391006-48391007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574188308	chr6:48391048-48391049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150697949	chr6:48391069-48391070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189136164	chr6:48391089-48391090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139437045	chr6:48391125-48391126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551338065	chr6:48391197-48391198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563387690	chr6:48391231-48391232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs202062041	chr6:48391272-48391273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530901221	chr6:48391275-48391276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369068824	chr6:48391325-48391326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372617597	chr6:48391390-48391391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149668261	chr6:48391410-48391411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534840513	chr6:48391494-48391495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146693060	chr6:48391536-48391537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181165600	chr6:48391537-48391538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs74535662	chr6:48391633-48391634	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48387600-48388000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:48387800-48388000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr6:48390600-48394400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:48391400-48392400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:48391400-48394200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr6:48391600-48392200	Enhancers	Osteobl	bone
7	chr6:48391800-48392200	Enhancers	NH-A	brain
8	chr6:48392200-48394400	Weak transcription	Osteobl	bone
9	chr6:48392200-48396800	Weak transcription	NH-A	brain
10	chr6:48392400-48392600	Enhancers	HSMM	muscle
11	chr6:48392400-48392600	Enhancers	NHDF-Ad	bronchial
12	chr6:48392400-48393800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:48392600-48392800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:48392800-48393800	Weak transcription	HSMM	muscle
15	chr6:48392800-48393800	Weak transcription	NHDF-Ad	bronchial
16	chr6:48392800-48394200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:48393200-48393600	Enhancers	NHEK	skin
18	chr6:48393200-48394800	Enhancers	HUVEC	blood vessel
19	chr6:48393200-48395600	Enhancers	HMEC	breast
20	chr6:48393200-48398800	Enhancers	NHLF	lung
21	chr6:48393600-48394000	Weak transcription	NHEK	skin
22	chr6:48393800-48394000	Enhancers	NHDF-Ad	bronchial
23	chr6:48393800-48395200	Enhancers	HSMM	muscle
24	chr6:48393800-48395400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:48393800-48398800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:48393800-48399000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:48394000-48394800	Weak transcription	NHDF-Ad	bronchial
28	chr6:48394000-48394800	Enhancers	NHEK	skin
29	chr6:48394000-48395600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:48394200-48395000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr6:48394200-48395600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:48394200-48395800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:48394400-48394800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:48394400-48395200	Enhancers	Osteobl	bone
35	chr6:48394400-48395800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:48394600-48394800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:48394800-48395200	Enhancers	NHDF-Ad	bronchial
38	chr6:48394800-48396800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr6:48394800-48396800	Weak transcription	NHEK	skin
40	chr6:48394800-48397000	Weak transcription	HUVEC	blood vessel
41	chr6:48394800-48397200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:48395000-48399000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr6:48395200-48396400	Weak transcription	Osteobl	bone
44	chr6:48395200-48396600	Weak transcription	HSMM	muscle
45	chr6:48395200-48398400	Weak transcription	NHDF-Ad	bronchial
46	chr6:48395400-48395600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr6:48395400-48395600	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr6:48395400-48398200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr6:48395600-48396400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:48395600-48396600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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