Variant report

Variant	nsv1026626
Chromosome Location	chr6:54506752-54531961
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 483 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:483 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541689	chr6:54506752-54506753	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543012536	chr6:54506754-54506755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183717860	chr6:54506776-54506777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187864754	chr6:54506800-54506801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191224224	chr6:54506825-54506826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559572958	chr6:54506831-54506832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs608873	chr6:54506838-54506839	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs542639	chr6:54506876-54506877	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs564376834	chr6:54506883-54506884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528935798	chr6:54506885-54506886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538701080	chr6:54506891-54506892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71936124	chr6:54506892-54506893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146437881	chr6:54506902-54506903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs70983441	chr6:54506911-54506912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571443020	chr6:54506930-54506931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78723680	chr6:54506964-54506965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529519181	chr6:54506999-54507000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549197658	chr6:54507026-54507027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565957145	chr6:54507029-54507030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534861348	chr6:54507052-54507053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115484488	chr6:54507068-54507069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571247454	chr6:54507077-54507078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148608164	chr6:54507084-54507085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556663309	chr6:54507160-54507161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142229876	chr6:54507211-54507212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182200234	chr6:54507265-54507266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547833781	chr6:54507269-54507270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553275446	chr6:54507308-54507309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377266179	chr6:54507311-54507312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573078110	chr6:54507317-54507318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544834760	chr6:54507319-54507320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564643625	chr6:54507324-54507325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368529211	chr6:54507342-54507343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9464115	chr6:54507386-54507387	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs115509498	chr6:54507430-54507431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576368273	chr6:54507441-54507442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529213468	chr6:54507448-54507449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549271394	chr6:54507465-54507466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559580409	chr6:54507474-54507475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528726104	chr6:54507511-54507512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs116951360	chr6:54507516-54507517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543191399	chr6:54507534-54507535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186936450	chr6:54507559-54507560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12529275	chr6:54507588-54507589	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs9474942	chr6:54507616-54507617	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs550662547	chr6:54507647-54507648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs151215345	chr6:54507653-54507654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9474943	chr6:54507683-54507684	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs553312208	chr6:54507742-54507743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574784016	chr6:54507752-54507753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
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
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	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
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54505800-54506800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr6:54506800-54507000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:54506800-54509400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:54507000-54511800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:54507400-54507600	Enhancers	Aorta	Aorta
6	chr6:54507600-54509600	Weak transcription	Aorta	Aorta
7	chr6:54509400-54510400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:54509600-54510400	Enhancers	Aorta	Aorta
9	chr6:54509600-54510800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:54509600-54512400	Enhancers	Colon Smooth Muscle	Colon
11	chr6:54510200-54511000	Enhancers	Osteobl	bone
12	chr6:54510400-54511400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:54510400-54511600	Weak transcription	Aorta	Aorta
14	chr6:54510400-54512200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:54510800-54511400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:54511000-54511600	Weak transcription	Osteobl	bone
17	chr6:54511000-54511800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:54511400-54511800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:54511400-54512600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:54511600-54511800	Enhancers	Osteobl	bone
21	chr6:54511600-54512200	Enhancers	Brain Anterior Caudate	brain
22	chr6:54511600-54512400	Enhancers	Aorta	Aorta
23	chr6:54511600-54513000	Enhancers	HUVEC	blood vessel
24	chr6:54511800-54512000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:54511800-54512200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:54511800-54512200	Flanking Active TSS	Osteobl	bone
27	chr6:54512200-54512600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:54512600-54513600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:54513600-54513800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:54519000-54521200	Enhancers	Fetal Intestine Small	intestine
31	chr6:54519400-54520400	Enhancers	Fetal Kidney	kidney
32	chr6:54520000-54520400	Enhancers	Fetal Intestine Large	intestine
33	chr6:54520000-54520400	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr6:54520400-54520600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr6:54520400-54520800	Weak transcription	Fetal Intestine Large	intestine
36	chr6:54520600-54521000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr6:54520800-54521400	Enhancers	Fetal Intestine Large	intestine
38	chr6:54521000-54521200	Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr6:54529000-54531400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:54529000-54531400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:54529200-54530000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:54529400-54530600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr6:54530000-54530400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:54530000-54530400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:54530000-54530600	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr6:54530200-54530600	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr6:54530200-54530600	Enhancers	Fetal Intestine Small	intestine
48	chr6:54530400-54530600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:54530400-54531200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:54530600-54532400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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