Variant report

Variant	nsv819041
Chromosome Location	chr6:55935517-55938758
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	chr6:55932576..55934705-chr6:55937943..55940116,3	K562	blood:

Extended variants
information (count: 99 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373937908	chr6:55935546-55935547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549563792	chr6:55935555-55935556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199910287	chr6:55935556-55935557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200999181	chr6:55935568-55935569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs41271338	chr6:55935617-55935618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548567986	chr6:55935628-55935629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs41271340	chr6:55935629-55935630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372228471	chr6:55935641-55935642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556960404	chr6:55935682-55935683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570931607	chr6:55935686-55935687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77025002	chr6:55935694-55935695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142852876	chr6:55935709-55935710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192319656	chr6:55935710-55935711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185012911	chr6:55935719-55935720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370664511	chr6:55935771-55935772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1028390	chr6:55935791-55935792	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs62406154	chr6:55935856-55935857	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs146553405	chr6:55935878-55935879	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7450492	chr6:55935891-55935892	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs190650459	chr6:55935904-55935905	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543593836	chr6:55935917-55935918	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1016719	chr6:55935935-55935936	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs528961859	chr6:55936008-55936009	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28452747	chr6:55936033-55936034	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs181967248	chr6:55936036-55936037	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528002144	chr6:55936111-55936112	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12207120	chr6:55936134-55936135	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs532126117	chr6:55936160-55936161	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141165652	chr6:55936162-55936163	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143908354	chr6:55936176-55936177	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77220284	chr6:55936228-55936229	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs3950155	chr6:55936254-55936255	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs538664045	chr6:55936271-55936272	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146874611	chr6:55936273-55936274	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558148864	chr6:55936301-55936302	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140688454	chr6:55936306-55936307	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571956331	chr6:55936398-55936399	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557807555	chr6:55936444-55936445	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377434481	chr6:55936522-55936523	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187298470	chr6:55936538-55936539	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543280496	chr6:55936619-55936620	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188260993	chr6:55936644-55936645	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534121815	chr6:55936682-55936683	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150450684	chr6:55936698-55936699	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs180823388	chr6:55936727-55936728	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554416063	chr6:55936739-55936740	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528334212	chr6:55936740-55936741	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185625443	chr6:55936783-55936784	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189940198	chr6:55936849-55936850	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115995378	chr6:55936857-55936858	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55911800-55940800	Weak transcription	Left Ventricle	heart
2	chr6:55920600-56018400	Weak transcription	Ovary	ovary
3	chr6:55922600-55940800	Weak transcription	Fetal Muscle Leg	muscle
4	chr6:55925600-55946200	Weak transcription	Fetal Kidney	kidney
5	chr6:55929000-55956200	Weak transcription	Aorta	Aorta
6	chr6:55929400-55941400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr6:55931000-55935800	Weak transcription	Fetal Lung	lung
8	chr6:55931000-55937200	Weak transcription	Fetal Heart	heart
9	chr6:55931200-55937200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:55933200-55961000	Weak transcription	Placenta	Placenta
11	chr6:55934000-55940000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr6:55935800-55937200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:55935800-55938400	Strong transcription	Fetal Lung	lung
14	chr6:55937200-55937600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:55937200-55938000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:55937200-55938000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:55937200-55938200	Strong transcription	Fetal Heart	heart
18	chr6:55937200-55939200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr6:55937400-55938000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:55937400-55939200	Enhancers	Osteobl	bone
21	chr6:55937600-55938000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:55937800-55938800	Enhancers	NHDF-Ad	bronchial
23	chr6:55937800-55941000	Weak transcription	Psoas Muscle	Psoas
24	chr6:55938000-55938200	Enhancers	Right Ventricle	heart
25	chr6:55938000-55938400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:55938000-55938400	Enhancers	HSMMtube	muscle
27	chr6:55938000-55938600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:55938000-55938600	Enhancers	Adipose Nuclei	Adipose
29	chr6:55938000-55938800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:55938000-55938800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:55938000-55938800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:55938000-55938800	Enhancers	HSMM	muscle
33	chr6:55938200-55941600	Weak transcription	Fetal Heart	heart
34	chr6:55938400-55938600	Weak transcription	HSMMtube	muscle
35	chr6:55938400-55940200	Weak transcription	Fetal Lung	lung
36	chr6:55938600-55939000	Enhancers	HSMMtube	muscle
37	chr6:55938600-55939400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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