Variant report

Variant	nsv436516
Chromosome Location	chr6:56754861-56761823
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 182 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:182 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575746262	chr6:56754886-56754887	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143720035	chr6:56754912-56754913	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564479422	chr6:56754935-56754936	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528741998	chr6:56754973-56754974	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569445217	chr6:56754982-56754983	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550045754	chr6:56755005-56755006	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190738858	chr6:56755047-56755048	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558891612	chr6:56755079-56755080	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544575874	chr6:56755098-56755099	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529753442	chr6:56755122-56755123	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548230754	chr6:56755147-56755148	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564553483	chr6:56755202-56755203	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535841170	chr6:56755241-56755242	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569890633	chr6:56755300-56755301	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116568851	chr6:56755302-56755303	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552079328	chr6:56755357-56755358	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs199838188	chr6:56755373-56755374	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570795940	chr6:56755410-56755411	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73459708	chr6:56755536-56755537	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs553426175	chr6:56755547-56755548	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568423529	chr6:56755567-56755568	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150597473	chr6:56755625-56755626	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183101588	chr6:56755630-56755631	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575639346	chr6:56755642-56755643	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540056145	chr6:56755701-56755702	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557906926	chr6:56755747-56755748	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573220609	chr6:56755754-56755755	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540487435	chr6:56755763-56755764	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538098986	chr6:56755773-56755774	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187392512	chr6:56755820-56755821	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377402926	chr6:56756013-56756014	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541458788	chr6:56756026-56756027	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563439492	chr6:56756135-56756136	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530507759	chr6:56756184-56756185	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139450367	chr6:56756226-56756227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372009405	chr6:56756234-56756235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191070905	chr6:56756278-56756279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546868713	chr6:56756289-56756290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183866426	chr6:56756291-56756292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187767619	chr6:56756301-56756302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550683578	chr6:56756306-56756307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149250086	chr6:56756317-56756318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192683447	chr6:56756328-56756329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs557942120	chr6:56756359-56756360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs111630524	chr6:56756361-56756362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563762381	chr6:56756364-56756365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567157454	chr6:56756366-56756367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564052047	chr6:56756384-56756385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531964301	chr6:56756385-56756386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573058327	chr6:56756447-56756448	Weak transcription 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
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
lymphocytic leukemia	21291569	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56734200-56755400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:56734600-56755400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:56736400-56755800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:56749200-56769600	Weak transcription	Brain Angular Gyrus	brain
5	chr6:56752400-56767000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr6:56752600-56755000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr6:56753000-56755600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:56753200-56755000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:56753200-56756200	Enhancers	HUVEC	blood vessel
10	chr6:56753600-56757600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:56753600-56769600	Weak transcription	Brain Hippocampus Middle	brain
12	chr6:56753800-56755200	Enhancers	Fetal Kidney	kidney
13	chr6:56753800-56755600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:56753800-56755800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:56753800-56757400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:56753800-56757600	Enhancers	NHDF-Ad	bronchial
17	chr6:56754000-56755000	Enhancers	Primary T cells from cord blood	blood
18	chr6:56754000-56755000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr6:56754000-56755000	Weak transcription	HMEC	breast
20	chr6:56754200-56755000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr6:56754200-56755200	Flanking Active TSS	A549	lung
22	chr6:56754200-56755200	Flanking Active TSS	GM12878-XiMat	blood
23	chr6:56754200-56756800	Enhancers	HSMMtube	muscle
24	chr6:56754200-56757000	Enhancers	NHLF	lung
25	chr6:56754200-56757400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:56754400-56755600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr6:56754400-56755800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:56754400-56756200	Enhancers	HepG2	liver
29	chr6:56754400-56757000	Enhancers	Osteobl	bone
30	chr6:56754600-56755000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:56754600-56755600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:56754600-56756400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:56754600-56757200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr6:56754800-56755600	Enhancers	NH-A	brain
35	chr6:56754800-56756000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr6:56754800-56756200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr6:56754800-56756200	Genic enhancers	HSMM	muscle
38	chr6:56754800-56756800	Enhancers	K562	blood
39	chr6:56755000-56755200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:56755000-56755200	Enhancers	Brain Anterior Caudate	brain
41	chr6:56755000-56755400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr6:56755000-56755800	Weak transcription	Primary T cells from cord blood	blood
43	chr6:56755000-56756000	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr6:56755000-56756000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr6:56755000-56756000	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr6:56755000-56756200	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr6:56755000-56756200	Enhancers	Colon Smooth Muscle	Colon
48	chr6:56755000-56756200	Enhancers	HMEC	breast
49	chr6:56755200-56755600	Enhancers	A549	lung
50	chr6:56755200-56755600	Enhancers	GM12878-XiMat	blood

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