Variant report

Variant	esv3523169
Chromosome Location	chr6:56757317-56762458
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 134 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575090339	chr6:56757326-56757327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545811660	chr6:56757378-56757379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554281920	chr6:56757387-56757388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572958438	chr6:56757415-56757416	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540460203	chr6:56757429-56757430	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561701060	chr6:56757441-56757442	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529200379	chr6:56757488-56757489	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544136140	chr6:56757507-56757508	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562901784	chr6:56757509-56757510	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375147865	chr6:56757512-56757513	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574473823	chr6:56757561-56757562	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551354488	chr6:56757577-56757578	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566661236	chr6:56757595-56757596	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75198374	chr6:56757623-56757624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549576747	chr6:56757633-56757634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188792695	chr6:56757660-56757661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182150162	chr6:56757710-56757711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139724614	chr6:56757744-56757745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185684781	chr6:56757771-56757772	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35260382	chr6:56757855-56757856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142964596	chr6:56757869-56757870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189343102	chr6:56757874-56757875	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7773931	chr6:56757885-56757886	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs180795426	chr6:56757897-56757898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574075561	chr6:56757914-56757915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573705740	chr6:56757956-56757957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543149568	chr6:56758030-56758031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544395263	chr6:56758031-56758032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562682965	chr6:56758049-56758050	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62411412	chr6:56758115-56758116	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs545032337	chr6:56758128-56758129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372263079	chr6:56758196-56758197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527795693	chr6:56758202-56758203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113190675	chr6:56758230-56758231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114781299	chr6:56758263-56758264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs117907808	chr6:56758264-56758265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150195748	chr6:56758283-56758284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550331342	chr6:56758340-56758341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs199958306	chr6:56758386-56758387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78941494	chr6:56758403-56758404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571998017	chr6:56758553-56758554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371219996	chr6:56758554-56758555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375364775	chr6:56758575-56758576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551410093	chr6:56758600-56758601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566432157	chr6:56758602-56758603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533887687	chr6:56758603-56758604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369391715	chr6:56758616-56758617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373278828	chr6:56758630-56758631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376449567	chr6:56758713-56758714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201915300	chr6:56758949-56758950	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
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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56749200-56769600	Weak transcription	Brain Angular Gyrus	brain
2	chr6:56752400-56767000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr6:56753600-56757600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr6:56753600-56769600	Weak transcription	Brain Hippocampus Middle	brain
5	chr6:56753800-56757400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:56753800-56757600	Enhancers	NHDF-Ad	bronchial
7	chr6:56754200-56757400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:56755200-56762800	Weak transcription	Brain Anterior Caudate	brain
9	chr6:56755600-56757600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:56756000-56758200	Weak transcription	Primary T cells from cord blood	blood
11	chr6:56756000-56762400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr6:56756000-56767000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr6:56756000-56767400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr6:56756000-56769600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:56756000-56769600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr6:56756000-56770000	Weak transcription	Brain Substantia Nigra	brain
17	chr6:56756200-56762400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:56756200-56762400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr6:56756200-56764000	Weak transcription	NH-A	brain
20	chr6:56756200-56767200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr6:56756200-56768400	Weak transcription	HMEC	breast
22	chr6:56756200-56768600	Weak transcription	HUVEC	blood vessel
23	chr6:56756200-56768800	Weak transcription	NHEK	skin
24	chr6:56756600-56767000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr6:56756600-56775800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:56756800-56761000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:56756800-56761400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:56756800-56762200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:56756800-56762400	Weak transcription	HSMM	muscle
30	chr6:56756800-56763800	Weak transcription	HSMMtube	muscle
31	chr6:56756800-56771600	Weak transcription	K562	blood
32	chr6:56757000-56762200	Weak transcription	NHLF	lung
33	chr6:56757000-56762600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:56757000-56762600	Weak transcription	Osteobl	bone
35	chr6:56757000-56763800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:56757200-56757400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:56757200-56763600	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr6:56757200-56767400	Weak transcription	GM12878-XiMat	blood
39	chr6:56757400-56758200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:56757400-56762200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:56757400-56762200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:56757600-56762400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr6:56757600-56762400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:56757600-56762400	Weak transcription	NHDF-Ad	bronchial
45	chr6:56758200-56758400	Enhancers	Primary T cells from cord blood	blood
46	chr6:56758200-56758400	Enhancers	Primary hematopoietic stem cells	blood
47	chr6:56758200-56761000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:56759600-56767000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr6:56761000-56763400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:56761000-56763600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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