Variant report

Variant	esv3439931
Chromosome Location	chr6:23870273-23874471
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 214 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:214 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201723481	chr6:23870275-23870276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552880685	chr6:23870298-23870299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556674189	chr6:23870355-23870356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182089569	chr6:23870419-23870420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566231997	chr6:23870421-23870422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539569545	chr6:23870450-23870451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186377835	chr6:23870459-23870460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576116517	chr6:23870460-23870461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543417744	chr6:23870506-23870507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555731030	chr6:23870543-23870544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568604161	chr6:23870560-23870561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139822500	chr6:23870582-23870583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12665727	chr6:23870606-23870607	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs188425137	chr6:23870614-23870615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533174323	chr6:23870615-23870616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143205450	chr6:23870628-23870629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs56189051	chr6:23870634-23870635	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs9466952	chr6:23870656-23870657	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs549045757	chr6:23870674-23870675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567243502	chr6:23870681-23870682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529592212	chr6:23870689-23870690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577439366	chr6:23870730-23870731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs62402268	chr6:23870773-23870774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549606148	chr6:23870775-23870776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79173695	chr6:23870776-23870777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs78329024	chr6:23870789-23870790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76549410	chr6:23870790-23870791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557937735	chr6:23870856-23870857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573348670	chr6:23870870-23870871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs9460932	chr6:23870876-23870877	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs370083036	chr6:23870925-23870926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539656957	chr6:23870933-23870934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs180746312	chr6:23870935-23870936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556003363	chr6:23871013-23871014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145394272	chr6:23871015-23871016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573984566	chr6:23871020-23871021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs374067710	chr6:23871029-23871030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186655441	chr6:23871041-23871042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190998984	chr6:23871060-23871061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182010613	chr6:23871075-23871076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560669921	chr6:23871108-23871109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527762520	chr6:23871112-23871113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78877215	chr6:23871207-23871208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200871839	chr6:23871209-23871210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs370491327	chr6:23871211-23871212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534682555	chr6:23871224-23871225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186942003	chr6:23871239-23871240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1511472	chr6:23871249-23871250	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs545226745	chr6:23871251-23871252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563468926	chr6:23871269-23871270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
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
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
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:23869400-23870400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:23869800-23871200	Enhancers	Fetal Brain Male	brain
3	chr6:23870400-23877200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:23870600-23871000	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr6:23870600-23871200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:23870600-23871200	Enhancers	Brain Germinal Matrix	brain
7	chr6:23870600-23871400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr6:23870600-23872200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:23870800-23871200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr6:23871200-23872200	Weak transcription	Fetal Brain Male	brain
11	chr6:23871200-23873600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:23871200-23874600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr6:23871200-23874800	Weak transcription	Brain Germinal Matrix	brain
14	chr6:23871400-23874400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:23872200-23872600	Enhancers	Fetal Brain Male	brain
16	chr6:23872200-23872600	Active TSS	Fetal Lung	lung
17	chr6:23872200-23872600	ZNF genes & repeats	Pancreas	Pancrea
18	chr6:23872200-23873200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:23873000-23874800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:23873000-23876400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:23873200-23873600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:23873600-23876200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:23873600-23881800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:23874000-23876000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:23874400-23876000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links