Variant report

Variant	esv1982720
Chromosome Location	chr6:25529673-25530223
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190997231	chr6:25529679-25529680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182964688	chr6:25529684-25529685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187258470	chr6:25529718-25529719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199888691	chr6:25529801-25529802	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1747567	chr6:25529870-25529871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370619687	chr6:25529877-25529878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573246395	chr6:25529879-25529880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188984566	chr6:25529886-25529887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201182133	chr6:25529887-25529888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551561394	chr6:25529900-25529901	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571303866	chr6:25529907-25529908	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140694661	chr6:25529918-25529919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9467530	chr6:25529924-25529925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192643074	chr6:25529925-25529926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547426968	chr6:25529941-25529942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184632043	chr6:25529952-25529953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549464968	chr6:25529953-25529954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs80315036	chr6:25529983-25529984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9461184	chr6:25530011-25530012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs70977217	chr6:25530012-25530013	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565632740	chr6:25530036-25530037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545172157	chr6:25530062-25530063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186827670	chr6:25530066-25530067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs214056	chr6:25530084-25530085	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs145902952	chr6:25530106-25530107	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367692904	chr6:25530113-25530114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572273110	chr6:25530200-25530201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
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
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
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	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
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
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25456400-25537000	Weak transcription	Esophagus	oesophagus
2	chr6:25463200-25532200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:25471600-25597200	Weak transcription	Gastric	stomach
4	chr6:25483000-25532200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr6:25490400-25543000	Weak transcription	Hela-S3	cervix
6	chr6:25494000-25551400	Weak transcription	Left Ventricle	heart
7	chr6:25506600-25537400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:25509800-25548600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr6:25511600-25531400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr6:25513800-25530200	Weak transcription	Brain Germinal Matrix	brain
11	chr6:25514200-25542600	Weak transcription	Adipose Nuclei	Adipose
12	chr6:25514200-25558400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:25514400-25541600	Weak transcription	Colonic Mucosa	Colon
14	chr6:25514800-25537800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr6:25515000-25538600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:25516200-25547000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:25516200-25556800	Weak transcription	Pancreas	Pancrea
18	chr6:25516400-25556800	Weak transcription	Fetal Stomach	stomach
19	chr6:25516600-25539600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr6:25516600-25544000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:25516800-25537200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:25516800-25545200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr6:25516800-25606400	Weak transcription	Lung	lung
24	chr6:25517000-25542200	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr6:25517200-25530200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr6:25517400-25540200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr6:25517400-25542200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr6:25519000-25540000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr6:25519000-25540000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:25519800-25543200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr6:25519800-25556800	Weak transcription	Ovary	ovary
32	chr6:25521200-25533200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:25521600-25533000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:25521600-25536800	Weak transcription	Brain Anterior Caudate	brain
35	chr6:25521600-25541000	Weak transcription	HSMMtube	muscle
36	chr6:25521600-25541000	Weak transcription	NHEK	skin
37	chr6:25522200-25545400	Weak transcription	Small Intestine	intestine
38	chr6:25522400-25538600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr6:25522400-25588600	Weak transcription	HMEC	breast
40	chr6:25522600-25530000	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr6:25522600-25537400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:25522800-25540000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr6:25523000-25535000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr6:25523000-25550600	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr6:25523000-25577200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr6:25523200-25532800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr6:25523200-25535200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:25523200-25535200	Weak transcription	Fetal Lung	lung
49	chr6:25523200-25538000	Weak transcription	Thymus	Thymus
50	chr6:25523200-25541400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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