Variant report

Variant	esv3406200
Chromosome Location	chr6:25449998-25452546
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:25445547..25447819-chr6:25452379..25454389,2	K562	blood:
2	chr6:25448709..25450289-chr6:25450958..25453403,2	K562	blood:
3	chr6:25448709..25450289-chr6:25450958..25453403,2	K562	blood:

Extended variants
information (count: 122 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542865200	chr6:25450006-25450007	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9295661	chr6:25450026-25450027	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs527442783	chr6:25450061-25450062	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34310139	chr6:25450081-25450082	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369869736	chr6:25450086-25450087	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547506426	chr6:25450101-25450102	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10214744	chr6:25450104-25450105	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs192307235	chr6:25450117-25450118	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369632290	chr6:25450148-25450149	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199969829	chr6:25450163-25450164	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555687744	chr6:25450164-25450165	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569866226	chr6:25450167-25450168	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372730028	chr6:25450177-25450178	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375982999	chr6:25450182-25450183	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548908432	chr6:25450183-25450184	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565861368	chr6:25450191-25450192	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370272117	chr6:25450201-25450202	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534828880	chr6:25450202-25450203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557812659	chr6:25450230-25450231	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372593247	chr6:25450234-25450235	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571333325	chr6:25450245-25450246	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184425873	chr6:25450293-25450294	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557284740	chr6:25450315-25450316	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574256368	chr6:25450321-25450322	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543305793	chr6:25450347-25450348	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189311935	chr6:25450349-25450350	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181399129	chr6:25450402-25450403	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35898937	chr6:25450423-25450424	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541155825	chr6:25450459-25450460	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146409780	chr6:25450488-25450489	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372848909	chr6:25450541-25450542	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371033239	chr6:25450558-25450559	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187145285	chr6:25450608-25450609	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs533023516	chr6:25450659-25450660	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs376283953	chr6:25450702-25450703	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs367845997	chr6:25450772-25450773	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs543450886	chr6:25450790-25450791	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs186432071	chr6:25450792-25450793	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs189268554	chr6:25450835-25450836	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs549247794	chr6:25450848-25450849	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs565769225	chr6:25450849-25450850	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs528247671	chr6:25450855-25450856	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs78628329	chr6:25450884-25450885	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs371039331	chr6:25450889-25450890	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs375049513	chr6:25450919-25450920	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs200666805	chr6:25450952-25450953	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs146339541	chr6:25450953-25450954	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs373356786	chr6:25450958-25450959	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs184187223	chr6:25450960-25450961	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs571418789	chr6:25450965-25450966	Weak transcription Enhancers Active TSS Flanking Active TSS	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:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25411000-25451800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:25418800-25462600	Weak transcription	Ovary	ovary
3	chr6:25433400-25472600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr6:25434200-25450200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:25436200-25481400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:25438200-25472600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr6:25442000-25455600	Weak transcription	Aorta	Aorta
8	chr6:25443200-25472600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr6:25446400-25450000	Weak transcription	Fetal Brain Male	brain
10	chr6:25446600-25460000	Weak transcription	Fetal Lung	lung
11	chr6:25446800-25450200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr6:25446800-25450800	Enhancers	HMEC	breast
13	chr6:25446800-25451000	Enhancers	NHEK	skin
14	chr6:25446800-25451400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr6:25446800-25454200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:25446800-25454200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:25446800-25493600	Weak transcription	Left Ventricle	heart
18	chr6:25446800-25504400	Weak transcription	Primary B cells from cord blood	blood
19	chr6:25447000-25450600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:25447000-25450800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:25447000-25450800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:25447000-25451600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr6:25447400-25452200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr6:25447400-25473200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr6:25447800-25450800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:25447800-25453800	Weak transcription	Primary T cells from cord blood	blood
27	chr6:25448000-25450200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr6:25448000-25450200	Weak transcription	Stomach Mucosa	stomach
29	chr6:25448000-25450800	Enhancers	H1 Cell Line	embryonic stem cell
30	chr6:25448000-25451600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr6:25448200-25450000	Weak transcription	Adipose Nuclei	Adipose
32	chr6:25448200-25450000	Weak transcription	Placenta	Placenta
33	chr6:25448200-25450800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr6:25448200-25451600	Weak transcription	Right Atrium	heart
35	chr6:25448200-25472600	Weak transcription	Pancreas	Pancrea
36	chr6:25448400-25450000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr6:25448400-25456600	Weak transcription	Gastric	stomach
38	chr6:25448400-25464400	Weak transcription	Thymus	Thymus
39	chr6:25448600-25450000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr6:25448600-25450200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr6:25448600-25450800	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr6:25448800-25450600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:25448800-25451000	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr6:25449000-25450000	Weak transcription	Fetal Intestine Large	intestine
45	chr6:25449000-25451000	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr6:25449000-25462400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr6:25449000-25463600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr6:25449200-25450400	Enhancers	Fetal Brain Female	brain
49	chr6:25449200-25450800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:25449200-25454000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links