Variant report

Variant	esv3350697
Chromosome Location	chr6:149888593-149889334
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:149886717..149888905-chr6:150037583..150040474,2	MCF-7	breast:
2	chr6:149887413..149889033-chr6:149958089..149960817,2	K562	blood:
3	chr6:149887497..149889067-chr6:149953634..149955368,2	K562	blood:
4	chr6:149865611..149871097-chr6:149883709..149888968,8	K562	blood:
5	chr6:149887426..149891060-chr6:150037726..150040656,4	K562	blood:
6	chr6:149887638..149889418-chr6:149897443..149899421,2	MCF-7	breast:
7	chr6:149884132..149889842-chr6:149966518..149971305,10	K562	blood:
8	chr6:149888124..149890319-chr6:149910443..149912439,2	MCF-7	breast:
9	chr6:149887503..149889427-chr6:149890997..149894118,3	MCF-7	breast:
10	chr6:149865083..149869048-chr6:149884009..149889859,10	MCF-7	breast:
11	chr6:149865819..149869096-chr6:149885709..149888757,8	MCF-7	breast:
12	chr6:149884836..149889436-chr6:149966369..149971850,7	K562	blood:
13	chr6:149884840..149889202-chr6:150038504..150040931,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000186625	chromatin interactions
ENSG00000131013	chromatin interactions
ENSG00000131023	chromatin interactions

Extended variants
information (count: 36 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185377533	chr6:149888660-149888661	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs112331188	chr6:149888687-149888688	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs570320708	chr6:149888701-149888702	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs563750361	chr6:149888702-149888703	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs191130200	chr6:149888712-149888713	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs546186691	chr6:149888716-149888717	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs560222392	chr6:149888725-149888726	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs79023837	chr6:149888732-149888733	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs528967466	chr6:149888738-149888739	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs148989925	chr6:149888762-149888763	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs568932674	chr6:149888767-149888768	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs71568281	chr6:149888769-149888770	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs548478027	chr6:149888772-149888773	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs538143128	chr6:149888782-149888783	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs568345945	chr6:149888789-149888790	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs183391148	chr6:149888816-149888817	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs571554867	chr6:149888834-149888835	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs539885466	chr6:149888953-149888954	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs553068325	chr6:149889006-149889007	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs573321853	chr6:149889012-149889013	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs535544087	chr6:149889022-149889023	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs555948128	chr6:149889032-149889033	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs188374036	chr6:149889034-149889035	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs575386220	chr6:149889083-149889084	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs544392500	chr6:149889085-149889086	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs564489177	chr6:149889107-149889108	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs116081979	chr6:149889171-149889172	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs193196755	chr6:149889177-149889178	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs539878802	chr6:149889181-149889182	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs559862674	chr6:149889188-149889189	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs377071078	chr6:149889225-149889226	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs552732431	chr6:149889237-149889238	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs529007731	chr6:149889246-149889247	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs370449433	chr6:149889263-149889264	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs147707560	chr6:149889266-149889267	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs562710645	chr6:149889283-149889284	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	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
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:287 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149886000-149888600	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr6:149886200-149888600	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr6:149886200-149888600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr6:149886200-149888600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr6:149886200-149888600	Active TSS	Brain Anterior Caudate	brain
6	chr6:149886200-149888600	Active TSS	Colonic Mucosa	Colon
7	chr6:149886200-149888600	Active TSS	Fetal Intestine Large	intestine
8	chr6:149886200-149888800	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr6:149886200-149888800	Active TSS	Fetal Intestine Small	intestine
10	chr6:149886200-149888800	Active TSS	Fetal Kidney	kidney
11	chr6:149886200-149888800	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr6:149886200-149888800	Active TSS	Rectal Smooth Muscle	rectum
13	chr6:149886200-149888800	Active TSS	A549	lung
14	chr6:149886400-149888600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:149886400-149888600	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr6:149886400-149888600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:149886400-149888600	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr6:149886400-149888600	Active TSS	Right Ventricle	heart
19	chr6:149886400-149889200	Active TSS	GM12878-XiMat	blood
20	chr6:149886600-149888600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:149886600-149888600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:149886600-149888600	Active TSS	Brain Angular Gyrus	brain
23	chr6:149886600-149888600	Active TSS	Colon Smooth Muscle	Colon
24	chr6:149886600-149888600	Active TSS	HSMM	muscle
25	chr6:149886600-149888800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr6:149886600-149888800	Active TSS	Fetal Brain Female	brain
27	chr6:149886800-149888600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:149886800-149888600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr6:149886800-149888600	Active TSS	Left Ventricle	heart
30	chr6:149886800-149888600	Active TSS	HSMMtube	muscle
31	chr6:149886800-149888800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:149886800-149888800	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr6:149886800-149888800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:149886800-149888800	Active TSS	NHLF	lung
35	chr6:149886800-149889000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:149886800-149889000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:149887000-149888800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr6:149887600-149888600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
39	chr6:149887800-149888600	Active TSS	Right Atrium	heart
40	chr6:149887800-149888800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr6:149888000-149888600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
42	chr6:149888000-149888600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr6:149888000-149888600	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr6:149888000-149888600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
45	chr6:149888000-149888600	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr6:149888000-149888600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr6:149888000-149888600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr6:149888000-149888600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr6:149888000-149888600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr6:149888000-149888600	Flanking Active TSS	Liver	Liver

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