Variant report

Variant	esv3324114
Chromosome Location	chr6:149974324-149975002
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:149968613..149970928-chr6:149973421..149975497,3	K562	blood:
2	chr6:149971850..149974474-chr6:149978740..149980877,2	K562	blood:
3	chr6:149972169..149975034-chr6:149981677..149983455,2	K562	blood:
4	chr6:149971462..149974474-chr6:149978502..149980878,3	K562	blood:
5	chr6:149968172..149971414-chr6:149973403..149975497,4	K562	blood:
6	chr6:149971279..149975034-chr6:149981677..149984189,3	K562	blood:

Variant related genes	Relation type
ENSG00000186625	chromatin interactions

Extended variants
information (count: 28 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540806376	chr6:149974385-149974386	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs76236341	chr6:149974422-149974423	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs75078394	chr6:149974424-149974425	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs76105546	chr6:149974434-149974435	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs560647895	chr6:149974445-149974446	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs553945982	chr6:149974452-149974453	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs148746164	chr6:149974459-149974460	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs542256782	chr6:149974521-149974522	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs567665246	chr6:149974555-149974556	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs562104384	chr6:149974571-149974572	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs531309974	chr6:149974595-149974596	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs34187261	chr6:149974693-149974694	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs185398826	chr6:149974734-149974735	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs542839446	chr6:149974751-149974752	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs571437676	chr6:149974758-149974759	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs189059907	chr6:149974788-149974789	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs530849623	chr6:149974805-149974806	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs527530043	chr6:149974843-149974844	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs532538700	chr6:149974877-149974878	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs547550662	chr6:149974914-149974915	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs142334481	chr6:149974915-149974916	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs536508899	chr6:149974939-149974940	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs9766024	chr6:149974940-149974941	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs569244313	chr6:149974971-149974972	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs11966727	chr6:149974975-149974976	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs546275561	chr6:149974978-149974979	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs558004741	chr6:149974983-149974984	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs372095251	chr6:149974989-149974990	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149970000-149978400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:149970000-149983800	Weak transcription	Gastric	stomach
3	chr6:149970000-149989600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:149970200-149977600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:149970200-149977800	Weak transcription	HMEC	breast
6	chr6:149970200-149978200	Weak transcription	Left Ventricle	heart
7	chr6:149970200-149983000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:149970200-149985800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:149970200-149988200	Weak transcription	Aorta	Aorta
10	chr6:149970200-149989600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:149970200-149989600	Weak transcription	Small Intestine	intestine
12	chr6:149970200-149989800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:149970400-149976800	Weak transcription	Fetal Brain Female	brain
14	chr6:149970400-149977000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:149970400-149977000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:149970400-149977400	Weak transcription	Placenta	Placenta
17	chr6:149970400-149977600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:149970400-149977800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr6:149970400-149977800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr6:149970400-149977800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr6:149970400-149977800	Weak transcription	Liver	Liver
22	chr6:149970400-149977800	Weak transcription	Brain Angular Gyrus	brain
23	chr6:149970400-149977800	Weak transcription	Fetal Intestine Large	intestine
24	chr6:149970400-149977800	Weak transcription	Fetal Kidney	kidney
25	chr6:149970400-149977800	Weak transcription	HSMMtube	muscle
26	chr6:149970400-149978000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:149970400-149978000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:149970400-149978000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:149970400-149978000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:149970400-149978000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:149970400-149978000	Weak transcription	NH-A	brain
32	chr6:149970400-149978200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr6:149970400-149978200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr6:149970400-149978200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr6:149970400-149978200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:149970400-149978200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr6:149970400-149978200	Weak transcription	Thymus	Thymus
38	chr6:149970400-149978600	Weak transcription	Brain Germinal Matrix	brain
39	chr6:149970400-149981000	Weak transcription	HSMM	muscle
40	chr6:149970400-149981400	Weak transcription	NHEK	skin
41	chr6:149970400-149981400	Weak transcription	Osteobl	bone
42	chr6:149970400-149982200	Weak transcription	NHDF-Ad	bronchial
43	chr6:149970400-149982600	Weak transcription	HUVEC	blood vessel
44	chr6:149970400-149982800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr6:149970400-149982800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr6:149970400-149982800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr6:149970400-149982800	Weak transcription	NHLF	lung
48	chr6:149970400-149983000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr6:149970400-149983000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr6:149970400-149983000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links