Variant report

Variant	esv3336182
Chromosome Location	chr6:149408141-149408698
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:149406617..149408839-chr6:149409602..149411999,2	K562	blood:
2	chr6:149407215..149409434-chr6:149542169..149544216,2	K562	blood:
3	chr6:149406954..149409794-chr6:149636560..149638477,3	MCF-7	breast:
4	chr6:149408079..149409641-chr6:149527096..149529581,2	K562	blood:
5	chr6:149402943..149406251-chr6:149407231..149409997,4	K562	blood:
6	chr6:149407753..149410844-chr6:149747576..149751159,3	MCF-7	breast:
7	chr6:149400900..149408936-chr6:149636750..149640736,16	MCF-7	breast:
8	chr6:149406617..149408383-chr6:149409345..149411999,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000055208	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577430709	chr6:149408149-149408150	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs6924503	chr6:149408214-149408215	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs548458934	chr6:149408218-149408219	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs559342579	chr6:149408259-149408260	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs528086872	chr6:149408299-149408300	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs541886652	chr6:149408319-149408320	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs186989547	chr6:149408335-149408336	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs6901863	chr6:149408343-149408344	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs6902487	chr6:149408412-149408413	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs570638544	chr6:149408451-149408452	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs6902195	chr6:149408455-149408456	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs550418891	chr6:149408481-149408482	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs566471986	chr6:149408517-149408518	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs534683751	chr6:149408532-149408533	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs554570482	chr6:149408557-149408558	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs568432691	chr6:149408565-149408566	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs371731439	chr6:149408639-149408640	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs116009112	chr6:149408653-149408654	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs557232937	chr6:149408670-149408671	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs577368838	chr6:149408691-149408692	Weak transcription	Chromatin interactive region	1 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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149395000-149415000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr6:149399200-149415000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:149402200-149409000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:149402200-149410600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:149402200-149414400	Weak transcription	Fetal Kidney	kidney
6	chr6:149402200-149414600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:149402200-149415000	Weak transcription	Esophagus	oesophagus
8	chr6:149402400-149409000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:149402400-149416200	Weak transcription	Fetal Heart	heart
10	chr6:149405600-149411200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr6:149405600-149413000	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr6:149405600-149413600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr6:149405800-149414000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr6:149406000-149409000	Weak transcription	Dnd41	blood
15	chr6:149406200-149413400	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr6:149406200-149413600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr6:149406800-149410600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:149407000-149413200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr6:149407200-149412000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr6:149407200-149412200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr6:149407200-149413200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr6:149407600-149411800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr6:149407800-149409000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr6:149407800-149410800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:149407800-149411600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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