Variant report

Variant	esv3449614
Chromosome Location	chr6:142762709-142765207
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:142763089..142766069-chr6:142766128..142768909,2	K562	blood:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	GPR126	hsa-miR-192-5p	chr6:142764550-142764570
2	GPR126	hsa-miR-215-5p	chr6:142764550-142764570

Extended variants
information (count: 75 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561953573	chr6:142762759-142762760	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538431308	chr6:142762783-142762784	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575408717	chr6:142762790-142762791	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556799684	chr6:142762817-142762818	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145601176	chr6:142762846-142762847	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545731885	chr6:142762855-142762856	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544379181	chr6:142762858-142762859	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577733709	chr6:142762875-142762876	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146420995	chr6:142762943-142762944	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34765752	chr6:142763000-142763001	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571984660	chr6:142763007-142763008	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs62430162	chr6:142763013-142763014	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371862877	chr6:142763039-142763040	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2294772	chr6:142763069-142763070	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs144605766	chr6:142763070-142763071	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187783278	chr6:142763120-142763121	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs193290668	chr6:142763148-142763149	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532249353	chr6:142763149-142763150	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs77223021	chr6:142763176-142763177	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565872039	chr6:142763195-142763196	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76191174	chr6:142763199-142763200	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185149338	chr6:142763266-142763267	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552197024	chr6:142763287-142763288	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567704817	chr6:142763298-142763299	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559040906	chr6:142763348-142763349	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570559542	chr6:142763370-142763371	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs56989317	chr6:142763414-142763415	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138420372	chr6:142763439-142763440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550362805	chr6:142763447-142763448	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190339161	chr6:142763509-142763510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539262912	chr6:142763552-142763553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554429956	chr6:142763571-142763572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370603047	chr6:142763580-142763581	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6570512	chr6:142763626-142763627	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs369394223	chr6:142763651-142763652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536240567	chr6:142763652-142763653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116191163	chr6:142763668-142763669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576045493	chr6:142763673-142763674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568282255	chr6:142763789-142763790	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192589589	chr6:142763880-142763881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537270751	chr6:142763887-142763888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550778952	chr6:142763888-142763889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540868885	chr6:142763949-142763950	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570964849	chr6:142763981-142763982	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143325488	chr6:142763999-142764000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9403386	chr6:142764073-142764074	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs372007409	chr6:142764077-142764078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553333080	chr6:142764101-142764102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376616326	chr6:142764239-142764240	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561140807	chr6:142764246-142764247	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Gastric cancer	17908304	CNVD
lymphocytic leukemia	21291569	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
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
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	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
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Burkitt''s lymphoma	19759907	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142718000-142763200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:142735200-142765400	Weak transcription	Hela-S3	cervix
3	chr6:142735800-142765400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:142737600-142765600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr6:142737800-142765800	Weak transcription	Fetal Brain Male	brain
6	chr6:142738000-142774200	Weak transcription	NHEK	skin
7	chr6:142739000-142764800	Weak transcription	NHLF	lung
8	chr6:142743200-142769200	Weak transcription	HMEC	breast
9	chr6:142748000-142782600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:142749200-142764600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr6:142750000-142766000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:142751600-142780000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:142752400-142774600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:142753600-142774000	Strong transcription	Liver	Liver
15	chr6:142754000-142772800	Strong transcription	HepG2	liver
16	chr6:142755200-142765800	Weak transcription	Fetal Intestine Small	intestine
17	chr6:142755200-142766000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:142756400-142764400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr6:142757200-142765400	Weak transcription	Fetal Intestine Large	intestine
20	chr6:142757200-142765400	Weak transcription	Fetal Stomach	stomach
21	chr6:142758400-142762800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:142758600-142763200	Strong transcription	A549	lung
23	chr6:142760000-142770600	Weak transcription	Lung	lung
24	chr6:142760400-142767800	Weak transcription	Esophagus	oesophagus
25	chr6:142760600-142765400	Weak transcription	HSMM	muscle
26	chr6:142760600-142765800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:142760800-142765400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:142761600-142763200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr6:142761600-142763200	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr6:142761600-142763200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr6:142761800-142762800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr6:142761800-142763200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr6:142761800-142763200	Enhancers	H1 Cell Line	embryonic stem cell
34	chr6:142761800-142763200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:142761800-142763400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr6:142762000-142765400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr6:142762200-142763200	Enhancers	H9 Cell Line	embryonic stem cell
38	chr6:142762200-142763200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:142762200-142763200	Genic enhancers	Fetal Lung	lung
40	chr6:142762200-142764200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:142762200-142765400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:142762200-142773000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:142762400-142764000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr6:142762400-142766000	Weak transcription	HUVEC	blood vessel
45	chr6:142762600-142763200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:142762600-142763200	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr6:142762600-142763400	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr6:142762600-142765400	Weak transcription	Placenta	Placenta
49	chr6:142762800-142765800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr6:142762800-142766800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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