Variant report

Variant	esv2451462
Chromosome Location	chr6:149632403-149634017
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:149617737..149619695-chr6:149633576..149636215,2	MCF-7	breast:
2	chr6:149629573..149635646-chr6:149637142..149639783,10	MCF-7	breast:
3	chr6:149401082..149403539-chr6:149632212..149635956,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000055208	chromatin interactions

Extended variants
information (count: 69 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555156317	chr6:149632407-149632408	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs575139820	chr6:149632417-149632418	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs553543134	chr6:149632490-149632491	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs482388	chr6:149632522-149632523	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs556979195	chr6:149632532-149632533	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs576942738	chr6:149632544-149632545	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs114509096	chr6:149632563-149632564	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs374437799	chr6:149632615-149632616	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs559147339	chr6:149632624-149632625	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs528196566	chr6:149632625-149632626	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs541611795	chr6:149632666-149632667	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs546755832	chr6:149632671-149632672	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs77159351	chr6:149632683-149632684	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs542251734	chr6:149632685-149632686	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs530707726	chr6:149632730-149632731	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs371977189	chr6:149632769-149632770	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs67358512	chr6:149632783-149632784	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs511924	chr6:149632785-149632786	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs191331218	chr6:149632789-149632790	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs510343	chr6:149632926-149632927	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs149992979	chr6:149632943-149632944	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs376798877	chr6:149632944-149632945	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs541155	chr6:149632961-149632962	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs60038742	chr6:149632973-149632974	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs545271049	chr6:149632992-149632993	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs565154657	chr6:149633017-149633018	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs566001459	chr6:149633136-149633137	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs535122467	chr6:149633140-149633141	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs554853664	chr6:149633215-149633216	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs374201850	chr6:149633216-149633217	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs183928370	chr6:149633246-149633247	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs537717803	chr6:149633263-149633264	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs485360	chr6:149633325-149633326	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs137957514	chr6:149633364-149633365	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs4424115	chr6:149633369-149633370	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs552934768	chr6:149633408-149633409	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs572845969	chr6:149633430-149633431	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs9404027	chr6:149633491-149633492	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs545750	chr6:149633492-149633493	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs188359247	chr6:149633581-149633582	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs372314402	chr6:149633592-149633593	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs9498318	chr6:149633594-149633595	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs483329	chr6:149633602-149633603	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs139779117	chr6:149633606-149633607	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs542212307	chr6:149633608-149633609	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs531653074	chr6:149633649-149633650	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs181169031	chr6:149633660-149633661	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs528561278	chr6:149633670-149633671	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs548690119	chr6:149633690-149633691	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs554144391	chr6:149633691-149633692	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

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

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149628000-149637800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:149628600-149637200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:149632200-149633000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:149632400-149632600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr6:149632400-149637200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr6:149633000-149633200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:149634000-149635000	Enhancers	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links