Variant report

Variant	nsv981376
Chromosome Location	chr6:149115789-149121607
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:149119839..149122676-chr6:149125565..149127456,2	MCF-7	breast:
2	chr6:149120557..149122117-chr6:149122614..149125263,2	K562	blood:
3	chr6:149118997..149121960-chr6:149128657..149130734,2	MCF-7	breast:
4	chr6:149116823..149119508-chr6:149135782..149138684,2	MCF-7	breast:

Extended variants
information (count: 228 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:228 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559719196	chr6:149115835-149115836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552052250	chr6:149115843-149115844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs17085359	chr6:149115851-149115852	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs541697513	chr6:149115893-149115894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75543732	chr6:149115899-149115900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9498158	chr6:149115906-149115907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6903326	chr6:149115926-149115927	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs147920054	chr6:149115967-149115968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570125964	chr6:149116023-149116024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532796180	chr6:149116029-149116030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139999038	chr6:149116030-149116031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145410443	chr6:149116047-149116048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575529596	chr6:149116049-149116050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369151348	chr6:149116071-149116072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536140415	chr6:149116078-149116079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534047997	chr6:149116098-149116099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569387989	chr6:149116144-149116145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537977090	chr6:149116226-149116227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547839275	chr6:149116309-149116310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs193083657	chr6:149116321-149116322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147688860	chr6:149116325-149116326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563107794	chr6:149116385-149116386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534213607	chr6:149116446-149116447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371434445	chr6:149116492-149116493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185294163	chr6:149116526-149116527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536608172	chr6:149116546-149116547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140950841	chr6:149116580-149116581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79231260	chr6:149116598-149116599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575359025	chr6:149116693-149116694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs6909077	chr6:149116736-149116737	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs563864305	chr6:149116737-149116738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188754332	chr6:149116738-149116739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546232791	chr6:149116776-149116777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568858470	chr6:149116779-149116780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149770691	chr6:149116788-149116789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529565872	chr6:149116825-149116826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145666354	chr6:149116851-149116852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6929401	chr6:149116856-149116857	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs538468184	chr6:149116870-149116871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148892388	chr6:149116889-149116890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs193037793	chr6:149116967-149116968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs17085496	chr6:149116969-149116970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145455497	chr6:149116980-149116981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553786473	chr6:149116989-149116990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573949952	chr6:149117030-149117031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573567863	chr6:149117047-149117048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559019910	chr6:149117109-149117110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535398708	chr6:149117111-149117112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555666888	chr6:149117125-149117126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575423868	chr6:149117129-149117130	Weak transcription Enhancers	n/a	n/a	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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149102800-149122600	Weak transcription	Ovary	ovary
2	chr6:149103000-149115800	Weak transcription	Aorta	Aorta
3	chr6:149103600-149121600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr6:149104000-149116200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr6:149106200-149120800	Weak transcription	Fetal Heart	heart
6	chr6:149111400-149125000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:149111600-149115800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr6:149112000-149119000	Weak transcription	Spleen	Spleen
9	chr6:149112200-149124800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:149112400-149119400	Weak transcription	Fetal Thymus	thymus
11	chr6:149112400-149119600	Weak transcription	Pancreas	Pancrea
12	chr6:149113200-149125000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:149113800-149116400	Weak transcription	Stomach Mucosa	stomach
14	chr6:149114000-149115800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:149114400-149115800	ZNF genes & repeats	Primary B cells from cord blood	blood
16	chr6:149114800-149121200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:149115000-149115800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr6:149115200-149116000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:149115200-149120400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr6:149115200-149125000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr6:149115400-149115800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr6:149115400-149115800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr6:149115400-149116000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr6:149115400-149116800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr6:149115400-149125000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:149115800-149116200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr6:149115800-149116200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr6:149115800-149116400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr6:149115800-149116600	Enhancers	H9 Cell Line	embryonic stem cell
30	chr6:149115800-149116600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr6:149115800-149116600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr6:149115800-149116600	Enhancers	Aorta	Aorta
33	chr6:149115800-149116600	Enhancers	Osteobl	bone
34	chr6:149115800-149116800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:149115800-149117400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr6:149115800-149144800	Weak transcription	Primary B cells from cord blood	blood
37	chr6:149116000-149116600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr6:149116000-149117000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:149116200-149116400	Enhancers	Primary B cells from peripheral blood	blood
40	chr6:149116200-149116600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr6:149116200-149116600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr6:149116200-149116800	Enhancers	NHEK	skin
43	chr6:149116200-149117000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:149116200-149122800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr6:149116200-149133600	Weak transcription	Fetal Stomach	stomach
46	chr6:149116400-149116600	Enhancers	Stomach Smooth Muscle	stomach
47	chr6:149116400-149116800	Enhancers	Stomach Mucosa	stomach
48	chr6:149116400-149118800	Weak transcription	Primary B cells from peripheral blood	blood
49	chr6:149116400-149123000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr6:149116600-149119000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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