Variant report

Variant	nsv464074
Chromosome Location	chr6:149211090-149242095
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:149190747..149193671-chr6:149226821..149229709,2	MCF-7	breast:
2	chr6:149236497..149238060-chr6:149238123..149240349,2	K562	blood:
3	chr15:23001522..23002177-chr6:149210634..149211252,2	MCF-7	breast:
4	chr6:149233576..149235247-chr6:149235248..149237823,2	MCF-7	breast:
5	chr6:149235031..149236841-chr6:149238343..149239900,2	MCF-7	breast:
6	chr6:149233576..149235247-chr6:149235248..149237823,2	MCF-7	breast:
7	chr14:95600894..95601480-chr6:149231090..149231639,2	MCF-7	breast:
8	chr6:149235031..149236841-chr6:149238343..149239900,2	MCF-7	breast:
9	chr6:149236497..149238060-chr6:149238123..149240349,2	K562	blood:

No data

Extended variants
information (count: 1306 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1306 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10499259	chr6:149211090-149211091	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561724039	chr6:149211147-149211148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537827097	chr6:149211207-149211208	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs543953807	chr6:149211216-149211217	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs149263244	chr6:149211241-149211242	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs189418838	chr6:149211254-149211255	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs1817508	chr6:149211263-149211264	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs73778939	chr6:149211289-149211290	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs546145974	chr6:149211312-149211313	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs560414729	chr6:149211324-149211325	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs529537163	chr6:149211350-149211351	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs548381278	chr6:149211354-149211355	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs549203808	chr6:149211363-149211364	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs144482505	chr6:149211376-149211377	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs377554468	chr6:149211377-149211378	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs137901204	chr6:149211390-149211391	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs77060329	chr6:149211395-149211396	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs371094661	chr6:149211515-149211516	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142341655	chr6:149211527-149211528	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554207429	chr6:149211552-149211553	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573216168	chr6:149211613-149211614	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs7746485	chr6:149211616-149211617	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs535400696	chr6:149211629-149211630	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs191567825	chr6:149211670-149211671	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs17079531	chr6:149211688-149211689	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs534165856	chr6:149211696-149211697	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs56904209	chr6:149211766-149211767	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs577270849	chr6:149211767-149211768	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs539886536	chr6:149211796-149211797	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs559705866	chr6:149211799-149211800	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs529577254	chr6:149211834-149211835	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs549390180	chr6:149211844-149211845	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs563167400	chr6:149211883-149211884	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs371162946	chr6:149211884-149211885	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs184084746	chr6:149211892-149211893	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs551905826	chr6:149211923-149211924	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs188574526	chr6:149211941-149211942	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs527778181	chr6:149211942-149211943	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs146407065	chr6:149211984-149211985	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs567645683	chr6:149212003-149212004	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs139732837	chr6:149212081-149212082	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs555392702	chr6:149212082-149212083	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs181333613	chr6:149212102-149212103	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs537644672	chr6:149212103-149212104	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs142932073	chr6:149212133-149212134	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs185946063	chr6:149212184-149212185	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs539922523	chr6:149212269-149212270	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs150660054	chr6:149212298-149212299	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs573321668	chr6:149212316-149212317	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs369871538	chr6:149212334-149212335	Weak transcription Strong transcription Enhancers Bivalent Enhancer	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:270 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149193200-149218800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr6:149199400-149215600	Weak transcription	Spleen	Spleen
3	chr6:149203400-149213400	Weak transcription	Dnd41	blood
4	chr6:149205400-149211200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr6:149206000-149212600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:149206200-149212600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:149206400-149211800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr6:149206400-149212400	Enhancers	Fetal Muscle Leg	muscle
9	chr6:149207400-149211400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:149207400-149214800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:149207800-149219400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:149207800-149221400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr6:149207800-149237400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr6:149208000-149217200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr6:149208000-149229800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr6:149208600-149213200	Weak transcription	NHLF	lung
17	chr6:149208800-149211800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr6:149209000-149212600	Enhancers	Ovary	ovary
19	chr6:149209000-149213200	Weak transcription	NHEK	skin
20	chr6:149209000-149247600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:149209600-149213200	Enhancers	Fetal Heart	heart
22	chr6:149209600-149214800	Weak transcription	Fetal Stomach	stomach
23	chr6:149209800-149211200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr6:149209800-149211400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:149209800-149230800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr6:149210000-149211600	Enhancers	Stomach Smooth Muscle	stomach
27	chr6:149210000-149212400	Enhancers	HSMMtube	muscle
28	chr6:149210000-149218000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr6:149210000-149220800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr6:149210200-149211200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:149210200-149211400	Weak transcription	Fetal Brain Female	brain
32	chr6:149210200-149211600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr6:149210200-149211600	Enhancers	Adipose Nuclei	Adipose
34	chr6:149210200-149212400	Enhancers	Fetal Muscle Trunk	muscle
35	chr6:149210200-149212600	Enhancers	Aorta	Aorta
36	chr6:149210200-149212600	Enhancers	Fetal Lung	lung
37	chr6:149210200-149212600	Enhancers	Right Atrium	heart
38	chr6:149210200-149212600	Enhancers	Osteobl	bone
39	chr6:149210200-149212800	Enhancers	Stomach Mucosa	stomach
40	chr6:149210200-149230200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr6:149210200-149240200	Weak transcription	Primary B cells from cord blood	blood
42	chr6:149210400-149211400	Weak transcription	Fetal Brain Male	brain
43	chr6:149210400-149214800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr6:149210400-149226200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:149210400-149235000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr6:149210600-149211400	Enhancers	Muscle Satellite Cultured Cells	--
47	chr6:149210800-149211200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr6:149210800-149211600	Enhancers	Left Ventricle	heart
49	chr6:149210800-149211600	Enhancers	HSMM	muscle
50	chr6:149210800-149226000	Weak transcription	Esophagus	oesophagus

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