Variant report

Variant	nsv517889
Chromosome Location	chr6:149653792-149658118
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:149656360..149658618-chr6:149662826..149665284,3	MCF-7	breast:
2	chr6:149637223..149639527-chr6:149652423..149654557,3	K562	blood:
3	chr6:149352806..149354632-chr6:149655846..149657368,2	MCF-7	breast:
4	chr6:149646598..149650161-chr6:149650268..149655691,6	MCF-7	breast:
5	chr6:149654628..149657508-chr6:149659280..149661788,2	MCF-7	breast:
6	chr6:149638680..149640382-chr6:149658017..149659525,2	MCF-7	breast:
7	chr6:149654386..149656937-chr6:149663609..149665737,2	K562	blood:
8	chr6:149652416..149655199-chr6:149659324..149661368,2	K562	blood:
9	chr6:149643934..149646869-chr6:149651768..149654461,2	K562	blood:
10	chr6:149648554..149650974-chr6:149651371..149654134,3	K562	blood:
11	chr6:149637223..149641886-chr6:149650956..149658366,12	K562	blood:
12	chr6:149636994..149642058-chr6:149649092..149655125,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000236591	chromatin interactions
ENSG00000055208	chromatin interactions

Extended variants
information (count: 162 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:162 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559052	chr6:149653792-149653793	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113944060	chr6:149653798-149653799	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs181061471	chr6:149653803-149653804	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs580499	chr6:149653828-149653829	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs540968132	chr6:149653830-149653831	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs201780871	chr6:149653832-149653833	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs554306375	chr6:149653837-149653838	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs148635311	chr6:149653916-149653917	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs144236463	chr6:149653928-149653929	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs185693453	chr6:149653938-149653939	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs556655884	chr6:149653958-149653959	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs576602626	chr6:149654003-149654004	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs147766110	chr6:149654034-149654035	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs552809834	chr6:149654035-149654036	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs188787581	chr6:149654040-149654041	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs560613243	chr6:149654102-149654103	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs11155642	chr6:149654120-149654121	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs561154895	chr6:149654210-149654211	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs115038573	chr6:149654230-149654231	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs542828817	chr6:149654238-149654239	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs181549895	chr6:149654247-149654248	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs563793530	chr6:149654265-149654266	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs141096202	chr6:149654275-149654276	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs552811662	chr6:149654309-149654310	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs560076540	chr6:149654318-149654319	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs528827397	chr6:149654341-149654342	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs548144052	chr6:149654412-149654413	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs567932812	chr6:149654418-149654419	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs185963696	chr6:149654443-149654444	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs72999878	chr6:149654470-149654471	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs116699218	chr6:149654483-149654484	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs537698743	chr6:149654537-149654538	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs373030968	chr6:149654586-149654587	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs570223011	chr6:149654646-149654647	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs531704642	chr6:149654653-149654654	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs114268720	chr6:149654689-149654690	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs191882540	chr6:149654707-149654708	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs573071146	chr6:149654733-149654734	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs535418225	chr6:149654743-149654744	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs115664738	chr6:149654762-149654763	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs201734926	chr6:149654844-149654845	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs200533000	chr6:149654845-149654846	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs61004397	chr6:149654879-149654880	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs501926	chr6:149654948-149654949	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs147946059	chr6:149654987-149654988	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs543841199	chr6:149655008-149655009	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs563731362	chr6:149655011-149655012	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs374367433	chr6:149655078-149655079	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs138982767	chr6:149655086-149655087	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs571313376	chr6:149655095-149655096	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	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
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
Breast cancer	22522925	CNVD

Chromatin state (count:391 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149640200-149655400	Weak transcription	Esophagus	oesophagus
2	chr6:149640200-149655600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:149641200-149657400	Weak transcription	Aorta	Aorta
4	chr6:149641200-149681400	Weak transcription	Fetal Stomach	stomach
5	chr6:149641400-149655600	Weak transcription	Placenta	Placenta
6	chr6:149641600-149656000	Weak transcription	Lung	lung
7	chr6:149641600-149660200	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr6:149641800-149660200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr6:149642600-149657200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr6:149645000-149666400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr6:149646200-149654400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr6:149646200-149657400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr6:149647200-149654400	Weak transcription	Ovary	ovary
14	chr6:149647200-149655400	Weak transcription	Pancreas	Pancrea
15	chr6:149648400-149660600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:149648600-149654600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr6:149648600-149655000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr6:149648600-149655200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr6:149648600-149656600	Enhancers	Fetal Heart	heart
20	chr6:149648600-149659200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr6:149648600-149659600	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr6:149648800-149656000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr6:149649000-149657200	Weak transcription	Fetal Intestine Large	intestine
24	chr6:149649000-149660200	Weak transcription	Fetal Intestine Small	intestine
25	chr6:149649200-149654200	Weak transcription	Fetal Kidney	kidney
26	chr6:149649200-149654600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr6:149649200-149657200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr6:149649400-149659000	Enhancers	Primary T cells from cord blood	blood
29	chr6:149649400-149689400	Weak transcription	Fetal Brain Female	brain
30	chr6:149649600-149654200	Weak transcription	Right Ventricle	heart
31	chr6:149649600-149654600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr6:149649800-149654200	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr6:149649800-149654200	Weak transcription	Right Atrium	heart
34	chr6:149649800-149655400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr6:149649800-149655400	Weak transcription	Left Ventricle	heart
36	chr6:149649800-149655600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr6:149649800-149660200	Weak transcription	Gastric	stomach
38	chr6:149650600-149656000	Weak transcription	Colonic Mucosa	Colon
39	chr6:149650800-149654200	Weak transcription	Psoas Muscle	Psoas
40	chr6:149650800-149654200	Weak transcription	K562	blood
41	chr6:149650800-149655400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr6:149650800-149655400	Weak transcription	Spleen	Spleen
43	chr6:149650800-149655600	Weak transcription	Fetal Thymus	thymus
44	chr6:149650800-149655600	Weak transcription	Thymus	Thymus
45	chr6:149650800-149657400	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr6:149651000-149654600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:149651400-149660000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:149651400-149660000	Enhancers	Liver	Liver
49	chr6:149651600-149654200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr6:149651600-149655000	Weak transcription	Placenta Amnion	Placenta Amnion

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