Variant report

Variant	nsv886840
Chromosome Location	chr6:162317269-162511254
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162350457..162353351-chr6:162353923..162356207,2	K562	blood:
2	chr6:162400767..162402435-chr6:162406575..162409112,2	K562	blood:
3	chr6:162397480..162399223-chr6:162401761..162404565,2	K562	blood:
4	chr6:162470841..162473078-chr6:162475586..162477804,2	MCF-7	breast:
5	chr6:162380873..162382939-chr6:162388150..162390123,2	K562	blood:
6	chr6:162372183..162373880-chr6:162375416..162378006,2	K562	blood:
7	chr6:162470841..162473078-chr6:162475586..162477804,2	MCF-7	breast:
8	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
9	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
10	chr6:162347118..162349182-chr6:162351860..162355211,3	K562	blood:
11	chr6:162347118..162349182-chr6:162351860..162355211,3	K562	blood:
12	chr6:162380873..162382939-chr6:162388150..162390123,2	K562	blood:
13	chr6:162313026..162315357-chr6:162317264..162319780,2	K562	blood:
14	chr6:162258117..162258784-chr6:162338530..162339165,2	MCF-7	breast:
15	chr6:162372183..162373880-chr6:162375416..162378006,2	K562	blood:
16	chr6:162397480..162399223-chr6:162401761..162404565,2	K562	blood:
17	chr6:162350457..162353351-chr6:162353923..162356207,2	K562	blood:
18	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
19	chr6:162400767..162402435-chr6:162406575..162409112,2	K562	blood:

No data

Extended variants
information (count: 6731 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:6731 , 50 per page) page: 1 2 3 4 5 6 7 ... 135

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9458413	chr6:162317269-162317270	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528216412	chr6:162317298-162317299	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551560636	chr6:162317326-162317327	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563912039	chr6:162317331-162317332	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565076285	chr6:162317371-162317372	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530797965	chr6:162317390-162317391	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534669591	chr6:162317451-162317452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111431390	chr6:162317454-162317455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550909043	chr6:162317463-162317464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567481173	chr6:162317464-162317465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577443288	chr6:162317467-162317468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535816672	chr6:162317506-162317507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73604823	chr6:162317507-162317508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs140552643	chr6:162317559-162317560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534798224	chr6:162317573-162317574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557904628	chr6:162317614-162317615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs193230611	chr6:162317637-162317638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115357871	chr6:162317657-162317658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557611391	chr6:162317661-162317662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574299966	chr6:162317712-162317713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185437817	chr6:162317715-162317716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189509593	chr6:162317720-162317721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs180693375	chr6:162317724-162317725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572927432	chr6:162317760-162317761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376343589	chr6:162317851-162317852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185668928	chr6:162317898-162317899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546242899	chr6:162317931-162317932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565037423	chr6:162317932-162317933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530707013	chr6:162317961-162317962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568079079	chr6:162317962-162317963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544101488	chr6:162317971-162317972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561231263	chr6:162318007-162318008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150025968	chr6:162318017-162318018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539659441	chr6:162318055-162318056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549315085	chr6:162318089-162318090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375725030	chr6:162318092-162318093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs74721013	chr6:162318113-162318114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553124078	chr6:162318130-162318131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551448585	chr6:162318135-162318136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571436299	chr6:162318148-162318149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs117036917	chr6:162318178-162318179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114287791	chr6:162318208-162318209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147717636	chr6:162318225-162318226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536546457	chr6:162318258-162318259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7747093	chr6:162318266-162318267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146898657	chr6:162318346-162318347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139071708	chr6:162318359-162318360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558660975	chr6:162318372-162318373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544170188	chr6:162318394-162318395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6455782	chr6:162318396-162318397	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:100)

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
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
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
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20838587	CNVD
Early-onset parkinson disease	21993715	CNVD
Glioblastoma	18772890	CNVD
Pancreatic cancer	20981101	CNVD
Autism	21360662	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD
Parkinson disease	0	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
early-passage human iPS cells	21368824	CNVD
Parkinson disease	21829596	CNVD

Chromatin state (count:495 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162310000-162327200	Weak transcription	Right Ventricle	heart
2	chr6:162316000-162317400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:162316000-162318200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr6:162316200-162322600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr6:162317200-162317400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
6	chr6:162318200-162322600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr6:162322600-162323000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr6:162322600-162323200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr6:162322800-162323200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:162322800-162323200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:162322800-162323200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:162322800-162323400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:162322800-162323400	Enhancers	Fetal Stomach	stomach
14	chr6:162322800-162323600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:162323000-162323400	Enhancers	H1 Cell Line	embryonic stem cell
16	chr6:162323200-162325800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr6:162323600-162324200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:162324000-162324200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr6:162324200-162324400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:162324200-162329800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr6:162324800-162325000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:162325000-162325200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:162325200-162327200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:162325800-162326000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr6:162326000-162329800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr6:162327000-162328200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr6:162327200-162328200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:162327400-162328000	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr6:162327400-162328200	Enhancers	Primary hematopoietic stem cells	blood
30	chr6:162329800-162330200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr6:162329800-162330400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr6:162329800-162330600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr6:162329800-162330800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr6:162330000-162330400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr6:162330200-162330400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr6:162330200-162333200	Weak transcription	Psoas Muscle	Psoas
37	chr6:162330400-162331800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:162330400-162338800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr6:162332200-162332400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr6:162336200-162343400	Weak transcription	Fetal Heart	heart
41	chr6:162336200-162357200	Weak transcription	Aorta	Aorta
42	chr6:162338600-162338800	Enhancers	NH-A	brain
43	chr6:162338600-162339000	Enhancers	A549	lung
44	chr6:162338600-162339200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr6:162338600-162339200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr6:162338600-162339800	Enhancers	Brain Germinal Matrix	brain
47	chr6:162338800-162339000	Active TSS	Hela-S3	cervix
48	chr6:162338800-162339400	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr6:162338800-162340000	Flanking Active TSS	NH-A	brain
50	chr6:162339000-162339400	Flanking Active TSS	A549	lung

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