Variant report

Variant	nsv464096
Chromosome Location	chr6:162619986-162889975
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
2	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
3	chr6:162671180..162673472-chr6:162808694..162811227,2	K562	blood:
4	chr6:162799485..162803733-chr6:162804296..162807777,5	K562	blood:
5	chr6:162763017..162765353-chr6:162767098..162769301,2	K562	blood:
6	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
7	chr6:162763017..162765353-chr6:162767098..162769301,2	K562	blood:
8	chr6:162768506..162770213-chr6:162786241..162788330,2	K562	blood:
9	chr6:162671180..162673472-chr6:162808694..162811227,2	K562	blood:
10	chr6:162863367..162864320-chr6:163157771..163158572,4	MCF-7	breast:
11	chr6:162863816..162864618-chr6:163271757..163272511,2	MCF-7	breast:
12	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
13	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
14	chr6:162768506..162770213-chr6:162786241..162788330,2	K562	blood:
15	chr6:162799485..162803733-chr6:162804296..162807777,5	K562	blood:
16	chr6:162820265..162823089-chr6:162827852..162829559,2	K562	blood:
17	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
18	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
19	chr6:162820265..162823089-chr6:162827852..162829559,2	K562	blood:
20	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
21	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
22	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:

No data

Extended variants
information (count: 11274 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:11274 , 50 per page) page: 1 2 3 4 5 6 7 ... 226

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10455789	chr6:162619986-162619987	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs183715339	chr6:162619993-162619994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563567062	chr6:162620025-162620026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576543842	chr6:162620040-162620041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186720210	chr6:162620048-162620049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147321167	chr6:162620073-162620074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527752332	chr6:162620128-162620129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140738754	chr6:162620151-162620152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564656874	chr6:162620155-162620156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533339393	chr6:162620216-162620217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142992505	chr6:162620230-162620231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192499590	chr6:162620231-162620232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34978700	chr6:162620249-162620250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs398066463	chr6:162620260-162620261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs397973142	chr6:162620261-162620262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573054432	chr6:162620274-162620275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183301969	chr6:162620354-162620355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535102719	chr6:162620390-162620391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147493859	chr6:162620502-162620503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565645546	chr6:162620541-162620542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534664612	chr6:162620589-162620590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557561993	chr6:162620591-162620592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566823990	chr6:162620625-162620626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537229871	chr6:162620654-162620655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs75341114	chr6:162620656-162620657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76769035	chr6:162620690-162620691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149719704	chr6:162620691-162620692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562074242	chr6:162620728-162620729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145548168	chr6:162620789-162620790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541561782	chr6:162620796-162620797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564407211	chr6:162620799-162620800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148451712	chr6:162620822-162620823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549933613	chr6:162620823-162620824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563652325	chr6:162620845-162620846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529501160	chr6:162620846-162620847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186921988	chr6:162620859-162620860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377297745	chr6:162620891-162620892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534317203	chr6:162620898-162620899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191487295	chr6:162620924-162620925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182160753	chr6:162620935-162620936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537267103	chr6:162620957-162620958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188272248	chr6:162620958-162620959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567575983	chr6:162620966-162620967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555992946	chr6:162620967-162620968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536501818	chr6:162620975-162620976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561217784	chr6:162621002-162621003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142720391	chr6:162621006-162621007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146516193	chr6:162621040-162621041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541044016	chr6:162621072-162621073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73020759	chr6:162621102-162621103	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:104)

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
Parkinson disease	0	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Parkinson disease	21829596	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Autism	22495309	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
Schizophrenia	19805367	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:859 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162605800-162624200	Weak transcription	Pancreas	Pancrea
2	chr6:162609600-162622000	Weak transcription	Left Ventricle	heart
3	chr6:162609600-162622400	Weak transcription	Psoas Muscle	Psoas
4	chr6:162613000-162621600	Weak transcription	Spleen	Spleen
5	chr6:162613000-162622000	Weak transcription	Right Atrium	heart
6	chr6:162617200-162621800	Weak transcription	Fetal Heart	heart
7	chr6:162619200-162622000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr6:162619800-162620000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr6:162620600-162620800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:162620800-162621400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:162620800-162623000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:162620800-162623000	Enhancers	Adipose Nuclei	Adipose
13	chr6:162621000-162622800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr6:162621200-162622200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr6:162621600-162622000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:162621600-162622400	Enhancers	Fetal Stomach	stomach
17	chr6:162621800-162622200	Enhancers	Fetal Kidney	kidney
18	chr6:162621800-162623000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:162621800-162623000	Enhancers	Fetal Heart	heart
20	chr6:162622000-162622200	Enhancers	Right Ventricle	heart
21	chr6:162622000-162622400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr6:162622000-162622400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:162622000-162622400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr6:162622000-162622400	Enhancers	Fetal Brain Male	brain
25	chr6:162622000-162622400	Enhancers	Left Ventricle	heart
26	chr6:162622000-162622400	Enhancers	Rectal Smooth Muscle	rectum
27	chr6:162622000-162622400	Enhancers	Right Atrium	heart
28	chr6:162622000-162622400	Active TSS	Stomach Smooth Muscle	stomach
29	chr6:162622000-162622600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr6:162622000-162623000	Enhancers	Colon Smooth Muscle	Colon
31	chr6:162622200-162622800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr6:162622400-162622600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:162622400-162622800	Enhancers	Psoas Muscle	Psoas
34	chr6:162622400-162624200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr6:162622400-162624400	Weak transcription	Aorta	Aorta
36	chr6:162622400-162624400	Weak transcription	Fetal Stomach	stomach
37	chr6:162622400-162632000	Weak transcription	Left Ventricle	heart
38	chr6:162622400-162636000	Weak transcription	Right Atrium	heart
39	chr6:162622600-162623000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:162622800-162623000	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr6:162622800-162624200	Weak transcription	Psoas Muscle	Psoas
42	chr6:162622800-162624200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr6:162623000-162623200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:162623000-162624000	Weak transcription	Fetal Heart	heart
45	chr6:162623000-162624200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr6:162623000-162624400	Weak transcription	Colon Smooth Muscle	Colon
47	chr6:162623200-162624400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:162623600-162624800	Enhancers	Fetal Lung	lung
49	chr6:162624000-162625200	Enhancers	Fetal Heart	heart
50	chr6:162624200-162624400	Enhancers	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links