Variant report

Variant	nsv1019066
Chromosome Location	chr6:162621987-162901598
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	chr6:162763017..162765353-chr6:162767098..162769301,2	K562	blood:
2	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
3	chr6:162671180..162673472-chr6:162808694..162811227,2	K562	blood:
4	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
5	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
6	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
7	chr6:162763017..162765353-chr6:162767098..162769301,2	K562	blood:
8	chr6:162820265..162823089-chr6:162827852..162829559,2	K562	blood:
9	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
10	chr6:162863367..162864320-chr6:163157771..163158572,4	MCF-7	breast:
11	chr6:162799485..162803733-chr6:162804296..162807777,5	K562	blood:
12	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
13	chr6:162863816..162864618-chr6:163271757..163272511,2	MCF-7	breast:
14	chr6:162820265..162823089-chr6:162827852..162829559,2	K562	blood:
15	chr6:162768506..162770213-chr6:162786241..162788330,2	K562	blood:
16	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
17	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
18	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
19	chr6:162768506..162770213-chr6:162786241..162788330,2	K562	blood:
20	chr6:162799485..162803733-chr6:162804296..162807777,5	K562	blood:
21	chr6:162671180..162673472-chr6:162808694..162811227,2	K562	blood:
22	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:

No data

Extended variants
information (count: 11771 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:11771 , 50 per page) page: 1 2 3 4 5 6 7 ... 236

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566767955	chr6:162622028-162622029	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs368358152	chr6:162622140-162622141	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs140590552	chr6:162622166-162622167	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs371512669	chr6:162622169-162622170	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs147121590	chr6:162622175-162622176	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs1801474	chr6:162622197-162622198	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs374988995	chr6:162622203-162622204	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs137853057	chr6:162622214-162622215	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs146547001	chr6:162622220-162622221	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs562500530	chr6:162622221-162622222	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs367631227	chr6:162622225-162622226	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs55654276	chr6:162622239-162622240	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs149379304	chr6:162622257-162622258	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs537030286	chr6:162622258-162622259	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs371890659	chr6:162622262-162622263	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs375835080	chr6:162622295-162622296	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs4709583	chr6:162622304-162622305	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs574023342	chr6:162622305-162622306	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs76574117	chr6:162622366-162622367	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs189965729	chr6:162622435-162622436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573485106	chr6:162622441-162622442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs41268563	chr6:162622455-162622456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565570542	chr6:162622546-162622547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79225289	chr6:162622550-162622551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149608240	chr6:162622565-162622566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184768100	chr6:162622595-162622596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75263798	chr6:162622597-162622598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146916302	chr6:162622626-162622627	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560133216	chr6:162622649-162622650	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7759069	chr6:162622661-162622662	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs552085902	chr6:162622736-162622737	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189224555	chr6:162622817-162622818	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10945803	chr6:162622828-162622829	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs550530179	chr6:162622866-162622867	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567762157	chr6:162622880-162622881	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112698719	chr6:162622932-162622933	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143009072	chr6:162622962-162622963	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147444717	chr6:162622963-162622964	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552265492	chr6:162622971-162622972	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539221436	chr6:162622974-162622975	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559312662	chr6:162623034-162623035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs180860066	chr6:162623080-162623081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544234628	chr6:162623099-162623100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6923402	chr6:162623101-162623102	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs537944764	chr6:162623191-162623192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574368835	chr6:162623203-162623204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6901583	chr6:162623220-162623221	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs531309780	chr6:162623234-162623235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6928213	chr6:162623236-162623237	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs535674854	chr6:162623245-162623246	Weak transcription	n/a	n/a	Overlapped CNVs	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:872 , 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	chr6:162613000-162622000	Weak transcription	Right Atrium	heart
5	chr6:162619200-162622000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr6:162620800-162623000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:162620800-162623000	Enhancers	Adipose Nuclei	Adipose
8	chr6:162621000-162622800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr6:162621200-162622200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr6:162621600-162622000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:162621600-162622400	Enhancers	Fetal Stomach	stomach
12	chr6:162621800-162622200	Enhancers	Fetal Kidney	kidney
13	chr6:162621800-162623000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:162621800-162623000	Enhancers	Fetal Heart	heart
15	chr6:162622000-162622200	Enhancers	Right Ventricle	heart
16	chr6:162622000-162622400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr6:162622000-162622400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:162622000-162622400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr6:162622000-162622400	Enhancers	Fetal Brain Male	brain
20	chr6:162622000-162622400	Enhancers	Left Ventricle	heart
21	chr6:162622000-162622400	Enhancers	Rectal Smooth Muscle	rectum
22	chr6:162622000-162622400	Enhancers	Right Atrium	heart
23	chr6:162622000-162622400	Active TSS	Stomach Smooth Muscle	stomach
24	chr6:162622000-162622600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr6:162622000-162623000	Enhancers	Colon Smooth Muscle	Colon
26	chr6:162622200-162622800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr6:162622400-162622600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:162622400-162622800	Enhancers	Psoas Muscle	Psoas
29	chr6:162622400-162624200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr6:162622400-162624400	Weak transcription	Aorta	Aorta
31	chr6:162622400-162624400	Weak transcription	Fetal Stomach	stomach
32	chr6:162622400-162632000	Weak transcription	Left Ventricle	heart
33	chr6:162622400-162636000	Weak transcription	Right Atrium	heart
34	chr6:162622600-162623000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:162622800-162623000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr6:162622800-162624200	Weak transcription	Psoas Muscle	Psoas
37	chr6:162622800-162624200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr6:162623000-162623200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:162623000-162624000	Weak transcription	Fetal Heart	heart
40	chr6:162623000-162624200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr6:162623000-162624400	Weak transcription	Colon Smooth Muscle	Colon
42	chr6:162623200-162624400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:162623600-162624800	Enhancers	Fetal Lung	lung
44	chr6:162624000-162625200	Enhancers	Fetal Heart	heart
45	chr6:162624200-162624400	Enhancers	Rectal Smooth Muscle	rectum
46	chr6:162624200-162624600	Enhancers	Ovary	ovary
47	chr6:162624200-162624600	Enhancers	Pancreas	Pancrea
48	chr6:162624200-162624800	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr6:162624200-162624800	Enhancers	Psoas Muscle	Psoas
50	chr6:162624200-162624800	Enhancers	Skeletal Muscle Male	skeletal muscle

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