Variant report

Variant	nsv481645
Chromosome Location	chr6:162554793-162779785
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	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
3	chr6:162763017..162765353-chr6:162767098..162769301,2	K562	blood:
4	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
5	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
6	chr6:162671180..162673472-chr6:162808694..162811227,2	K562	blood:
7	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
8	chr6:162763017..162765353-chr6:162767098..162769301,2	K562	blood:
9	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
10	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
11	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
12	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
13	chr6:162768506..162770213-chr6:162786241..162788330,2	K562	blood:
14	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
15	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
16	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
17	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
18	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
19	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
20	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
21	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
22	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:

No data

Extended variants
information (count: 9245 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:9245 , 50 per page) page: 1 2 3 4 5 6 7 ... 185

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112702939	chr6:162556632-162556633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189288192	chr6:162556671-162556672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568756587	chr6:162556695-162556696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116086562	chr6:162556752-162556753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547403855	chr6:162556778-162556779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570444895	chr6:162556785-162556786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs58191110	chr6:162557426-162557427	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs528028952	chr6:162557490-162557491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571135248	chr6:162557505-162557506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77832435	chr6:162557529-162557530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186244062	chr6:162557532-162557533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555042819	chr6:162557535-162557536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190567933	chr6:162557549-162557550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146711797	chr6:162557566-162557567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569796717	chr6:162557568-162557569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140427803	chr6:162557649-162557650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12193568	chr6:162557719-162557720	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs57106135	chr6:162557741-162557742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7753654	chr6:162557781-162557782	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs566562764	chr6:162560623-162560624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181381414	chr6:162560685-162560686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76842557	chr6:162560691-162560692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139338213	chr6:162560706-162560707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185606958	chr6:162560730-162560731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111844828	chr6:162560752-162560753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572716376	chr6:162560764-162560765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112601031	chr6:162560776-162560777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558207696	chr6:162560809-162560810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112989730	chr6:162560820-162560821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188556273	chr6:162560845-162560846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575029570	chr6:162560856-162560857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112480219	chr6:162560909-162560910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79585060	chr6:162560922-162560923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35011084	chr6:162560923-162560924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76938007	chr6:162560924-162560925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs397797828	chr6:162560937-162560938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374956291	chr6:162560956-162560957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146530867	chr6:162560976-162560977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117823791	chr6:162560992-162560993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574585679	chr6:162561018-162561019	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs540122762	chr6:162561024-162561025	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs377373459	chr6:162561036-162561037	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs116118849	chr6:162561068-162561069	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs550454100	chr6:162561123-162561124	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs181649289	chr6:162561138-162561139	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs576995643	chr6:162561154-162561155	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs114809812	chr6:162561183-162561184	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs531072826	chr6:162561201-162561202	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs139615657	chr6:162561213-162561214	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs567712617	chr6:162561214-162561215	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Parkinson disease	21829596	CNVD
Schizophrenia	23813976	CNVD
Gastric cancer	22315472	CNVD
Autism	19404257	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

Chromatin state (count:647 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162556600-162556800	Enhancers	Psoas Muscle	Psoas
2	chr6:162557400-162557800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:162560600-162561000	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr6:162560600-162562200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr6:162560600-162572000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr6:162561000-162561800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr6:162561800-162562000	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr6:162562800-162563400	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr6:162563200-162563400	ZNF genes & repeats	Aorta	Aorta
10	chr6:162563200-162563400	Enhancers	Psoas Muscle	Psoas
11	chr6:162563400-162571400	Weak transcription	Psoas Muscle	Psoas
12	chr6:162563400-162574200	Weak transcription	Aorta	Aorta
13	chr6:162570600-162571000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr6:162570600-162571000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:162570600-162571200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr6:162570600-162571200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr6:162570600-162571400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr6:162570600-162571400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr6:162570600-162571400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr6:162570600-162571800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr6:162570800-162573600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr6:162571000-162571600	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr6:162571200-162573200	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr6:162571400-162571600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:162571400-162571600	Enhancers	Psoas Muscle	Psoas
26	chr6:162571600-162572000	Weak transcription	Psoas Muscle	Psoas
27	chr6:162571600-162572000	Enhancers	NH-A	brain
28	chr6:162571600-162572600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr6:162571600-162572800	Enhancers	HSMMtube	muscle
30	chr6:162571600-162573200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:162571800-162572000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr6:162571800-162572000	Enhancers	HSMM	muscle
33	chr6:162571800-162572600	Enhancers	Adipose Nuclei	Adipose
34	chr6:162571800-162572800	Enhancers	Primary hematopoietic stem cells	blood
35	chr6:162572000-162572400	Enhancers	Psoas Muscle	Psoas
36	chr6:162572000-162572400	Flanking Active TSS	HSMM	muscle
37	chr6:162572000-162572400	Flanking Active TSS	NH-A	brain
38	chr6:162572000-162572600	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr6:162572000-162572800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr6:162572200-162572400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr6:162572200-162572400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:162572200-162572400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr6:162572200-162572400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr6:162572200-162573400	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr6:162572400-162572600	Enhancers	HSMM	muscle
46	chr6:162572400-162572600	Enhancers	NH-A	brain
47	chr6:162572400-162577800	Weak transcription	Psoas Muscle	Psoas
48	chr6:162572400-162578200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr6:162572600-162572800	Flanking Active TSS	HSMM	muscle
50	chr6:162572600-162573400	Enhancers	Monocytes-CD14+_RO01746	blood

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