Variant report

Variant	nsv520292
Chromosome Location	chr6:164174617-164190919
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:11)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:164178512..164183327-chr6:164184288..164188276,4	K562	blood:
2	chr6:164188709..164190897-chr6:164199271..164201440,2	K562	blood:
3	chr6:164187913..164189923-chr6:164191758..164194024,2	K562	blood:
4	chr6:164175564..164177947-chr6:164179565..164181810,3	K562	blood:
5	chr6:164178512..164183327-chr6:164184288..164188276,4	K562	blood:
6	chr6:164174908..164178148-chr6:164180310..164183419,3	K562	blood:
7	chr6:164175564..164177947-chr6:164179565..164181810,3	K562	blood:
8	chr6:164182971..164185942-chr6:164192050..164193651,2	K562	blood:
9	chr6:164174908..164178148-chr6:164180310..164183419,3	K562	blood:
10	chr6:164187135..164189923-chr6:164191237..164194024,3	K562	blood:
11	chr6:164188867..164191090-chr6:164195583..164198565,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-QKI-2	chr6:164180252-164180461	NONHSAT115976
2	lnc-QKI-2	chr6:164180257-164180873	XLOC_005531
3	lnc-QKI-2	chr6:164180257-164180397	XLOC_005531
4	lnc-QKI-2	chr6:164180257-164180420	XLOC_005531

No data

Variant related genes	Relation type
BCL2L11	miRNA target sites
CDKN1B	miRNA target sites

Extended variants
information (count: 697 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:697 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6932044	chr6:164174617-164174618	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75456701	chr6:164174624-164174625	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs543286386	chr6:164174649-164174650	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs73019106	chr6:164174660-164174661	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs529195035	chr6:164174701-164174702	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs542906892	chr6:164174708-164174709	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs369553825	chr6:164174721-164174722	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs192944200	chr6:164174726-164174727	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs528042657	chr6:164174744-164174745	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs553269034	chr6:164174749-164174750	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs565016610	chr6:164174777-164174778	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs575126150	chr6:164174805-164174806	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs139822731	chr6:164174825-164174826	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs78872507	chr6:164174849-164174850	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs563965236	chr6:164174886-164174887	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs570205296	chr6:164174905-164174906	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs535790610	chr6:164174906-164174907	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs372907329	chr6:164174964-164174965	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs141507310	chr6:164174988-164174989	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs565739380	chr6:164175034-164175035	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs534737248	chr6:164175094-164175095	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs557714524	chr6:164175095-164175096	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs578054410	chr6:164175111-164175112	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs537522944	chr6:164175121-164175122	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs575237213	chr6:164175126-164175127	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs556890512	chr6:164175160-164175161	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs60120666	chr6:164175161-164175162	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs542943710	chr6:164175166-164175167	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs148426519	chr6:164175183-164175184	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs574610619	chr6:164175188-164175189	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs573169106	chr6:164175195-164175196	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs200298371	chr6:164175203-164175204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545059969	chr6:164175243-164175244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564878623	chr6:164175246-164175247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184688395	chr6:164175254-164175255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189609038	chr6:164175294-164175295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563741230	chr6:164175311-164175312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142947175	chr6:164175313-164175314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549162944	chr6:164175335-164175336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78602751	chr6:164175339-164175340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs151092767	chr6:164175349-164175350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181323664	chr6:164175355-164175356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551383102	chr6:164175366-164175367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369003841	chr6:164175381-164175382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537156211	chr6:164175382-164175383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs4709013	chr6:164175415-164175416	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs574043676	chr6:164175485-164175486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544538903	chr6:164175492-164175493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs386708171	chr6:164175493-164175494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552294405	chr6:164175494-164175495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164163200-164178400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:164167800-164177200	Weak transcription	HSMM	muscle
3	chr6:164171800-164174800	Weak transcription	Brain Hippocampus Middle	brain
4	chr6:164171800-164174800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr6:164171800-164176600	Weak transcription	Primary T cells from cord blood	blood
6	chr6:164172200-164185800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:164172400-164175000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr6:164172400-164176200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr6:164172400-164180400	Weak transcription	K562	blood
10	chr6:164172600-164178400	Weak transcription	Right Atrium	heart
11	chr6:164172800-164174800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr6:164172800-164176200	Weak transcription	Primary B cells from cord blood	blood
13	chr6:164173400-164174800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr6:164173400-164178400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr6:164174600-164175200	ZNF genes & repeats	Fetal Muscle Leg	muscle
16	chr6:164174800-164175000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
17	chr6:164174800-164175000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
18	chr6:164174800-164175600	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr6:164174800-164179200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr6:164175000-164175400	Weak transcription	Left Ventricle	heart
21	chr6:164175000-164179600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr6:164175200-164176000	Weak transcription	Fetal Muscle Leg	muscle
23	chr6:164175600-164177200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr6:164176000-164176600	Enhancers	Spleen	Spleen
25	chr6:164176000-164177800	Enhancers	Fetal Muscle Leg	muscle
26	chr6:164176000-164179200	Enhancers	Primary B cells from peripheral blood	blood
27	chr6:164176200-164178200	Enhancers	GM12878-XiMat	blood
28	chr6:164176200-164178800	Enhancers	Primary B cells from cord blood	blood
29	chr6:164176200-164179000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr6:164176600-164178000	Enhancers	Primary T cells from cord blood	blood
31	chr6:164176600-164178400	Weak transcription	Left Ventricle	heart
32	chr6:164176800-164178800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr6:164177200-164177600	Enhancers	HSMM	muscle
34	chr6:164177200-164178000	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr6:164177600-164182200	Weak transcription	HSMM	muscle
36	chr6:164177800-164178600	Weak transcription	Fetal Muscle Leg	muscle
37	chr6:164178000-164178800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr6:164178200-164178800	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr6:164178400-164178600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr6:164178400-164178600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:164178400-164178600	Enhancers	Left Ventricle	heart
42	chr6:164178400-164178600	Enhancers	Right Atrium	heart
43	chr6:164178400-164179000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr6:164178400-164179200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr6:164178400-164179200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr6:164178400-164179200	Enhancers	H9 Cell Line	embryonic stem cell
47	chr6:164178400-164179200	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr6:164178400-164179200	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr6:164178400-164179200	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr6:164178400-164179200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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