Variant report

Variant	esv3442319
Chromosome Location	chr6:164084362-164088660
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:164081712..164084743-chr6:164086465..164089589,3	K562	blood:
2	chr6:164081712..164084743-chr6:164086465..164089589,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL078585.1-5	chr6:164085403-164085689	XLOC_005912

Extended variants
information (count: 189 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:189 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549904770	chr6:164084362-164084363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571418453	chr6:164084383-164084384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566017782	chr6:164084390-164084391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150346309	chr6:164084421-164084422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551346883	chr6:164084442-164084443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7742763	chr6:164084488-164084489	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs536715587	chr6:164084492-164084493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116644777	chr6:164084493-164084494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576539511	chr6:164084532-164084533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536095225	chr6:164084542-164084543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs58250488	chr6:164084569-164084570	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs376599893	chr6:164084604-164084605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11433456	chr6:164084606-164084607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs397952787	chr6:164084609-164084610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78412747	chr6:164084610-164084611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533190909	chr6:164084661-164084662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs4709737	chr6:164084671-164084672	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs569859184	chr6:164084694-164084695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184607476	chr6:164084724-164084725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543529090	chr6:164084740-164084741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530985679	chr6:164084766-164084767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563851171	chr6:164084791-164084792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188347211	chr6:164084795-164084796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542764797	chr6:164084831-164084832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549318588	chr6:164084863-164084864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs59673655	chr6:164084891-164084892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528364315	chr6:164084912-164084913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551718324	chr6:164084924-164084925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571250020	chr6:164084964-164084965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79221753	chr6:164084965-164084966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35714954	chr6:164084997-164084998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550402351	chr6:164085017-164085018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567810014	chr6:164085048-164085049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535029506	chr6:164085102-164085103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs79774874	chr6:164085160-164085161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535975981	chr6:164085198-164085199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114754837	chr6:164085244-164085245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565955117	chr6:164085255-164085256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534969984	chr6:164085319-164085320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553729997	chr6:164085325-164085326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73786558	chr6:164085340-164085341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115323844	chr6:164085380-164085381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192140489	chr6:164085390-164085391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs557085814	chr6:164085400-164085401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143050522	chr6:164085411-164085412	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs543163110	chr6:164085412-164085413	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs559552199	chr6:164085430-164085431	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs528331627	chr6:164085436-164085437	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs184508568	chr6:164085443-164085444	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs571953104	chr6:164085492-164085493	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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	17122850	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164057200-164092400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:164081600-164085400	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr6:164082200-164085200	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr6:164082600-164087600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:164082800-164085000	Weak transcription	Psoas Muscle	Psoas
6	chr6:164082800-164085000	Weak transcription	Right Atrium	heart
7	chr6:164083000-164084800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr6:164083000-164084800	Weak transcription	Left Ventricle	heart
9	chr6:164083000-164087000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr6:164083000-164087800	Weak transcription	Brain Angular Gyrus	brain
11	chr6:164083000-164087800	Weak transcription	Brain Anterior Caudate	brain
12	chr6:164083000-164087800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr6:164083000-164088200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:164083000-164088200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:164083200-164085600	Weak transcription	Brain Germinal Matrix	brain
16	chr6:164083200-164087200	Weak transcription	Primary B cells from cord blood	blood
17	chr6:164083200-164088000	Weak transcription	Brain Hippocampus Middle	brain
18	chr6:164083200-164088400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr6:164083400-164087800	Weak transcription	GM12878-XiMat	blood
20	chr6:164083600-164086200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr6:164083800-164088000	Weak transcription	Brain Substantia Nigra	brain
22	chr6:164084000-164086400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr6:164084200-164084800	Enhancers	Fetal Muscle Trunk	muscle
24	chr6:164084200-164086400	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr6:164084400-164088000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:164084800-164085200	Enhancers	Left Ventricle	heart
27	chr6:164084800-164087800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr6:164085000-164085200	Enhancers	Right Atrium	heart
29	chr6:164085000-164085400	Enhancers	Psoas Muscle	Psoas
30	chr6:164085200-164087800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr6:164085400-164088200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr6:164085600-164092000	Enhancers	Brain Germinal Matrix	brain
33	chr6:164086200-164086400	Enhancers	Fetal Brain Male	brain
34	chr6:164086200-164092800	Enhancers	Primary B cells from peripheral blood	blood
35	chr6:164086400-164086600	Enhancers	Gastric	stomach
36	chr6:164086400-164086800	Flanking Active TSS	Fetal Brain Male	brain
37	chr6:164086400-164086800	Active TSS	Fetal Kidney	kidney
38	chr6:164086400-164087200	Enhancers	Fetal Lung	lung
39	chr6:164086400-164087800	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr6:164086400-164091000	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr6:164086800-164089200	Weak transcription	Fetal Kidney	kidney
42	chr6:164086800-164089600	Enhancers	Fetal Brain Male	brain
43	chr6:164087000-164087400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:164087000-164088400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:164087000-164088600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr6:164087000-164089400	Enhancers	Fetal Muscle Leg	muscle
47	chr6:164087000-164089800	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr6:164087200-164087600	Weak transcription	Fetal Lung	lung
49	chr6:164087200-164088600	Enhancers	Primary B cells from cord blood	blood
50	chr6:164087400-164087600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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