Variant report

Variant	esv3432872
Chromosome Location	chr6:164085162-164087960
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:

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

Extended variants
information (count: 122 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535975981	chr6:164085198-164085199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114754837	chr6:164085244-164085245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565955117	chr6:164085255-164085256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534969984	chr6:164085319-164085320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553729997	chr6:164085325-164085326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73786558	chr6:164085340-164085341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115323844	chr6:164085380-164085381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192140489	chr6:164085390-164085391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557085814	chr6:164085400-164085401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143050522	chr6:164085411-164085412	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs543163110	chr6:164085412-164085413	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs559552199	chr6:164085430-164085431	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs528331627	chr6:164085436-164085437	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs184508568	chr6:164085443-164085444	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs571953104	chr6:164085492-164085493	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs565227458	chr6:164085515-164085516	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs539479512	chr6:164085542-164085543	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs138660870	chr6:164085543-164085544	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs567156072	chr6:164085549-164085550	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs529768216	chr6:164085554-164085555	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs546322847	chr6:164085566-164085567	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs565911647	chr6:164085617-164085618	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs534933656	chr6:164085626-164085627	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs558019624	chr6:164085653-164085654	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs370073011	chr6:164085683-164085684	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs7765419	chr6:164085684-164085685	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs142680651	chr6:164085702-164085703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555640002	chr6:164085783-164085784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573964407	chr6:164085803-164085804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113858400	chr6:164085804-164085805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147382057	chr6:164085844-164085845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553534504	chr6:164085845-164085846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139540863	chr6:164085850-164085851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188433570	chr6:164085854-164085855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111551766	chr6:164085878-164085879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564942957	chr6:164085889-164085890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575448909	chr6:164085913-164085914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7767021	chr6:164085921-164085922	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs141960879	chr6:164085949-164085950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150665936	chr6:164086010-164086011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140029772	chr6:164086024-164086025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77589076	chr6:164086053-164086054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532086773	chr6:164086072-164086073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145841904	chr6:164086086-164086087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139539763	chr6:164086280-164086281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537713138	chr6:164086335-164086336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551022619	chr6:164086359-164086360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs202202868	chr6:164086362-164086363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs58650822	chr6:164086363-164086364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7767804	chr6:164086383-164086384	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:60 , 50 per page) page: 1 2

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	chr6:164083000-164087000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:164083000-164087800	Weak transcription	Brain Angular Gyrus	brain
7	chr6:164083000-164087800	Weak transcription	Brain Anterior Caudate	brain
8	chr6:164083000-164087800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr6:164083000-164088200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:164083000-164088200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:164083200-164085600	Weak transcription	Brain Germinal Matrix	brain
12	chr6:164083200-164087200	Weak transcription	Primary B cells from cord blood	blood
13	chr6:164083200-164088000	Weak transcription	Brain Hippocampus Middle	brain
14	chr6:164083200-164088400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr6:164083400-164087800	Weak transcription	GM12878-XiMat	blood
16	chr6:164083600-164086200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr6:164083800-164088000	Weak transcription	Brain Substantia Nigra	brain
18	chr6:164084000-164086400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr6:164084200-164086400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr6:164084400-164088000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:164084800-164085200	Enhancers	Left Ventricle	heart
22	chr6:164084800-164087800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr6:164085000-164085200	Enhancers	Right Atrium	heart
24	chr6:164085000-164085400	Enhancers	Psoas Muscle	Psoas
25	chr6:164085200-164087800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr6:164085400-164088200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr6:164085600-164092000	Enhancers	Brain Germinal Matrix	brain
28	chr6:164086200-164086400	Enhancers	Fetal Brain Male	brain
29	chr6:164086200-164092800	Enhancers	Primary B cells from peripheral blood	blood
30	chr6:164086400-164086600	Enhancers	Gastric	stomach
31	chr6:164086400-164086800	Flanking Active TSS	Fetal Brain Male	brain
32	chr6:164086400-164086800	Active TSS	Fetal Kidney	kidney
33	chr6:164086400-164087200	Enhancers	Fetal Lung	lung
34	chr6:164086400-164087800	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr6:164086400-164091000	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr6:164086800-164089200	Weak transcription	Fetal Kidney	kidney
37	chr6:164086800-164089600	Enhancers	Fetal Brain Male	brain
38	chr6:164087000-164087400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr6:164087000-164088400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:164087000-164088600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr6:164087000-164089400	Enhancers	Fetal Muscle Leg	muscle
42	chr6:164087000-164089800	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr6:164087200-164087600	Weak transcription	Fetal Lung	lung
44	chr6:164087200-164088600	Enhancers	Primary B cells from cord blood	blood
45	chr6:164087400-164087600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr6:164087600-164088200	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr6:164087600-164088400	Enhancers	Fetal Lung	lung
48	chr6:164087600-164089800	Enhancers	Primary hematopoietic stem cells	blood
49	chr6:164087600-164090200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr6:164087800-164088000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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