Variant report

Variant	nsv522578
Chromosome Location	chr6:150868443-150873766
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	chr6:150863000..150865080-chr6:150869202..150870709,2	K562	blood:

Extended variants
information (count: 162 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:162 , 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	rs1492574	chr6:150868443-150868444	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs182702288	chr6:150868496-150868497	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs532841474	chr6:150868497-150868498	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs57863751	chr6:150868499-150868500	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs563953071	chr6:150868512-150868513	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs143517084	chr6:150868620-150868621	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs372972916	chr6:150868651-150868652	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs559507578	chr6:150868652-150868653	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs528167441	chr6:150868695-150868696	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs548173566	chr6:150868716-150868717	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs7774671	chr6:150868752-150868753	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs370660497	chr6:150868753-150868754	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs373192247	chr6:150868754-150868755	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs9480477	chr6:150868765-150868766	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs376363858	chr6:150868790-150868791	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs539263131	chr6:150868797-150868798	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs9372071	chr6:150868798-150868799	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs9372072	chr6:150868815-150868816	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs534753274	chr6:150868830-150868831	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs554988648	chr6:150868866-150868867	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs56021255	chr6:150868879-150868880	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs11963601	chr6:150868908-150868909	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs34393000	chr6:150868934-150868935	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs537695523	chr6:150868935-150868936	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs537776521	chr6:150868959-150868960	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs540050881	chr6:150868990-150868991	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs17079852	chr6:150868991-150868992	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs577579720	chr6:150868998-150868999	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs546442121	chr6:150868999-150869000	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs559942303	chr6:150869013-150869014	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs187318634	chr6:150869051-150869052	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs112122179	chr6:150869052-150869053	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs564897008	chr6:150869054-150869055	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs12196963	chr6:150869058-150869059	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs9371462	chr6:150869099-150869100	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs550513526	chr6:150869127-150869128	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs564059591	chr6:150869143-150869144	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs533030895	chr6:150869187-150869188	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs546406616	chr6:150869195-150869196	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs77821825	chr6:150869267-150869268	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs556687146	chr6:150869281-150869282	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs548390327	chr6:150869288-150869289	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs570077314	chr6:150869313-150869314	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs537060208	chr6:150869372-150869373	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs557274665	chr6:150869407-150869408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34263832	chr6:150869415-150869416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs397778094	chr6:150869416-150869417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs199772217	chr6:150869417-150869418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs200972200	chr6:150869423-150869424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577632034	chr6:150869446-150869447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Autism	21448237	CNVD
Autism	22495311	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
Follicular lymphoma	20505157	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
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150866200-150871000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:150867000-150869000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:150867000-150869200	Enhancers	Fetal Heart	heart
4	chr6:150867400-150868600	Bivalent Enhancer	HepG2	liver
5	chr6:150867400-150869000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:150867400-150869000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:150867400-150869000	Enhancers	Brain Substantia Nigra	brain
8	chr6:150867400-150869200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr6:150867400-150869200	Enhancers	Right Atrium	heart
10	chr6:150867400-150869400	Enhancers	Fetal Muscle Leg	muscle
11	chr6:150867400-150869400	Enhancers	Right Ventricle	heart
12	chr6:150867400-150869800	Enhancers	Fetal Kidney	kidney
13	chr6:150867600-150868800	Enhancers	Brain Angular Gyrus	brain
14	chr6:150867600-150869000	Enhancers	Brain Anterior Caudate	brain
15	chr6:150867600-150869000	Enhancers	Brain Germinal Matrix	brain
16	chr6:150867600-150869000	Enhancers	Fetal Muscle Trunk	muscle
17	chr6:150867600-150869000	Enhancers	Fetal Stomach	stomach
18	chr6:150867600-150869000	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr6:150867600-150869400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr6:150867600-150869600	Enhancers	Liver	Liver
21	chr6:150867600-150869600	Enhancers	Ovary	ovary
22	chr6:150867800-150868600	Enhancers	Brain Hippocampus Middle	brain
23	chr6:150867800-150869000	Enhancers	Left Ventricle	heart
24	chr6:150867800-150869200	Enhancers	Placenta	Placenta
25	chr6:150867800-150869400	Enhancers	Spleen	Spleen
26	chr6:150868000-150869000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:150868000-150869000	Enhancers	Adipose Nuclei	Adipose
28	chr6:150868000-150870200	Weak transcription	Lung	lung
29	chr6:150868000-150870800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:150868000-150871200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:150868200-150869200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr6:150868200-150869600	Enhancers	Fetal Intestine Small	intestine
33	chr6:150868400-150868600	Enhancers	Duodenum Mucosa	Duodenum
34	chr6:150868400-150868800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr6:150868400-150868800	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr6:150868400-150868800	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr6:150868400-150869000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr6:150868400-150869000	Enhancers	Fetal Lung	lung
39	chr6:150868600-150868800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
40	chr6:150868600-150868800	Enhancers	HepG2	liver
41	chr6:150868800-150869000	Enhancers	Brain Cingulate Gyrus	brain
42	chr6:150868800-150869000	Flanking Active TSS	HepG2	liver
43	chr6:150868800-150869200	Bivalent Enhancer	Brain Hippocampus Middle	brain
44	chr6:150869000-150869200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
45	chr6:150869000-150869200	Enhancers	HepG2	liver
46	chr6:150869000-150869400	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr6:150869000-150870200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr6:150869000-150870600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr6:150869200-150869400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr6:150869200-150869400	Enhancers	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links