Variant report

Variant	nsv515599
Chromosome Location	chr6:142047297-142050556
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:142043541..142046189-chr6:142046868..142049231,2	K562	blood:
2	chr6:142049775..142053768-chr6:142054988..142057417,3	K562	blood:
3	chr6:142046394..142048576-chr6:142051294..142053938,2	K562	blood:

Extended variants
information (count: 109 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6913823	chr6:142047297-142047298	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs62430996	chr6:142047301-142047302	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs141403595	chr6:142047320-142047321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115559215	chr6:142047339-142047340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558469446	chr6:142047363-142047364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530188903	chr6:142047368-142047369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184377264	chr6:142047377-142047378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541112768	chr6:142047434-142047435	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs115537320	chr6:142047482-142047483	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs574587641	chr6:142047531-142047532	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs540033941	chr6:142047538-142047539	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs555978082	chr6:142047544-142047545	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs376175132	chr6:142047559-142047560	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs543995502	chr6:142047615-142047616	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs563335276	chr6:142047633-142047634	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs76309081	chr6:142047639-142047640	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs552859503	chr6:142047646-142047647	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs5880513	chr6:142047649-142047650	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs35452338	chr6:142047650-142047651	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs564321864	chr6:142047677-142047678	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs147015584	chr6:142047680-142047681	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs546810687	chr6:142047734-142047735	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs562870320	chr6:142047737-142047738	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs145856730	chr6:142047842-142047843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367783525	chr6:142047861-142047862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551120380	chr6:142047941-142047942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189480276	chr6:142047962-142047963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535565264	chr6:142047996-142047997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571235694	chr6:142048088-142048089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181987773	chr6:142048129-142048130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6899316	chr6:142048222-142048223	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs536925112	chr6:142048230-142048231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558847505	chr6:142048245-142048246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577226270	chr6:142048255-142048256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534783165	chr6:142048256-142048257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200562296	chr6:142048263-142048264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553212188	chr6:142048272-142048273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201640522	chr6:142048374-142048375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574574911	chr6:142048403-142048404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541408513	chr6:142048408-142048409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541954028	chr6:142048415-142048416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563116592	chr6:142048435-142048436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575226619	chr6:142048498-142048499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554907067	chr6:142048526-142048527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112899306	chr6:142048530-142048531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564408809	chr6:142048546-142048547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528762163	chr6:142048548-142048549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546751670	chr6:142048612-142048613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561987981	chr6:142048650-142048651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs207467483	chr6:142048677-142048678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Gastric cancer	17908304	CNVD
lymphocytic leukemia	21291569	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
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
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	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
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142047200-142047400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr6:142047200-142047800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr6:142047200-142048000	Enhancers	Fetal Muscle Leg	muscle
4	chr6:142047200-142048000	Enhancers	HSMM	muscle
5	chr6:142047200-142048000	Enhancers	Osteobl	bone
6	chr6:142047400-142047600	Enhancers	Psoas Muscle	Psoas
7	chr6:142047400-142047600	Enhancers	NHDF-Ad	bronchial
8	chr6:142047400-142047800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:142047400-142047800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:142047400-142047800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:142047400-142047800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:142047400-142047800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:142047400-142047800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:142047400-142048000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:142047400-142048000	Enhancers	HUVEC	blood vessel
16	chr6:142047400-142049200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr6:142047400-142049200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr6:142047600-142047800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:142047600-142048000	Enhancers	Brain Germinal Matrix	brain
20	chr6:142047600-142048200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr6:142047600-142049000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr6:142047800-142049400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:142047800-142049400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:142047800-142049400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:142047800-142049600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:142048000-142049000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:142048000-142049000	Weak transcription	Osteobl	bone
28	chr6:142048000-142049200	Weak transcription	HUVEC	blood vessel
29	chr6:142048000-142049400	Weak transcription	Psoas Muscle	Psoas
30	chr6:142048000-142049400	Weak transcription	HSMM	muscle
31	chr6:142048200-142048600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr6:142048600-142049000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr6:142049000-142049400	Enhancers	Osteobl	bone
34	chr6:142049200-142049400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr6:142049200-142049800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:142049200-142049800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:142049200-142049800	Enhancers	HUVEC	blood vessel
38	chr6:142049200-142050200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr6:142049400-142049600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:142049400-142049600	Enhancers	Psoas Muscle	Psoas
41	chr6:142049400-142049800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:142049400-142049800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:142049400-142049800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr6:142049400-142049800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr6:142049400-142049800	Active TSS	A549	lung
46	chr6:142049400-142049800	Active TSS	HSMM	muscle
47	chr6:142049400-142049800	Active TSS	NHDF-Ad	bronchial
48	chr6:142049400-142049800	Active TSS	Osteobl	bone
49	chr6:142049600-142049800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:142050200-142050600	Enhancers	Muscle Satellite Cultured Cells	--

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