Variant report

Variant	nsv605261
Chromosome Location	chr6:167156675-167163207
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	chr6:167160489..167162374-chr6:167163032..167165986,2	K562	blood:
2	chr6:167160489..167162374-chr6:167163032..167165986,2	K562	blood:

Extended variants
information (count: 427 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1973900	chr6:167156675-167156676	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs5881715	chr6:167156685-167156686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs397791281	chr6:167156686-167156687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs397739888	chr6:167156687-167156688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs199830738	chr6:167156688-167156689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545205487	chr6:167156760-167156761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76828225	chr6:167156762-167156763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147667242	chr6:167156808-167156809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549055008	chr6:167156854-167156855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551431971	chr6:167156861-167156862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140408819	chr6:167156875-167156876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115322941	chr6:167156915-167156916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571385409	chr6:167156932-167156933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545806004	chr6:167156971-167156972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538320838	chr6:167156975-167156976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534477680	chr6:167157012-167157013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150372963	chr6:167157020-167157021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138044259	chr6:167157025-167157026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536847405	chr6:167157030-167157031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553472017	chr6:167157041-167157042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188554507	chr6:167157057-167157058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34019584	chr6:167157064-167157065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576310943	chr6:167157070-167157071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537071140	chr6:167157084-167157085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs193014257	chr6:167157100-167157101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577278935	chr6:167157129-167157130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35289579	chr6:167157154-167157155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533775467	chr6:167157177-167157178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184239642	chr6:167157178-167157179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563891525	chr6:167157180-167157181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs578030225	chr6:167157182-167157183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572187317	chr6:167157191-167157192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369160320	chr6:167157196-167157197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149078438	chr6:167157224-167157225	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs561195701	chr6:167157236-167157237	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs371614316	chr6:167157254-167157255	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs114052964	chr6:167157255-167157256	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs564685411	chr6:167157288-167157289	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs532237557	chr6:167157294-167157295	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs545411324	chr6:167157309-167157310	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs144679420	chr6:167157313-167157314	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs138561648	chr6:167157321-167157322	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs113328260	chr6:167157337-167157338	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs548351788	chr6:167157346-167157347	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs570030917	chr6:167157353-167157354	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs73051172	chr6:167157371-167157372	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs146190779	chr6:167157424-167157425	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs187070905	chr6:167157474-167157475	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs535007974	chr6:167157518-167157519	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs191711638	chr6:167157534-167157535	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Autism	22549408	CNVD

Chromatin state (count:175 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167136600-167157600	Weak transcription	Brain Angular Gyrus	brain
2	chr6:167150600-167157000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:167152200-167157200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr6:167152400-167160800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr6:167152600-167157200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:167152800-167157600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:167153600-167156800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr6:167153600-167157000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr6:167153600-167157200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:167153600-167157200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr6:167153600-167157800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:167153800-167157000	Weak transcription	HSMMtube	muscle
13	chr6:167153800-167157200	Weak transcription	HSMM	muscle
14	chr6:167153800-167160800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr6:167154600-167157400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr6:167154600-167158000	Weak transcription	Pancreas	Pancrea
17	chr6:167155200-167157200	Enhancers	Brain Germinal Matrix	brain
18	chr6:167155800-167157800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:167155800-167157800	Enhancers	Brain Anterior Caudate	brain
20	chr6:167156000-167157000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr6:167156000-167157800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:167156000-167158000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr6:167156400-167158200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:167156600-167157400	Weak transcription	Fetal Kidney	kidney
25	chr6:167156600-167157400	Enhancers	Fetal Lung	lung
26	chr6:167156600-167157800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr6:167156800-167157600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:167156800-167157800	Enhancers	Rectal Smooth Muscle	rectum
29	chr6:167157000-167157400	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr6:167157000-167157600	Enhancers	HSMMtube	muscle
31	chr6:167157000-167158000	Enhancers	Fetal Heart	heart
32	chr6:167157000-167158000	Enhancers	NH-A	brain
33	chr6:167157000-167158200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr6:167157200-167157400	Enhancers	H1 Cell Line	embryonic stem cell
35	chr6:167157200-167157600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr6:167157200-167157800	Bivalent Enhancer	Fetal Stomach	stomach
37	chr6:167157200-167157800	Enhancers	Placenta Amnion	Placenta Amnion
38	chr6:167157200-167157800	Enhancers	HSMM	muscle
39	chr6:167157200-167158000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:167157200-167158000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr6:167157200-167158200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr6:167157200-167158400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr6:167157400-167157600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr6:167157400-167157600	Enhancers	Fetal Kidney	kidney
45	chr6:167157400-167159000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr6:167157400-167160800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr6:167157600-167157800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr6:167157600-167157800	Enhancers	Brain Angular Gyrus	brain
49	chr6:167157600-167158000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:167157600-167158200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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