Variant report

Variant	nsv981147
Chromosome Location	chr6:57289656-57296797
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:57293162..57295571-chr6:57300739..57302981,3	K562	blood:
2	chr6:57296504..57298287-chr6:57300033..57301535,2	K562	blood:
3	chr6:57287892..57290689-chr6:57302857..57304913,2	K562	blood:
4	chr6:57285506..57287843-chr6:57289585..57292088,2	MCF-7	breast:

Extended variants
information (count: 438 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:438 , 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	rs149687025	chr6:57289660-57289661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373257189	chr6:57289661-57289662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs17842594	chr6:57289675-57289676	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs150994291	chr6:57289704-57289705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73752136	chr6:57289722-57289723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs28531925	chr6:57289732-57289733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560814833	chr6:57289781-57289782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572655240	chr6:57289785-57289786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78526973	chr6:57289819-57289820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140880429	chr6:57289828-57289829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76710183	chr6:57289872-57289873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74293841	chr6:57289902-57289903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78052520	chr6:57289912-57289913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561793874	chr6:57289925-57289926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs72873514	chr6:57289943-57289944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs72873516	chr6:57289945-57289946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562334455	chr6:57289961-57289962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs199552203	chr6:57289970-57289971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551238214	chr6:57289980-57289981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187805781	chr6:57290013-57290014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs72873517	chr6:57290031-57290032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145184670	chr6:57290035-57290036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs71680758	chr6:57290036-57290037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532070912	chr6:57290049-57290050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375605899	chr6:57290051-57290052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76683240	chr6:57290058-57290059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371099594	chr6:57290074-57290075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548861725	chr6:57290075-57290076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191599860	chr6:57290079-57290080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567708584	chr6:57290097-57290098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537964900	chr6:57290098-57290099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs9396296	chr6:57290099-57290100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs80246274	chr6:57290104-57290105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184426639	chr6:57290120-57290121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571666043	chr6:57290128-57290129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs72873520	chr6:57290130-57290131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539063923	chr6:57290139-57290140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs36197819	chr6:57290163-57290164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554489875	chr6:57290169-57290170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572797380	chr6:57290171-57290172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs36153873	chr6:57290172-57290173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554872006	chr6:57290175-57290176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371205350	chr6:57290207-57290208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576616872	chr6:57290217-57290218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543966329	chr6:57290226-57290227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562628879	chr6:57290227-57290228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532748465	chr6:57290235-57290236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs35305843	chr6:57290281-57290282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34005663	chr6:57290293-57290294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544618393	chr6:57290313-57290314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	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
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Intellectual disability	21811512	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57281600-57297000	Weak transcription	Primary B cells from cord blood	blood
2	chr6:57281600-57297600	Weak transcription	Dnd41	blood
3	chr6:57283000-57295800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:57283400-57296400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr6:57284400-57303600	Weak transcription	Pancreas	Pancrea
6	chr6:57284600-57295800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr6:57284600-57296200	Weak transcription	HSMM	muscle
8	chr6:57286600-57294000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:57286600-57299600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr6:57286600-57310200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:57286800-57294600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:57288600-57297600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:57288800-57295800	Weak transcription	NHLF	lung
14	chr6:57288800-57303400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:57289000-57289800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr6:57289000-57290200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr6:57289000-57291600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr6:57289000-57293400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:57289000-57294400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr6:57289000-57310000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr6:57289200-57293000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:57289200-57294600	Weak transcription	Osteobl	bone
23	chr6:57289200-57295200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:57289400-57290400	Weak transcription	NHDF-Ad	bronchial
25	chr6:57289400-57305400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:57289600-57290400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr6:57289600-57291000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr6:57289600-57293200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:57289800-57291200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr6:57290200-57290600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr6:57290400-57290600	Enhancers	NHDF-Ad	bronchial
32	chr6:57290400-57291200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr6:57290600-57291600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr6:57290600-57292400	Weak transcription	NHDF-Ad	bronchial
35	chr6:57291000-57291600	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr6:57291200-57291600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr6:57291200-57291600	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr6:57291200-57296400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr6:57291600-57292600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr6:57291600-57292600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr6:57291600-57293000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr6:57291600-57293000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr6:57291600-57305600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr6:57292200-57292400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr6:57292400-57293200	Enhancers	NHDF-Ad	bronchial
46	chr6:57292400-57301800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr6:57292600-57293000	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr6:57292600-57294200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr6:57293000-57293600	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr6:57293000-57293800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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