Variant report

Variant	nsv946291
Chromosome Location	chr1:10560127-10563439
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10562142..10564951-chr1:10926770..10929049,2	K562	blood:
2	chr1:10515344..10518157-chr1:10557483..10560138,2	MCF-7	breast:
3	chr1:10548374..10550861-chr1:10557856..10560546,2	K562	blood:
4	chr1:10531903..10534239-chr1:10558821..10560390,2	K562	blood:
5	chr1:10555587..10558317-chr1:10561654..10564400,3	K562	blood:
6	chr1:10549510..10553180-chr1:10560957..10564182,4	K562	blood:

Variant related genes	Relation type
ENSG00000142655	chromatin interactions
ENSG00000160049	chromatin interactions

Extended variants
information (count: 128 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116077495	chr1:10560148-10560149	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs531262112	chr1:10560197-10560198	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs552589943	chr1:10560199-10560200	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs570774164	chr1:10560211-10560212	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs373062624	chr1:10560214-10560215	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs34611625	chr1:10560215-10560216	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs397736876	chr1:10560217-10560218	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs546781885	chr1:10560225-10560226	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs568205879	chr1:10560312-10560313	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs76316886	chr1:10560313-10560314	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs75608512	chr1:10560315-10560316	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs564816664	chr1:10560340-10560341	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs556782639	chr1:10560385-10560386	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs188767903	chr1:10560391-10560392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35225469	chr1:10560392-10560393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373682770	chr1:10560409-10560410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181155620	chr1:10560414-10560415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35247604	chr1:10560431-10560432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557699413	chr1:10560464-10560465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111837410	chr1:10560477-10560478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572769510	chr1:10560552-10560553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540273263	chr1:10560564-10560565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143851017	chr1:10560569-10560570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184386890	chr1:10560580-10560581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189273026	chr1:10560599-10560600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182324600	chr1:10560654-10560655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549374945	chr1:10560663-10560664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563908930	chr1:10560664-10560665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531197677	chr1:10560680-10560681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546542304	chr1:10560696-10560697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186221143	chr1:10560732-10560733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146682320	chr1:10560760-10560761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190628425	chr1:10560777-10560778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140289409	chr1:10560780-10560781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529374121	chr1:10560788-10560789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550343675	chr1:10560863-10560864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568724842	chr1:10560962-10560963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539319393	chr1:10560965-10560966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs74810178	chr1:10560988-10560989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540936881	chr1:10560989-10560990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566800358	chr1:10561112-10561113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181458473	chr1:10561203-10561204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs589400	chr1:10561282-10561283	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs573767561	chr1:10561291-10561292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs377687865	chr1:10561297-10561298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544339873	chr1:10561337-10561338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs71583875	chr1:10561347-10561348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs56216324	chr1:10561373-10561374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377081838	chr1:10561374-10561375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs111370166	chr1:10561379-10561380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	22429812	CNVD
Epilepsy	22118685	CNVD
Schizophrenia	22118685	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	19490664	CNVD
Ewing''s sarcoma	21437220	CNVD
Prader-willi syndrome	18797701	CNVD
periventricular nodular heterotopia	20648244	CNVD
1p36 deletion syndrome	22283845	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Neuroblastoma	18923524	CNVD
Retinoblastoma	22278416	CNVD
Mental retardation	20152051	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Astrocytoma	17934521	CNVD
Glioblastoma	20031968	CNVD
Acute myeloid leukemia	18000384	CNVD
Glioblastoma multiforme	16951158	CNVD
Neuroblastoma	18574593	CNVD
Glioblastoma multiforme	17369134	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Myoepithelioma	18604193	CNVD
Wilms tumour	19047088	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Neuroblastoma	18923191	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21138945	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian neoplasms	16753589	CNVD
Neuroblastoma	19287153	CNVD
Hepatocellular carcinoma	18929564	CNVD
Melanoma	17363583	CNVD
renal disease	17924346	CNVD
Uveal melanoma	20484589	CNVD
Multiple myeloma	16616336	CNVD
Glioblastoma multiforme	22286061	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	20808228	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10553000-10567200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:10554800-10568600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:10555200-10567400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:10555200-10567400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:10555200-10567400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:10555200-10568400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:10555200-10568600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:10555200-10570000	Weak transcription	Aorta	Aorta
9	chr1:10555400-10567200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:10555400-10567400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:10555600-10560800	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr1:10555600-10561000	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:10555600-10564200	Weak transcription	HUVEC	blood vessel
14	chr1:10555600-10567400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:10555600-10567400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:10555600-10567400	Weak transcription	A549	lung
17	chr1:10555600-10567600	Weak transcription	NH-A	brain
18	chr1:10555600-10567800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr1:10555600-10567800	Weak transcription	HSMM	muscle
20	chr1:10555600-10567800	Weak transcription	NHDF-Ad	bronchial
21	chr1:10555600-10568600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr1:10555600-10568600	Weak transcription	Pancreas	Pancrea
23	chr1:10555600-10568600	Weak transcription	HSMMtube	muscle
24	chr1:10555600-10570400	Weak transcription	Brain Substantia Nigra	brain
25	chr1:10555600-10570400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:10555600-10570600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:10555800-10564400	Weak transcription	Placenta	Placenta
28	chr1:10555800-10564400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:10555800-10567200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr1:10555800-10567400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:10555800-10567400	Weak transcription	Osteobl	bone
32	chr1:10555800-10567800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:10555800-10567800	Weak transcription	Fetal Lung	lung
34	chr1:10555800-10568600	Weak transcription	Esophagus	oesophagus
35	chr1:10555800-10569600	Weak transcription	Colonic Mucosa	Colon
36	chr1:10555800-10570400	Weak transcription	Brain Anterior Caudate	brain
37	chr1:10556000-10561000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr1:10556000-10567200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:10556000-10567400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr1:10556000-10569400	Weak transcription	Fetal Brain Female	brain
41	chr1:10556000-10570200	Weak transcription	Brain Angular Gyrus	brain
42	chr1:10556400-10564600	Weak transcription	Gastric	stomach
43	chr1:10556400-10567200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr1:10556400-10567400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr1:10556400-10567800	Weak transcription	Hela-S3	cervix
46	chr1:10556400-10570200	Weak transcription	Fetal Kidney	kidney
47	chr1:10556600-10562000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr1:10556600-10564200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:10556600-10567200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:10556600-10567200	Weak transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links