Variant report

Variant	nsv1015079
Chromosome Location	chr1:10611403-10645176
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:41)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:10619980..10621938-chr1:10626339..10628376,2	MCF-7	breast:
2	chr1:10601514..10603833-chr1:10611610..10614031,2	K562	blood:
3	chr1:10613182..10615278-chr1:10634059..10635850,2	MCF-7	breast:
4	chr1:10624346..10626941-chr1:10645390..10647712,2	MCF-7	breast:
5	chr1:10612128..10614249-chr1:11118816..11121304,2	MCF-7	breast:
6	chr1:10629269..10631572-chr1:10641133..10643624,2	K562	blood:
7	chr1:10630568..10633704-chr1:10633962..10635660,3	K562	blood:
8	chr1:10618984..10620731-chr1:10629167..10630735,2	K562	blood:
9	chr1:10622081..10624385-chr1:10637309..10640742,3	K562	blood:
10	chr1:10583207..10584998-chr1:10614672..10617008,2	K562	blood:
11	chr1:10599611..10603439-chr1:10608820..10611916,3	K562	blood:
12	chr1:10618984..10620731-chr1:10629167..10630735,2	K562	blood:
13	chr1:10612660..10614592-chr1:10614870..10616805,2	K562	blood:
14	chr1:10638213..10640630-chr1:10641912..10644179,2	K562	blood:
15	chr1:10630568..10633704-chr1:10633962..10635660,3	K562	blood:
16	chr1:10643647..10647987-chr1:10959237..10963277,3	MCF-7	breast:
17	chr1:10641205..10642725-chr11:207100..208626,2	MCF-7	breast:
18	chr1:10638213..10640630-chr1:10641912..10644179,2	K562	blood:
19	chr1:10628385..10630048-chr1:10632032..10633637,2	MCF-7	breast:
20	chr1:10567319..10568120-chr1:10621986..10622609,2	K562	blood:
21	chr1:10625304..10627854-chr1:10628405..10630255,2	K562	blood:
22	chr1:10629269..10631572-chr1:10641133..10643624,2	K562	blood:
23	chr1:10644062..10646561-chr1:10657195..10659839,2	MCF-7	breast:
24	chr1:10622081..10624385-chr1:10637309..10640742,3	K562	blood:
25	chr1:10612660..10614592-chr1:10614870..10616805,2	K562	blood:
26	chr1:10619980..10621938-chr1:10626339..10628376,2	MCF-7	breast:
27	chr1:10632331..10635200-chr1:10638262..10640541,2	K562	blood:
28	chr1:10628385..10630048-chr1:10632032..10633637,2	MCF-7	breast:
29	chr1:10615907..10618063-chr1:10619537..10622754,3	K562	blood:
30	chr1:10632188..10633727-chr1:10646981..10648611,2	K562	blood:
31	chr1:10614584..10616162-chr1:10883183..10885480,2	K562	blood:
32	chr1:10610347..10612190-chr1:10616959..10619144,2	K562	blood:
33	chr1:10645161..10647549-chr1:10959865..10961367,2	MCF-7	breast:
34	chr1:10615907..10618063-chr1:10619537..10622754,3	K562	blood:
35	chr1:10632331..10635200-chr1:10638262..10640541,2	K562	blood:
36	chr1:10091916..10094784-chr1:10643336..10645532,2	K562	blood:
37	chr1:10613182..10615278-chr1:10634059..10635850,2	MCF-7	breast:
38	chr1:10625304..10627854-chr1:10628405..10630255,2	K562	blood:
39	chr1:10574766..10576583-chr1:10614783..10617657,2	MCF-7	breast:
40	chr1:10610347..10612190-chr1:10616959..10619144,2	K562	blood:
41	chr1:10604158..10605695-chr1:10610029..10612944,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000116649	chromatin interactions
ENSG00000130939	chromatin interactions
ENSG00000177951	chromatin interactions
ENSG00000177963	chromatin interactions

Extended variants
information (count: 1231 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:1231 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6688558	chr1:10611403-10611404	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs6696891	chr1:10611417-10611418	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs570179640	chr1:10611546-10611547	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192419290	chr1:10611551-10611552	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375722362	chr1:10611560-10611561	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2480771	chr1:10611594-10611595	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs573675169	chr1:10611596-10611597	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541983819	chr1:10611600-10611601	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557115570	chr1:10611722-10611723	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142270013	chr1:10611748-10611749	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546082231	chr1:10611836-10611837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76100384	chr1:10611837-10611838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528442854	chr1:10611936-10611937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540292556	chr1:10612074-10612075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6700023	chr1:10612075-10612076	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs534104692	chr1:10612104-10612105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551123834	chr1:10612128-10612129	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs113453657	chr1:10612149-10612150	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs10864462	chr1:10612158-10612159	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs533204191	chr1:10612236-10612237	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs551660817	chr1:10612243-10612244	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs566657380	chr1:10612255-10612256	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs138263528	chr1:10612272-10612273	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs149625208	chr1:10612283-10612284	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs184587147	chr1:10612300-10612301	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs537523480	chr1:10612316-10612317	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs4845935	chr1:10612360-10612361	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs575420802	chr1:10612381-10612382	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs60868792	chr1:10612414-10612415	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs558405271	chr1:10612455-10612456	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs375330435	chr1:10612499-10612500	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs573475977	chr1:10612589-10612590	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs540957817	chr1:10612593-10612594	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs4846231	chr1:10612636-10612637	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs574129961	chr1:10612640-10612641	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs544708290	chr1:10612776-10612777	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs142674711	chr1:10612786-10612787	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs4846232	chr1:10612810-10612811	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs9430149	chr1:10612820-10612821	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs147356103	chr1:10612821-10612822	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs187371508	chr1:10612864-10612865	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs567146354	chr1:10612880-10612881	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs562540582	chr1:10612912-10612913	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs537485332	chr1:10612919-10612920	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs559114492	chr1:10612954-10612955	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs549421977	chr1:10612976-10612977	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs571033448	chr1:10612981-10612982	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs115674239	chr1:10613038-10613039	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs558054898	chr1:10613064-10613065	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs577363676	chr1:10613094-10613095	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:552 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10589400-10664800	Weak transcription	Aorta	Aorta
2	chr1:10591000-10639400	Weak transcription	Hela-S3	cervix
3	chr1:10591400-10629200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:10591600-10616000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:10592200-10615800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr1:10598600-10621800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:10600000-10615600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:10600000-10615800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:10600000-10619600	Weak transcription	Brain Substantia Nigra	brain
10	chr1:10600200-10614800	Weak transcription	Brain Angular Gyrus	brain
11	chr1:10600200-10615800	Weak transcription	HSMM	muscle
12	chr1:10601000-10613000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:10601200-10613400	Weak transcription	Osteobl	bone
14	chr1:10601200-10619600	Weak transcription	Brain Anterior Caudate	brain
15	chr1:10601400-10615600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:10601800-10613200	Weak transcription	K562	blood
17	chr1:10601800-10613400	Weak transcription	Right Ventricle	heart
18	chr1:10602000-10612800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:10602000-10612800	Weak transcription	Fetal Thymus	thymus
20	chr1:10602000-10613000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:10602000-10613200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr1:10602000-10615600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:10602000-10615600	Weak transcription	HMEC	breast
24	chr1:10602000-10616200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:10602000-10619400	Weak transcription	Brain Hippocampus Middle	brain
26	chr1:10602000-10639600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:10602200-10615600	Weak transcription	Placenta	Placenta
28	chr1:10602200-10615600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr1:10602400-10613000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:10602400-10613200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr1:10602400-10613200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:10602400-10613600	Weak transcription	Primary B cells from peripheral blood	blood
33	chr1:10602400-10615600	Weak transcription	Fetal Muscle Leg	muscle
34	chr1:10602400-10616000	Weak transcription	Adipose Nuclei	Adipose
35	chr1:10602600-10613200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:10602600-10615400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:10602600-10615600	Weak transcription	HSMMtube	muscle
38	chr1:10602600-10619400	Weak transcription	NHEK	skin
39	chr1:10602600-10624000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:10602800-10615800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:10603000-10659000	Weak transcription	Primary B cells from cord blood	blood
42	chr1:10603200-10615800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:10603800-10616000	Weak transcription	Spleen	Spleen
44	chr1:10604000-10613800	Weak transcription	Esophagus	oesophagus
45	chr1:10604000-10615000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr1:10604600-10619600	Weak transcription	Thymus	Thymus
47	chr1:10604600-10621400	Weak transcription	Dnd41	blood
48	chr1:10604600-10623800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr1:10604800-10621200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr1:10605000-10659000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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