Variant report

Variant	nsv522757
Chromosome Location	chr1:151520731-151521933
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151521243..151523958-chr1:151534794..151537419,2	MCF-7	breast:
2	chr1:151519173..151521651-chr1:151523857..151526108,3	MCF-7	breast:
3	chr1:151483462..151487382-chr1:151518217..151524477,9	MCF-7	breast:
4	chr1:151520439..151521960-chr1:151523867..151525775,2	K562	blood:
5	1:151516085-151535167..1:151592347-151603110	GM12878	blood:
6	1:151171193-151178589..1:151516085-151535167	GM12878	blood:
7	chr1:151429392..151432679-chr1:151519688..151523512,7	MCF-7	breast:
8	chr1:151511607..151517154-chr1:151519761..151524773,6	K562	blood:
9	chr1:151481542..151488437-chr1:151515636..151525415,14	MCF-7	breast:
10	chr1:151520214..151522047-chr1:151540698..151542766,2	MCF-7	breast:
11	chr1:151518630..151520620-chr1:151521717..151523479,2	K562	blood:
12	chr1:151520240..151522190-chr1:151976261..151978118,2	MCF-7	breast:
13	chr1:151511080..151515753-chr1:151520278..151524135,5	K562	blood:
14	chr1:151517981..151521165-chr1:151811031..151814404,3	MCF-7	breast:
15	chr1:151518375..151521328-chr1:151559247..151561666,2	MCF-7	breast:
16	chr1:151519527..151521373-chr1:151550797..151553176,2	MCF-7	breast:
17	chr1:151430069..151432862-chr1:151521024..151523772,3	MCF-7	breast:
18	chr1:151519556..151521326-chr1:151545350..151548109,3	MCF-7	breast:
19	chr1:151518156..151521130-chr1:151964781..151966696,2	MCF-7	breast:
20	1:151402394-151411623..1:151516085-151535167	GM12878	blood:
21	chr1:151489014..151491832-chr1:151520153..151522189,2	MCF-7	breast:
22	chr1:151519770..151522144-chr1:151805041..151806645,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000238711	chromatin interactions
ENSG00000143398	chromatin interactions
ENSG00000225556	chromatin interactions
ENSG00000143442	chromatin interactions
ENSG00000206635	chromatin interactions
ENSG00000143367	chromatin interactions
ENSG00000143375	chromatin interactions
ENSG00000197747	chromatin interactions
ENSG00000234614	chromatin interactions
ENSG00000232536	chromatin interactions
ENSG00000201134	chromatin interactions

Extended variants
information (count: 44 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6587597	chr1:151520731-151520732	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570476894	chr1:151520733-151520734	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs541707383	chr1:151520738-151520739	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs11449797	chr1:151520781-151520782	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs61688880	chr1:151520782-151520783	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs545067880	chr1:151520785-151520786	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs528576080	chr1:151520786-151520787	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs200827632	chr1:151520798-151520799	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs537450686	chr1:151520803-151520804	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs568563136	chr1:151520883-151520884	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs191395401	chr1:151520919-151520920	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs6587598	chr1:151520920-151520921	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs569470663	chr1:151520960-151520961	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs6587599	chr1:151520967-151520968	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs550928064	chr1:151520980-151520981	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs571104098	chr1:151521019-151521020	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs368311590	chr1:151521055-151521056	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs540116664	chr1:151521077-151521078	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs553299405	chr1:151521135-151521136	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs183186828	chr1:151521147-151521148	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs187818600	chr1:151521209-151521210	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs555469635	chr1:151521217-151521218	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs143265314	chr1:151521228-151521229	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs374988576	chr1:151521236-151521237	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs575396015	chr1:151521243-151521244	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs372377348	chr1:151521251-151521252	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs544254355	chr1:151521283-151521284	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs538186632	chr1:151521373-151521374	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs367662334	chr1:151521391-151521392	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs150721264	chr1:151521441-151521442	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs577903162	chr1:151521446-151521447	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs6669998	chr1:151521507-151521508	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs193054809	chr1:151521564-151521565	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs373591854	chr1:151521609-151521610	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs1342928	chr1:151521673-151521674	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs548750454	chr1:151521674-151521675	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs114968968	chr1:151521694-151521695	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs530907270	chr1:151521705-151521706	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs185180026	chr1:151521731-151521732	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs189687597	chr1:151521736-151521737	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs374614226	chr1:151521797-151521798	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs115419376	chr1:151521810-151521811	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs547245520	chr1:151521840-151521841	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs17640579	chr1:151521933-151521934	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:117)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151514400-151540800	Weak transcription	Brain Angular Gyrus	brain
2	chr1:151514400-151556800	Weak transcription	Fetal Brain Male	brain
3	chr1:151515400-151523400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:151515600-151534400	Weak transcription	Brain Germinal Matrix	brain
5	chr1:151517400-151522200	Enhancers	Placenta Amnion	Placenta Amnion
6	chr1:151517600-151523400	Enhancers	Placenta	Placenta
7	chr1:151518200-151522200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:151518400-151522800	Enhancers	Fetal Intestine Large	intestine
9	chr1:151518600-151521600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:151518600-151521600	Enhancers	Fetal Intestine Small	intestine
11	chr1:151518600-151522000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:151519200-151522200	Flanking Active TSS	A549	lung
13	chr1:151519400-151520800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr1:151519400-151520800	Enhancers	Esophagus	oesophagus
15	chr1:151519400-151520800	Enhancers	Fetal Muscle Leg	muscle
16	chr1:151519400-151521400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr1:151519400-151521400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr1:151519400-151521600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:151519400-151521600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:151519400-151521600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:151519400-151521800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr1:151519400-151522000	Enhancers	Duodenum Mucosa	Duodenum
23	chr1:151519400-151522000	Enhancers	Pancreas	Pancrea
24	chr1:151519400-151522000	Enhancers	HUVEC	blood vessel
25	chr1:151519400-151522200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:151519400-151522200	Flanking Active TSS	Hela-S3	cervix
27	chr1:151519400-151522400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:151519400-151522400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:151519400-151522400	Enhancers	Stomach Mucosa	stomach
30	chr1:151519400-151522600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:151519400-151522800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:151519600-151520800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:151519600-151522000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:151519600-151522400	Enhancers	Gastric	stomach
35	chr1:151519600-151522400	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr1:151519600-151524400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr1:151519800-151520800	Flanking Active TSS	HSMMtube	muscle
38	chr1:151519800-151522000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:151520000-151522000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr1:151520000-151522000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:151520200-151520800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:151520200-151520800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr1:151520200-151521200	Enhancers	Osteobl	bone
44	chr1:151520200-151522000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr1:151520200-151522200	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr1:151520200-151524000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr1:151520200-151524600	Weak transcription	Right Atrium	heart
48	chr1:151520200-151534200	Weak transcription	Fetal Stomach	stomach
49	chr1:151520200-151536600	Weak transcription	Ovary	ovary
50	chr1:151520400-151520800	Enhancers	Colonic Mucosa	Colon

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