Variant report

Variant	nsv945922
Chromosome Location	chr1:46158774-46160316
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PML	chr1:46160070-46160928	K562	blood:	n/a	n/a
2	POLR2A	chr1:46159987-46161296	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr1:46159747-46160681	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr1:46158864-46159471	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr1:46159114-46159215	K562	blood:	n/a	n/a
6	POLR2A	chr1:46160284-46161099	K562	blood:	n/a	n/a
7	POLR2A	chr1:46160160-46160563	HCT-116	colon:	n/a	n/a
8	POLR2A	chr1:46159251-46159294	K562	blood:	n/a	n/a
9	POLR2A	chr1:46160099-46161614	HepG2	liver:	n/a	n/a
10	POLR2A	chr1:46158903-46159207	K562	blood:	n/a	n/a
11	POLR2A	chr1:46160153-46160502	HL-60	blood:	n/a	n/a
12	POLR2A	chr1:46160219-46160305	GM12878	blood:	n/a	n/a
13	POLR2A	chr1:46160097-46160535	K562	blood:	n/a	n/a
14	POLR2A	chr1:46160123-46160457	HepG2	liver:	n/a	n/a
15	POLR2A	chr1:46160290-46161674	K562	blood:	n/a	n/a
16	POLR2A	chr1:46158988-46159245	MCF-7	breast:	n/a	n/a
17	POLR2A	chr1:46160126-46160579	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr1:46158904-46159236	K562	blood:	n/a	n/a
19	POLR2A	chr1:46160151-46160681	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr1:46160062-46160554	HepG2	liver:	n/a	n/a
21	POLR2A	chr1:46160084-46161208	K562	blood:	n/a	n/a
22	POLR2A	chr1:46159407-46161389	K562	blood:	n/a	n/a
23	POLR2A	chr1:46158961-46159207	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr1:46160276-46160391	HepG2	liver:	n/a	n/a
25	POLR2A	chr1:46159459-46159751	K562	blood:	n/a	n/a
26	POLR2A	chr1:46160024-46160453	K562	blood:	n/a	n/a
27	POLR2A	chr1:46159055-46159168	K562	blood:	n/a	n/a
28	POLR2A	chr1:46158904-46159338	HepG2	liver:	n/a	n/a
29	POLR2A	chr1:46159041-46159113	GM12878	blood:	n/a	n/a
30	POLR2A	chr1:46160206-46161328	K562	blood:	n/a	n/a
31	POLR2A	chr1:46160131-46161267	GM12891	blood:	n/a	n/a
32	POLR2A	chr1:46160047-46161797	SK-N-MC	brain:	n/a	n/a
33	POLR2A	chr1:46160153-46161000	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:46151653..46154239-chr1:46155788..46159254,3	MCF-7	breast:
2	chr1:46158939..46160922-chr1:46213584..46216155,2	MCF-7	breast:
3	chr1:46156649..46159424-chr1:46274017..46275928,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NASP-1	chr1:46158876-46159517	NONHSAT002965

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	TMEM69	hsa-miR-7-5p	chr1:46159740-46159761

Variant related genes	Relation type
GPBP1L1	TF binding region
ENSG00000159592	chromatin interactions
ENSG00000159596	chromatin interactions

Extended variants
information (count: 76 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372591595	chr1:46158830-46158831	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs74072078	chr1:46158833-46158834	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs538743096	chr1:46158838-46158839	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs551643675	chr1:46158886-46158887	Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs201048965	chr1:46158939-46158940	Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs146017032	chr1:46158942-46158943	Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs537668132	chr1:46158951-46158952	Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs182542658	chr1:46158961-46158962	Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs370331232	chr1:46158976-46158977	Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs200524125	chr1:46158981-46158982	Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs56215132	chr1:46159001-46159002	Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs535413409	chr1:46159014-46159015	Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs560345889	chr1:46159018-46159019	Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs34055078	chr1:46159039-46159040	Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs370701403	chr1:46159080-46159081	Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs375295647	chr1:46159100-46159101	Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs201277896	chr1:46159103-46159104	Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs61735666	chr1:46159157-46159158	Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs201278828	chr1:46159158-46159159	Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs201508155	chr1:46159162-46159163	Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs545871679	chr1:46159167-46159168	Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs557612910	chr1:46159169-46159170	Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs374619961	chr1:46159173-46159174	Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs575813013	chr1:46159174-46159175	Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs199831841	chr1:46159193-46159194	Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs199821128	chr1:46159196-46159197	Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs201977457	chr1:46159201-46159202	Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs369647551	chr1:46159211-46159212	Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs56220330	chr1:46159244-46159245	Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs541019832	chr1:46159246-46159247	Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs376744329	chr1:46159264-46159265	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs200303361	chr1:46159308-46159309	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs559706536	chr1:46159332-46159333	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs533213053	chr1:46159349-46159350	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs542990570	chr1:46159376-46159377	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs551850417	chr1:46159389-46159390	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs201332895	chr1:46159395-46159396	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs372308151	chr1:46159408-46159409	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs200474067	chr1:46159522-46159523	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376600006	chr1:46159608-46159609	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148693817	chr1:46159609-46159610	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142762008	chr1:46159629-46159630	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189810878	chr1:46159647-46159648	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553428610	chr1:46159662-46159663	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565664814	chr1:46159681-46159682	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182382919	chr1:46159698-46159699	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557819445	chr1:46159702-46159703	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575749137	chr1:46159719-46159720	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs17054823	chr1:46159755-46159756	Strong transcription Weak transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
50	rs187039207	chr1:46159789-46159790	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	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
Ewing''s sarcoma	21437220	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
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	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
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	22174824	CNVD
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20680643	CNVD
Colorectal cancer	19287155	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Schizophrenia	20967226	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:169 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46154400-46158800	Weak transcription	Gastric	stomach
2	chr1:46154600-46158800	Weak transcription	Fetal Kidney	kidney
3	chr1:46154600-46158800	Weak transcription	Left Ventricle	heart
4	chr1:46154600-46160200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:46154600-46160600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:46154600-46163000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:46154600-46169400	Weak transcription	Ovary	ovary
8	chr1:46154600-46177200	Weak transcription	Aorta	Aorta
9	chr1:46154600-46180000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:46154600-46188600	Weak transcription	Fetal Heart	heart
11	chr1:46154600-46206600	Weak transcription	Brain Substantia Nigra	brain
12	chr1:46154800-46160800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:46154800-46186000	Weak transcription	Psoas Muscle	Psoas
14	chr1:46154800-46192600	Weak transcription	Pancreas	Pancrea
15	chr1:46155000-46158800	Weak transcription	Fetal Lung	lung
16	chr1:46155000-46159000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:46155000-46159000	Weak transcription	Right Ventricle	heart
18	chr1:46155000-46159000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:46155000-46161400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr1:46155000-46185200	Weak transcription	Colonic Mucosa	Colon
21	chr1:46155000-46187000	Weak transcription	NHLF	lung
22	chr1:46155000-46215800	Weak transcription	Small Intestine	intestine
23	chr1:46155200-46158800	Weak transcription	HMEC	breast
24	chr1:46155200-46159000	Weak transcription	Brain Angular Gyrus	brain
25	chr1:46155200-46159000	Weak transcription	HSMMtube	muscle
26	chr1:46155200-46159400	Weak transcription	NH-A	brain
27	chr1:46155200-46177600	Weak transcription	Fetal Brain Male	brain
28	chr1:46155200-46178800	Weak transcription	Stomach Mucosa	stomach
29	chr1:46155400-46161000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:46155400-46163200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:46155400-46163600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:46155600-46159000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr1:46155600-46160600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr1:46155600-46161400	Strong transcription	Brain Germinal Matrix	brain
35	chr1:46155600-46162200	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr1:46155600-46163600	Strong transcription	Placenta	Placenta
37	chr1:46155600-46204600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr1:46155800-46158800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:46155800-46159200	Strong transcription	NHEK	skin
40	chr1:46155800-46163600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:46155800-46163600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:46155800-46163600	Strong transcription	Fetal Muscle Leg	muscle
43	chr1:46155800-46188400	Weak transcription	Hela-S3	cervix
44	chr1:46155800-46215600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr1:46156000-46159400	Strong transcription	K562	blood
46	chr1:46156000-46161200	Strong transcription	Fetal Muscle Trunk	muscle
47	chr1:46156000-46161200	Strong transcription	GM12878-XiMat	blood
48	chr1:46156000-46162400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:46156000-46163000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr1:46156000-46163000	Strong transcription	Fetal Brain Female	brain

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