Variant report

Variant	nsv945579
Chromosome Location	chr1:45484262-45485685
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	chr1:45285085..45286788-chr1:45483316..45485098,2	K562	blood:
2	chr1:45483477..45484967-chr1:45765750..45766657,4	K562	blood:
3	chr1:45483996..45486300-chr1:45594488..45596026,2	K562	blood:
4	chr1:45484177..45484927-chr1:45695999..45696897,4	MCF-7	breast:
5	chr1:45476265..45486633-chr1:45761064..45774272,63	K562	blood:
6	chr1:45483767..45484830-chr1:45695988..45696895,3	MCF-7	breast:
7	chr1:45483655..45486167-chr1:45802201..45804305,2	K562	blood:
8	chr1:45484097..45484937-chr1:45766011..45766623,2	MCF-7	breast:
9	chr1:45476357..45485239-chr1:45761850..45773601,48	K562	blood:
10	chr1:45483104..45484724-chr1:45490873..45492941,2	K562	blood:
11	chr1:45483402..45485551-chr1:45804133..45806888,2	K562	blood:
12	chr1:45185920..45189252-chr1:45480937..45484378,4	K562	blood:
13	chr1:45184531..45190715-chr1:45481425..45486664,6	K562	blood:
14	chr1:45480075..45485962-chr1:45670647..45674355,5	MCF-7	breast:
15	chr1:45184531..45187337-chr1:45484420..45488341,4	K562	blood:
16	chr1:45482594..45485585-chr1:45656946..45658548,2	K562	blood:
17	chr1:45482345..45484376-chr1:45808953..45810497,2	K562	blood:
18	chr1:45483202..45484788-chr1:45677331..45680052,2	K562	blood:
19	chr1:45483055..45484838-chr1:45740397..45743390,2	K562	blood:
20	chr1:45485526..45487934-chr1:45807215..45810160,2	K562	blood:
21	chr1:45484129..45484961-chr1:45769347..45770315,2	K562	blood:
22	chr1:45475929..45480621-chr1:45481195..45486078,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000126088	chromatin interactions
ENSG00000162415	chromatin interactions
ENSG00000198520	chromatin interactions
ENSG00000199377	chromatin interactions
ENSG00000132781	chromatin interactions
ENSG00000202444	chromatin interactions
ENSG00000132773	chromatin interactions
ENSG00000126107	chromatin interactions

Extended variants
information (count: 59 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375492019	chr1:45484274-45484275	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs369895348	chr1:45484281-45484282	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs373183135	chr1:45484330-45484331	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs200355787	chr1:45484358-45484359	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs371039812	chr1:45484375-45484376	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs576404969	chr1:45484382-45484383	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs201661380	chr1:45484394-45484395	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs372409844	chr1:45484403-45484404	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs377081514	chr1:45484412-45484413	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs532080559	chr1:45484442-45484443	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs542122003	chr1:45484446-45484447	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs201240018	chr1:45484448-45484449	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs374906325	chr1:45484495-45484496	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs201386402	chr1:45484498-45484499	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs199682147	chr1:45484504-45484505	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs368107117	chr1:45484635-45484636	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs370890394	chr1:45484645-45484646	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs534396669	chr1:45484655-45484656	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs375662782	chr1:45484670-45484671	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs16837443	chr1:45484675-45484676	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs372907194	chr1:45484693-45484694	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs376558872	chr1:45484711-45484712	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs536235665	chr1:45484747-45484748	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs367792649	chr1:45484756-45484757	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs561930951	chr1:45484821-45484822	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs371662647	chr1:45484832-45484833	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs180678630	chr1:45484846-45484847	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs376021528	chr1:45484856-45484857	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs369363295	chr1:45484863-45484864	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs369320287	chr1:45484880-45484881	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs147048529	chr1:45484906-45484907	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs372992808	chr1:45484935-45484936	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs186460547	chr1:45484971-45484972	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs189323143	chr1:45484972-45484973	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs369814601	chr1:45484977-45484978	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs373582295	chr1:45484982-45484983	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs558435745	chr1:45484983-45484984	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs181661898	chr1:45484986-45484987	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs149693490	chr1:45485014-45485015	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs145543390	chr1:45485015-45485016	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs56298613	chr1:45485064-45485065	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs574222660	chr1:45485073-45485074	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs549492527	chr1:45485103-45485104	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs572393552	chr1:45485212-45485213	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs563338918	chr1:45485234-45485235	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs370286314	chr1:45485274-45485275	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs186648645	chr1:45485334-45485335	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs191572788	chr1:45485341-45485342	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs371007724	chr1:45485349-45485350	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs140335963	chr1:45485429-45485430	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

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	21364760	CNVD
Breast cancer	20680643	CNVD
Colorectal cancer	19287155	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45478600-45500000	Weak transcription	Aorta	Aorta
2	chr1:45479000-45485200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:45479000-45493000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:45479600-45484400	Weak transcription	Right Ventricle	heart
5	chr1:45480800-45486000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:45480800-45500000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:45480800-45500600	Weak transcription	HepG2	liver
8	chr1:45480800-45501200	Weak transcription	Fetal Brain Male	brain
9	chr1:45480800-45510400	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:45481000-45484400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:45481000-45484600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:45481200-45484400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:45481200-45504600	Weak transcription	Colonic Mucosa	Colon
14	chr1:45481200-45510200	Weak transcription	Lung	lung
15	chr1:45481200-45525000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:45481200-45527400	Weak transcription	Left Ventricle	heart
17	chr1:45481400-45488000	Weak transcription	Fetal Kidney	kidney
18	chr1:45481400-45500000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:45481600-45484400	Weak transcription	Spleen	Spleen
20	chr1:45481600-45489400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:45481600-45491800	Weak transcription	NHDF-Ad	bronchial
22	chr1:45481600-45498600	Weak transcription	Hela-S3	cervix
23	chr1:45481600-45499800	Weak transcription	Fetal Intestine Large	intestine
24	chr1:45481600-45499800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr1:45481800-45489600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr1:45481800-45491400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:45481800-45499800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:45482000-45490600	Weak transcription	Fetal Lung	lung
29	chr1:45482000-45523800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr1:45482800-45484400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:45482800-45484400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:45482800-45484400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr1:45483200-45486200	Weak transcription	K562	blood
34	chr1:45483600-45486200	Strong transcription	Fetal Brain Female	brain
35	chr1:45483800-45484400	Enhancers	NHEK	skin
36	chr1:45484000-45484400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:45484000-45484600	Strong transcription	Right Atrium	heart
38	chr1:45484000-45484800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:45484000-45484800	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr1:45484000-45484800	Enhancers	Liver	Liver
41	chr1:45484000-45484800	Enhancers	Pancreas	Pancrea
42	chr1:45484000-45485800	Strong transcription	Ovary	ovary
43	chr1:45484200-45484400	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr1:45484200-45484400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:45484200-45484400	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr1:45484200-45484400	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr1:45484200-45484400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:45484200-45484400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:45484200-45484400	Enhancers	Primary B cells from peripheral blood	blood
50	chr1:45484200-45484400	Enhancers	Primary T helper naive cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links