Variant report

Variant	nsv945918
Chromosome Location	chr1:45642615-45660743
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45283372..45285918-chr1:45658749..45661902,3	K562	blood:
2	chr1:45282058..45285918-chr1:45660402..45665665,6	K562	blood:
3	chr1:45477006..45484094-chr1:45656150..45660239,6	K562	blood:
4	chr1:45636963..45639172-chr1:45642101..45643985,2	K562	blood:
5	chr1:45658355..45660758-chr1:45665576..45668120,2	MCF-7	breast:
6	chr1:45285495..45287600-chr1:45654820..45656620,2	K562	blood:
7	chr1:45482594..45485585-chr1:45656946..45658548,2	K562	blood:

Variant related genes	Relation type
ENSG00000202444	chromatin interactions
ENSG00000126088	chromatin interactions

Extended variants
information (count: 586 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:586 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566477650	chr1:45642721-45642722	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs55862658	chr1:45642724-45642725	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183275940	chr1:45642770-45642771	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142518504	chr1:45642783-45642784	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568482096	chr1:45642799-45642800	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555770456	chr1:45642890-45642891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537360450	chr1:45642902-45642903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557189042	chr1:45642907-45642908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577463973	chr1:45642972-45642973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372032887	chr1:45643033-45643034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372833139	chr1:45643038-45643039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553517280	chr1:45643085-45643086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551593974	chr1:45643114-45643115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573286219	chr1:45643241-45643242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542273649	chr1:45643244-45643245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562073063	chr1:45643266-45643267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186125649	chr1:45643300-45643301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147581088	chr1:45643348-45643349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564411505	chr1:45643349-45643350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533237709	chr1:45643353-45643354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575516263	chr1:45643389-45643390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142067652	chr1:45643415-45643416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573715593	chr1:45643458-45643459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528996941	chr1:45643463-45643464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190590649	chr1:45643467-45643468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182814911	chr1:45643524-45643525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561270628	chr1:45643561-45643562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574931853	chr1:45643562-45643563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145912050	chr1:45643604-45643605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570710834	chr1:45643609-45643610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531253326	chr1:45643627-45643628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550953465	chr1:45643664-45643665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560628554	chr1:45643673-45643674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540104651	chr1:45643687-45643688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561035925	chr1:45643769-45643770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188408959	chr1:45643775-45643776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567013124	chr1:45643806-45643807	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192686837	chr1:45643819-45643820	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555943153	chr1:45643848-45643849	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12743894	chr1:45643859-45643860	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575797104	chr1:45643872-45643873	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532524795	chr1:45643873-45643874	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558160377	chr1:45643964-45643965	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577880564	chr1:45643988-45643989	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540487758	chr1:45644004-45644005	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112727924	chr1:45644052-45644053	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552587711	chr1:45644053-45644054	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147821095	chr1:45644077-45644078	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562285604	chr1:45644090-45644091	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562833792	chr1:45644091-45644092	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45638600-45643600	Weak transcription	Fetal Intestine Large	intestine
2	chr1:45639000-45644800	Weak transcription	A549	lung
3	chr1:45639000-45645000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:45640600-45645000	Weak transcription	HepG2	liver
5	chr1:45642400-45642800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:45642400-45645000	Enhancers	Hela-S3	cervix
7	chr1:45642600-45643800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr1:45643000-45643400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:45643000-45644200	Enhancers	Small Intestine	intestine
10	chr1:45643200-45644000	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr1:45643400-45644000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:45643600-45644200	Enhancers	Fetal Intestine Large	intestine
13	chr1:45643800-45645800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:45644800-45645800	ZNF genes & repeats	A549	lung
15	chr1:45645000-45645600	Flanking Active TSS	Hela-S3	cervix
16	chr1:45645000-45645600	ZNF genes & repeats	HepG2	liver
17	chr1:45645000-45646000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:45645600-45646000	Active TSS	Hela-S3	cervix
19	chr1:45645600-45662600	Weak transcription	HepG2	liver
20	chr1:45652400-45658800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:45653000-45654400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:45653200-45659200	Weak transcription	Brain Germinal Matrix	brain
23	chr1:45654200-45655600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr1:45654400-45657000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:45654400-45660400	Weak transcription	Fetal Brain Male	brain
26	chr1:45655200-45655800	Enhancers	Ovary	ovary
27	chr1:45655600-45655800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:45655800-45656200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr1:45655800-45660800	Weak transcription	Ovary	ovary
30	chr1:45656200-45656400	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr1:45656200-45656400	Enhancers	K562	blood
32	chr1:45656200-45657000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr1:45656400-45656600	Flanking Active TSS	K562	blood
34	chr1:45656400-45657000	Active TSS	Placenta	Placenta
35	chr1:45656600-45657000	Active TSS	K562	blood
36	chr1:45657000-45657200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:45657000-45657200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr1:45657000-45657200	Enhancers	Left Ventricle	heart
39	chr1:45657000-45657200	Flanking Active TSS	K562	blood
40	chr1:45657000-45657400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr1:45657000-45657400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr1:45657000-45657400	Enhancers	Osteobl	bone
43	chr1:45657000-45657800	Enhancers	NHLF	lung
44	chr1:45657000-45658200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:45657000-45658600	Enhancers	Brain Anterior Caudate	brain
46	chr1:45657200-45657400	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr1:45657200-45657400	Bivalent Enhancer	Dnd41	blood
48	chr1:45657200-45657400	Enhancers	K562	blood
49	chr1:45657400-45658600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr1:45658000-45658200	Enhancers	HUVEC	blood vessel

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