Variant report

Variant	esv3374969
Chromosome Location	chr1:45570890-45573738
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45569785..45571943-chr1:45588128..45590653,2	K562	blood:
2	chr1:45450629..45452184-chr1:45572673..45575146,2	K562	blood:
3	chr1:45450629..45453531-chr1:45573646..45575498,2	K562	blood:
4	chr1:45569785..45572164-chr1:45588128..45590653,3	K562	blood:

Variant related genes	Relation type
ENSG00000070785	chromatin interactions

Extended variants
information (count: 159 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558431802	chr1:45570907-45570908	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs578080801	chr1:45570912-45570913	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540443854	chr1:45570941-45570942	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560186834	chr1:45570990-45570991	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529376241	chr1:45571001-45571002	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376704553	chr1:45571063-45571064	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75420311	chr1:45571074-45571075	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190677008	chr1:45571085-45571086	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4027852	chr1:45571113-45571114	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551337204	chr1:45571116-45571117	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571525341	chr1:45571123-45571124	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527446540	chr1:45571124-45571125	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574072840	chr1:45571130-45571131	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542779715	chr1:45571137-45571138	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559309661	chr1:45571139-45571140	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547632722	chr1:45571140-45571141	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572871148	chr1:45571149-45571150	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567346813	chr1:45571151-45571152	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536386828	chr1:45571158-45571159	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556114229	chr1:45571195-45571196	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372898147	chr1:45571196-45571197	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569503479	chr1:45571210-45571211	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545024880	chr1:45571217-45571218	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538639224	chr1:45571226-45571227	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558134521	chr1:45571261-45571262	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373026965	chr1:45571269-45571270	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568575200	chr1:45571291-45571292	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564792579	chr1:45571316-45571317	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369366987	chr1:45571366-45571367	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116738419	chr1:45571388-45571389	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148871183	chr1:45571390-45571391	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542756250	chr1:45571391-45571392	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116644705	chr1:45571417-45571418	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531569203	chr1:45571442-45571443	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535462777	chr1:45571446-45571447	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545403001	chr1:45571452-45571453	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565006996	chr1:45571492-45571493	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527614928	chr1:45571504-45571505	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368364	chr1:45571522-45571523	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
40	rs182913249	chr1:45571536-45571537	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368393	chr1:45571546-45571547	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs529811358	chr1:45571560-45571561	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141139092	chr1:45571568-45571569	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185797996	chr1:45571569-45571570	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538227528	chr1:45571578-45571579	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200997687	chr1:45571587-45571588	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552176479	chr1:45571605-45571606	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190168454	chr1:45571646-45571647	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375847652	chr1:45571655-45571656	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534258817	chr1:45571663-45571664	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45568200-45594600	Weak transcription	Right Atrium	heart
2	chr1:45569000-45578000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:45570600-45571200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:45570600-45572400	Weak transcription	HepG2	liver
5	chr1:45571400-45572400	ZNF genes & repeats	Fetal Stomach	stomach
6	chr1:45572400-45575000	Weak transcription	Fetal Stomach	stomach
7	chr1:45572400-45575000	Enhancers	HepG2	liver
8	chr1:45572800-45573200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:45573400-45574000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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