Variant report

Variant	esv3407522
Chromosome Location	chr2:64570548-64574546
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:64570860-64571010	Caco-2	colon:	n/a	n/a
2	CTCF	chr2:64572031-64572057	Lung_OC	lung:	n/a	n/a
3	HCFC1	chr2:64572145-64572467	K562	blood:	n/a	n/a
4	JUND	chr2:64573250-64573504	HepG2	liver:	n/a	chr2:64573352-64573364 chr2:64573353-64573362 chr2:64573357-64573364 chr2:64573352-64573363 chr2:64573354-64573362 chr2:64573354-64573361
5	MAFF	chr2:64572373-64572667	HepG2	liver:	n/a	chr2:64572505-64572523
6	MAFF	chr2:64573162-64573463	HepG2	liver:	n/a	chr2:64573248-64573266
7	MAFK	chr2:64573171-64573465	HepG2	liver:	n/a	chr2:64573293-64573304
8	MAFK	chr2:64573151-64573456	HepG2	liver:	n/a	chr2:64573293-64573304
9	MAFK	chr2:64572489-64572526	K562	blood:	n/a	chr2:64572506-64572521
10	MAFK	chr2:64572329-64572690	HepG2	liver:	n/a	chr2:64572506-64572521
11	MAFK	chr2:64572357-64572687	HepG2	liver:	n/a	chr2:64572506-64572521
12	MAFK	chr2:64572344-64572590	IMR90	lung:	n/a	chr2:64572506-64572521
13	SIX5	chr2:64572176-64572448	GM12878	blood:	n/a	n/a
14	SIX5	chr2:64572172-64572519	H1-hESC	embryonic stem cell:	n/a	n/a
15	SIX5	chr2:64572148-64572522	H1-hESC	embryonic stem cell:	n/a	n/a
16	STAT3	chr2:64572250-64572347	MCF10A-Er-Src	breast:	n/a	chr2:64572320-64572331
17	STAT3	chr2:64572167-64572400	MCF10A-Er-Src	breast:	n/a	chr2:64572320-64572331
18	STAT3	chr2:64572259-64572458	MCF10A-Er-Src	breast:	n/a	chr2:64572320-64572331
19	USF1	chr2:64570925-64571117	SK-N-SH_RA	brain:	n/a	chr2:64571010-64571019 chr2:64571009-64571022 chr2:64571011-64571020 chr2:64571005-64571026 chr2:64571010-64571021 chr2:64571011-64571020 chr2:64571012-64571021 chr2:64571023-64571034
20	USF1	chr2:64570892-64571089	HepG2	liver:	n/a	chr2:64571010-64571019 chr2:64571009-64571022 chr2:64571011-64571020 chr2:64571005-64571026 chr2:64571010-64571021 chr2:64571011-64571020 chr2:64571012-64571021 chr2:64571023-64571034
21	USF1	chr2:64570930-64571166	SK-N-SH	brain:	n/a	chr2:64571010-64571019 chr2:64571009-64571022 chr2:64571011-64571020 chr2:64571005-64571026 chr2:64571010-64571021 chr2:64571011-64571020 chr2:64571012-64571021 chr2:64571023-64571034
22	USF1	chr2:64570878-64571129	K562	blood:	n/a	chr2:64571010-64571019 chr2:64571009-64571022 chr2:64571011-64571020 chr2:64571005-64571026 chr2:64571010-64571021 chr2:64571011-64571020 chr2:64571012-64571021 chr2:64571023-64571034
23	USF1	chr2:64570851-64571165	K562	blood:	n/a	chr2:64571010-64571019 chr2:64571009-64571022 chr2:64571011-64571020 chr2:64571005-64571026 chr2:64571010-64571021 chr2:64571011-64571020 chr2:64571012-64571021 chr2:64571023-64571034
24	USF2	chr2:64570844-64571117	HepG2	liver:	n/a	chr2:64571010-64571019 chr2:64571009-64571022 chr2:64571011-64571020 chr2:64571005-64571026 chr2:64571010-64571021 chr2:64571011-64571020 chr2:64571012-64571021 chr2:64571023-64571034
25	USF2	chr2:64570880-64571175	Hela-S3	cervix:	n/a	chr2:64571010-64571019 chr2:64571009-64571022 chr2:64571011-64571020 chr2:64571005-64571026 chr2:64571010-64571021 chr2:64571011-64571020 chr2:64571012-64571021 chr2:64571023-64571034
26	ZNF143	chr2:64572161-64572474	GM12878	blood:	n/a	n/a
27	ZNF143	chr2:64572127-64572476	K562	blood:	n/a	n/a
28	ZNF143	chr2:64572138-64572483	Hela-S3	cervix:	n/a	n/a
29	ZNF143	chr2:64572107-64572543	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:64570999..64573990-chr2:64667729..64669508,2	K562	blood:
2	chr2:64564561..64566931-chr2:64570797..64573696,2	K562	blood:

Variant related genes	Relation type
ENSG00000238201	TF binding region

Extended variants
information (count: 128 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550455474	chr2:64570602-64570603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145784314	chr2:64570683-64570684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148925896	chr2:64570731-64570732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527329434	chr2:64570860-64570861	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs184021661	chr2:64570875-64570876	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs189671769	chr2:64570911-64570912	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs547647769	chr2:64570916-64570917	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs553241716	chr2:64570952-64570953	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs143673531	chr2:64570979-64570980	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs10203643	chr2:64571011-64571012	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs146748986	chr2:64571035-64571036	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs530015536	chr2:64571045-64571046	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs575707176	chr2:64571064-64571065	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs140378694	chr2:64571116-64571117	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs549663942	chr2:64571152-64571153	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs561301504	chr2:64571159-64571160	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs528487574	chr2:64571164-64571165	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs145576834	chr2:64571179-64571180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10206155	chr2:64571180-64571181	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs181071878	chr2:64571223-64571224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186055726	chr2:64571235-64571236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs137979973	chr2:64571250-64571251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537940319	chr2:64571288-64571289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557877959	chr2:64571297-64571298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546232039	chr2:64571298-64571299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535968907	chr2:64571446-64571447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190530872	chr2:64571447-64571448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566171392	chr2:64571480-64571481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533540258	chr2:64571487-64571488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35476947	chr2:64571497-64571498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs397984843	chr2:64571499-64571500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558216536	chr2:64571551-64571552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141736609	chr2:64571595-64571596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374035583	chr2:64571637-64571638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150111869	chr2:64571669-64571670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138547251	chr2:64571684-64571685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181868464	chr2:64571702-64571703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533976331	chr2:64571746-64571747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186356392	chr2:64571788-64571789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149239551	chr2:64571845-64571846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573330712	chr2:64571849-64571850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79330974	chr2:64571858-64571859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565100723	chr2:64571867-64571868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115105982	chr2:64571868-64571869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62136482	chr2:64571936-64571937	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs543307733	chr2:64571956-64571957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562737058	chr2:64571991-64571992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190687382	chr2:64572136-64572137	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs547928456	chr2:64572140-64572141	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs182877143	chr2:64572150-64572151	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64568400-64575800	Weak transcription	Fetal Muscle Leg	muscle
2	chr2:64569000-64572400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:64571600-64571800	Enhancers	H9 Cell Line	embryonic stem cell
4	chr2:64572200-64572600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:64572400-64572600	Enhancers	H9 Cell Line	embryonic stem cell
6	chr2:64572400-64572600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:64572600-64581800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:64573200-64573800	Enhancers	A549	lung
9	chr2:64573800-64576000	Weak transcription	A549	lung

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