Variant report

Variant	nsv1004756
Chromosome Location	chr2:35876185-35968024
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	CEBPB	chr2:35939882-35940380	A549	lung:	n/a	n/a
2	CEBPB	chr2:35913520-35913719	A549	lung:	n/a	n/a
3	CEBPB	chr2:35933609-35933948	IMR90	lung:	n/a	chr2:35933776-35933785 chr2:35933774-35933785 chr2:35933776-35933787
4	CEBPB	chr2:35933650-35933879	MCF-7	breast:	n/a	chr2:35933776-35933785 chr2:35933774-35933785 chr2:35933776-35933787
5	CEBPB	chr2:35931148-35931461	HepG2	liver:	n/a	chr2:35931306-35931319 chr2:35931306-35931317
6	CEBPB	chr2:35939980-35940327	K562	blood:	n/a	n/a
7	CEBPB	chr2:35939938-35940319	A549	lung:	n/a	n/a
8	CEBPB	chr2:35939944-35940305	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr2:35884866-35884899	HepG2	liver:	n/a	n/a
10	CEBPB	chr2:35939909-35940320	IMR90	lung:	n/a	n/a
11	CEBPB	chr2:35966616-35966957	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr2:35931181-35931345	H1-hESC	embryonic stem cell:	n/a	chr2:35931306-35931319 chr2:35931306-35931317
13	CEBPB	chr2:35933607-35933953	A549	lung:	n/a	chr2:35933776-35933785 chr2:35933774-35933785 chr2:35933776-35933787
14	CEBPB	chr2:35939874-35940327	HepG2	liver:	n/a	n/a
15	CEBPB	chr2:35966667-35966899	IMR90	lung:	n/a	n/a
16	CEBPB	chr2:35923382-35923646	HepG2	liver:	n/a	chr2:35923513-35923522 chr2:35923513-35923524 chr2:35923491-35923502 chr2:35923511-35923522 chr2:35923511-35923524
17	CEBPB	chr2:35939861-35940404	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr2:35933608-35933969	HepG2	liver:	n/a	chr2:35933776-35933785 chr2:35933774-35933785 chr2:35933776-35933787
19	CEBPB	chr2:35933490-35933969	Hela-S3	cervix:	n/a	chr2:35933776-35933785 chr2:35933774-35933785 chr2:35933776-35933787
20	CEBPB	chr2:35933609-35933943	H1-hESC	embryonic stem cell:	n/a	chr2:35933776-35933785 chr2:35933774-35933785 chr2:35933776-35933787
21	CEBPB	chr2:35966704-35966918	A549	lung:	n/a	n/a
22	CTCF	chr2:35956707-35956709	IMR90	lung:	n/a	n/a
23	CTCF	chr2:35876549-35876593	GM20000	blood:	n/a	n/a
24	CTCF	chr2:35930220-35930370	HPF	lung:	n/a	n/a
25	CTCF	chr2:35902100-35902250	WERI-Rb-1	eye:	n/a	n/a
26	CTCF	chr2:35895380-35895393	GM13976	blood:	n/a	n/a
27	CTCF	chr2:35933480-35933630	HAc	cerebellar:	n/a	n/a
28	CTCF	chr2:35902040-35902190	HEK293	kidney:	n/a	n/a
29	CTCF	chr2:35900066-35900109	GM10248	blood:	n/a	n/a
30	CTCF	chr2:35964402-35964423	GM20000	blood:	n/a	n/a
31	CTCF	chr2:35951400-35951550	AG10803	skin:	n/a	n/a
32	E2F4	chr2:35949019-35949512	MCF10A-Er-Src	breast:	n/a	n/a
33	E2F4	chr2:35966663-35966912	MCF10A-Er-Src	breast:	n/a	n/a
34	E2F4	chr2:35939895-35940138	MCF10A-Er-Src	breast:	n/a	n/a
35	E2F4	chr2:35902982-35903126	MCF10A-Er-Src	breast:	n/a	n/a
36	ELK1	chr2:35916630-35916756	K562	blood:	n/a	n/a
37	EP300	chr2:35939935-35940459	Hela-S3	cervix:	n/a	chr2:35940291-35940299
38	EP300	chr2:35933646-35933927	Hela-S3	cervix:	n/a	n/a
39	FAM48A	chr2:35880726-35880816	GM12878	blood:	n/a	n/a
40	FAM48A	chr2:35912177-35912270	GM12878	blood:	n/a	n/a
41	FOS	chr2:35966653-35967009	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr2:35940097-35940339	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr2:35966610-35967009	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr2:35966606-35967055	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr2:35966612-35967006	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr2:35940023-35940340	MCF10A-Er-Src	breast:	n/a	n/a
47	FOXA1	chr2:35918471-35918709	T-47D	breast:	n/a	chr2:35918562-35918577
48	FOXA1	chr2:35877032-35877249	T-47D	breast:	n/a	n/a
49	FOXA1	chr2:35877021-35877419	HepG2	liver:	n/a	n/a
50	FOXA1	chr2:35877015-35877330	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:35887668..35890004-chr2:35892119..35894663,2	K562	blood:
2	chr2:35878984..35880554-chr2:35880811..35883619,2	K562	blood:
3	chr2:35949877..35953265-chr2:35954228..35956588,3	MCF-7	breast:
4	chr2:35877173..35880679-chr2:35885712..35889508,3	MCF-7	breast:
5	chr2:35887668..35890004-chr2:35892119..35894663,2	K562	blood:
6	chr2:35878984..35880554-chr2:35880811..35883619,2	K562	blood:
7	chr2:35877173..35880679-chr2:35885712..35889508,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC007401.2.1-6	chr2:35949825-35950208	NONHSAT070075

Variant related genes	Relation type
MRPL50P1	TF binding region
ENSG00000234587	chromatin interactions

Extended variants
information (count: 2483 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:2483 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555792999	chr2:35876186-35876187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549305493	chr2:35876203-35876204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567627139	chr2:35876207-35876208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535035912	chr2:35876246-35876247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6543963	chr2:35876279-35876280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192749756	chr2:35876283-35876284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76021487	chr2:35876333-35876334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148548157	chr2:35876350-35876351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184488998	chr2:35876351-35876352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536508445	chr2:35876355-35876356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189391080	chr2:35876366-35876367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142944123	chr2:35876376-35876377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6741935	chr2:35876386-35876387	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs79964388	chr2:35876387-35876388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12472936	chr2:35876391-35876392	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs6755361	chr2:35876392-35876393	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs150636682	chr2:35876407-35876408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150531705	chr2:35876422-35876423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530738300	chr2:35876424-35876425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35297210	chr2:35876433-35876434	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs542689799	chr2:35876454-35876455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs71249718	chr2:35876458-35876459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12472938	chr2:35876465-35876466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559170544	chr2:35876486-35876487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369251795	chr2:35876599-35876600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531759822	chr2:35876613-35876614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182091083	chr2:35876626-35876627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139531399	chr2:35876675-35876676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532592437	chr2:35876707-35876708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550806040	chr2:35876726-35876727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114118569	chr2:35876743-35876744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs72786421	chr2:35876744-35876745	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs530497309	chr2:35876759-35876760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577438198	chr2:35876795-35876796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115408493	chr2:35876804-35876805	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs76084371	chr2:35876807-35876808	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs71394575	chr2:35876809-35876810	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs60953926	chr2:35876836-35876837	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs370862674	chr2:35876841-35876842	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs34553721	chr2:35876875-35876876	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs74760097	chr2:35876878-35876879	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs184505729	chr2:35876888-35876889	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs35504840	chr2:35876904-35876905	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs545052350	chr2:35876910-35876911	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs557112131	chr2:35876912-35876913	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs34963720	chr2:35876953-35876954	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs386644792	chr2:35876977-35876978	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs34286838	chr2:35876979-35876980	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs10193177	chr2:35876984-35876985	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs57617149	chr2:35877010-35877011	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35860000-35891000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:35876000-35876800	Enhancers	Rectal Mucosa Donor 29	rectum
3	chr2:35876200-35878600	Enhancers	Fetal Intestine Large	intestine
4	chr2:35876600-35877200	Enhancers	Fetal Intestine Small	intestine
5	chr2:35876800-35877200	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr2:35876800-35877200	Enhancers	Small Intestine	intestine
7	chr2:35877000-35877600	Enhancers	Liver	Liver
8	chr2:35891000-35892000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:35901800-35902000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:35902000-35902200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:35902000-35909000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:35902600-35903200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:35902800-35903600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr2:35907400-35907600	Enhancers	Pancreas	Pancrea
15	chr2:35908400-35909200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:35908400-35909200	Enhancers	Fetal Intestine Large	intestine
17	chr2:35909000-35909200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:35909200-35910800	Weak transcription	Fetal Intestine Large	intestine
19	chr2:35910000-35910200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:35910800-35911000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:35910800-35911000	Enhancers	Fetal Intestine Large	intestine
22	chr2:35917800-35918400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:35922800-35923600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:35937200-35955200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:35943200-35943400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:35947200-35947600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr2:35955000-35955800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr2:35955000-35955800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr2:35955200-35955400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:35955200-35955800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr2:35955200-35955800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:35955400-35955800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr2:35955600-35956000	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr2:35959400-35960000	Enhancers	Fetal Muscle Trunk	muscle
35	chr2:35962600-35963800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr2:35963600-35963800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr2:35963800-35971600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:35963800-35972000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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