Variant report

Variant	nsv511266
Chromosome Location	chr4:130060230-130072652
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	ARID3A	chr4:130061750-130061931	K562	blood:	n/a	n/a
2	ARID3A	chr4:130067863-130068063	K562	blood:	n/a	n/a
3	ARID3A	chr4:130066502-130066850	K562	blood:	n/a	n/a
4	BHLHE40	chr4:130066166-130066205	K562	blood:	n/a	n/a
5	CEBPB	chr4:130066150-130066401	K562	blood:	n/a	n/a
6	CEBPB	chr4:130067703-130067942	K562	blood:	n/a	chr4:130067817-130067830
7	CHD2	chr4:130066224-130066250	K562	blood:	n/a	n/a
8	CTCF	chr4:130067920-130068070	GM06990	blood:	n/a	chr4:130067998-130068014 chr4:130067999-130068020 chr4:130067997-130068015
9	CTCF	chr4:130061960-130062110	AG10803	skin:	n/a	n/a
10	CTCF	chr4:130061820-130061970	RPTEC	kidney:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
11	CTCF	chr4:130061784-130061922	LNCaP	prostate:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
12	CTCF	chr4:130061720-130061870	HA-sp	spinal cord:	n/a	n/a
13	CTCF	chr4:130071501-130071559	Fibrobl	skin:	n/a	n/a
14	CTCF	chr4:130067900-130068050	HBMEC	blood vessel:	n/a	chr4:130067998-130068014 chr4:130067999-130068020 chr4:130067997-130068015
15	CTCF	chr4:130061800-130061950	AG04449	skin:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
16	CTCF	chr4:130061792-130061924	LNCaP	prostate:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
17	CTCF	chr4:130061740-130061890	AG09319	gingival:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
18	CTCF	chr4:130067920-130068070	GM12875	blood:	n/a	chr4:130067998-130068014 chr4:130067999-130068020 chr4:130067997-130068015
19	CTCF	chr4:130061760-130061910	BE2_C	brain:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
20	CTCF	chr4:130061760-130061910	MCF-7	breast:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
21	CTCF	chr4:130061820-130061970	Hela-S3	cervix:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
22	CTCF	chr4:130067900-130068050	GM12873	blood:	n/a	chr4:130067998-130068014 chr4:130067999-130068020 chr4:130067997-130068015
23	CTCF	chr4:130061720-130061870	BE2_C	brain:	n/a	n/a
24	CTCF	chr4:130067981-130068022	GM12878	blood:	n/a	chr4:130067998-130068014 chr4:130067999-130068020 chr4:130067997-130068015
25	CTCF	chr4:130067860-130068010	HCFaa	heart:	n/a	n/a
26	CTCF	chr4:130067880-130068030	Caco-2	colon:	n/a	chr4:130067998-130068014 chr4:130067999-130068020 chr4:130067997-130068015
27	CTCF	chr4:130061820-130061970	HFF	foreskin:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
28	CTCF	chr4:130061800-130061950	HPAF	blood vessel:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
29	CTCF	chr4:130061660-130061810	HAc	cerebellar:	n/a	n/a
30	CTCF	chr4:130061740-130061890	HMF	breast:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
31	CTCF	chr4:130061780-130061930	HMF	breast:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
32	CTCF	chr4:130067940-130068090	HepG2	liver:	n/a	chr4:130067998-130068014 chr4:130067999-130068020 chr4:130067997-130068015
33	CTCF	chr4:130071540-130071690	GM12869	blood:	n/a	n/a
34	CTCF	chr4:130061778-130061962	K562	blood:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
35	CTCF	chr4:130061760-130061910	HPAF	blood vessel:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
36	CTCF	chr4:130061704-130062021	K562	blood:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
37	CTCF	chr4:130067880-130068030	K562	blood:	n/a	chr4:130067998-130068014 chr4:130067999-130068020 chr4:130067997-130068015
38	CTCF	chr4:130061740-130061890	HPF	lung:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
39	CTCF	chr4:130061822-130061919	MCF-7	breast:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
40	CTCF	chr4:130061800-130061950	WERI-Rb-1	eye:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
41	CTCF	chr4:130061800-130061950	HRPEpiC	eye:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
42	CTCF	chr4:130067100-130067250	K562	blood:	n/a	n/a
43	CTCF	chr4:130067137-130067193	K562	blood:	n/a	n/a
44	CTCF	chr4:130061760-130061910	HBMEC	blood vessel:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
45	CTCF	chr4:130061785-130061985	HUVEC	blood vessel:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
46	CTCF	chr4:130067880-130068030	SK-N-SH_RA	brain:	n/a	chr4:130067998-130068014 chr4:130067999-130068020 chr4:130067997-130068015
47	CTCF	chr4:130067940-130068090	HMF	breast:	n/a	chr4:130067998-130068014 chr4:130067999-130068020 chr4:130067997-130068015
48	CTCF	chr4:130067818-130068153	K562	blood:	n/a	chr4:130067998-130068014 chr4:130067999-130068020 chr4:130067997-130068015
49	CTCF	chr4:130061780-130061930	HCPEpiC	choroid plexus:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885
50	CTCF	chr4:130061780-130061930	Hela-S3	cervix:	n/a	chr4:130061867-130061875 chr4:130061862-130061880 chr4:130061864-130061885

No.	Distal block	Cell Line	Cell type
1	chr4:130061469..130063287-chr4:130063449..130064968,2	K562	blood:
2	chr4:130061469..130063287-chr4:130063449..130064968,2	K562	blood:
3	chr4:130071377..130073525-chr4:130073844..130076001,2	MCF-7	breast:

Variant related genes	Relation type
ZSWIM5P3	TF binding region

Extended variants
information (count: 213 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:213 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11946237	chr4:130060230-130060231	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567095092	chr4:130060243-130060244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534373817	chr4:130060278-130060279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559158179	chr4:130060396-130060397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185819857	chr4:130060419-130060420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537907313	chr4:130060420-130060421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72927999	chr4:130060425-130060426	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs112570922	chr4:130060430-130060431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190293481	chr4:130060543-130060544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553634881	chr4:130060576-130060577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571976261	chr4:130060577-130060578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545617016	chr4:130060580-130060581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191367950	chr4:130060632-130060633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532507058	chr4:130060633-130060634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544683197	chr4:130060658-130060659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372196599	chr4:130060732-130060733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541261819	chr4:130060788-130060789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530082019	chr4:130060835-130060836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548633243	chr4:130060881-130060882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183506127	chr4:130060882-130060883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367636673	chr4:130060924-130060925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78384095	chr4:130060960-130060961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552815518	chr4:130060961-130060962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571051044	chr4:130060963-130060964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562935094	chr4:130060978-130060979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188573354	chr4:130061043-130061044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377331788	chr4:130061051-130061052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549826341	chr4:130061088-130061089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567998451	chr4:130061089-130061090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535448882	chr4:130061094-130061095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs337265	chr4:130061181-130061182	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs181027839	chr4:130061192-130061193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539307192	chr4:130061236-130061237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115786027	chr4:130061237-130061238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75719168	chr4:130061281-130061282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545338583	chr4:130061305-130061306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs151086976	chr4:130061326-130061327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562981585	chr4:130061332-130061333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141062876	chr4:130061433-130061434	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs75397756	chr4:130061438-130061439	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs186331580	chr4:130061461-130061462	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs17014264	chr4:130061546-130061547	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs34572975	chr4:130061656-130061657	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs552903569	chr4:130061702-130061703	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs190382909	chr4:130061794-130061795	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs531918676	chr4:130061878-130061879	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs550073043	chr4:130061978-130061979	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs568169851	chr4:130062011-130062012	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs73848935	chr4:130062040-130062041	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs139001221	chr4:130062070-130062071	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130059600-130060400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:130059800-130060400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr4:130059800-130060400	Enhancers	Pancreas	Pancrea
4	chr4:130060000-130060400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr4:130060000-130060400	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr4:130060000-130060400	Enhancers	Placenta Amnion	Placenta Amnion
7	chr4:130060000-130061600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:130060200-130060600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr4:130060200-130065800	Weak transcription	K562	blood
10	chr4:130060400-130061600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:130060400-130062800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:130060400-130063400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr4:130060400-130065800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr4:130060400-130066000	Weak transcription	Pancreas	Pancrea
15	chr4:130062800-130063000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:130062800-130063200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr4:130062800-130063200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr4:130062800-130063400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:130063000-130063200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:130063200-130065800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:130065800-130066000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr4:130065800-130066200	Active TSS	Adipose Nuclei	Adipose
23	chr4:130065800-130066200	Bivalent Enhancer	Left Ventricle	heart
24	chr4:130065800-130066200	Enhancers	HUVEC	blood vessel
25	chr4:130065800-130066200	Flanking Active TSS	K562	blood
26	chr4:130065800-130066400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:130065800-130066800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr4:130066000-130066400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:130066200-130067200	Active TSS	K562	blood
30	chr4:130066400-130066600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr4:130066400-130067000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr4:130066600-130066800	Flanking Bivalent TSS/Enh	HepG2	liver
33	chr4:130066600-130067000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr4:130067200-130068000	Enhancers	K562	blood

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