Variant report

Variant	nsv4495
Chromosome Location	chr4:122310083-122355111
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	BCL3	chr4:122334423-122334652	GM12878	blood:	n/a	n/a
2	CEBPB	chr4:122351397-122351423	IMR90	lung:	n/a	n/a
3	CHD2	chr4:122312514-122312705	K562	blood:	n/a	n/a
4	CTCF	chr4:122342880-122343030	HRPEpiC	eye:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
5	CTCF	chr4:122342941-122343018	GM20000	blood:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
6	CTCF	chr4:122342880-122343030	BJ	skin:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
7	CTCF	chr4:122342860-122343010	AG09309	skin:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
8	CTCF	chr4:122342840-122342990	GM12865	blood:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
9	CTCF	chr4:122342820-122342970	RPTEC	kidney:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
10	CTCF	chr4:122342840-122342990	GM12872	blood:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
11	CTCF	chr4:122342880-122343030	GM12873	blood:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
12	CTCF	chr4:122342840-122342990	SAEC	small airway:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
13	CTCF	chr4:122342840-122342990	HCT-116	colon:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
14	CTCF	chr4:122342842-122343072	HUVEC	blood vessel:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
15	CTCF	chr4:122342900-122343050	WERI-Rb-1	eye:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
16	CTCF	chr4:122342860-122343010	HCM	heart:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
17	CTCF	chr4:122342797-122343106	K562	blood:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
18	CTCF	chr4:122342840-122342990	GM12874	blood:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
19	CTCF	chr4:122342920-122343070	HCT-116	colon:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
20	CTCF	chr4:122342920-122343070	MCF-7	breast:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
21	CTCF	chr4:122342920-122343070	HCFaa	heart:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
22	CTCF	chr4:122342880-122343030	GM12869	blood:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
23	CTCF	chr4:122342840-122342990	BE2_C	brain:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
24	CTCF	chr4:122342900-122343050	GM12865	blood:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
25	CTCF	chr4:122342860-122343010	AG10803	skin:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
26	CTCF	chr4:122342860-122343010	HCPEpiC	choroid plexus:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
27	CTCF	chr4:122342880-122343030	GM12871	blood:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
28	CTCF	chr4:122342900-122343050	MCF-7	breast:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
29	CTCF	chr4:122342900-122343050	GM12864	blood:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
30	CTCF	chr4:122342860-122343010	GM12873	blood:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
31	CTCF	chr4:122342880-122343030	NHDF-neo	bronchial:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
32	CTCF	chr4:122342840-122342990	HFF	foreskin:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
33	CTCF	chr4:122342920-122343070	HMF	breast:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
34	CTCF	chr4:122342940-122343090	RPTEC	kidney:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
35	CTCF	chr4:122342860-122343010	HMF	breast:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
36	CTCF	chr4:122342880-122343030	HCPEpiC	choroid plexus:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
37	CTCF	chr4:122342820-122342970	GM12872	blood:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
38	CTCF	chr4:122342853-122343069	K562	blood:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
39	CTCF	chr4:122342900-122343050	NHEK	skin:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
40	CTCF	chr4:122335769-122335810	Lung_OC	lung:	n/a	n/a
41	CTCF	chr4:122342858-122343034	GM13977	blood:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
42	CTCF	chr4:122342900-122343050	HRE	kidney:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
43	CTCF	chr4:122342940-122343090	GM12873	blood:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
44	CTCF	chr4:122342900-122343050	HVMF	connective:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
45	CTCF	chr4:122342834-122343078	Medullo	brain:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
46	CTCF	chr4:122342820-122342970	Hela-S3	cervix:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
47	CTCF	chr4:122342840-122342990	HBMEC	blood vessel:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
48	CTCF	chr4:122342840-122342990	HRE	kidney:	n/a	chr4:122342943-122342964 chr4:122342949-122342965
49	CTCF	chr4:122343040-122343190	HFF	foreskin:	n/a	n/a
50	CTCF	chr4:122342920-122343070	HCM	heart:	n/a	chr4:122342943-122342964 chr4:122342949-122342965

No.	Distal block	Cell Line	Cell type
1	chr4:122291624..122292430-chr4:122342879..122343479,3	MCF-7	breast:
2	chr10:126848159..126851060-chr4:122320414..122322229,2	MCF-7	breast:
3	chr4:122198494..122199456-chr4:122342475..122343364,3	MCF-7	breast:
4	chr4:122305121..122307560-chr4:122314123..122316320,2	K562	blood:

Variant related genes	Relation type
ENSG00000264927	TF binding region
ENSG00000175029	chromatin interactions

Extended variants
information (count: 623 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:623 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186781066	chr4:122310095-122310096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374021148	chr4:122310120-122310121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11933463	chr4:122310121-122310122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566791875	chr4:122310125-122310126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114619556	chr4:122310127-122310128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548223471	chr4:122310136-122310137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568104321	chr4:122310157-122310158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532774	chr4:122310161-122310162	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs191231829	chr4:122310207-122310208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34720684	chr4:122310212-122310213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182977512	chr4:122310225-122310226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554795351	chr4:122310232-122310233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540037612	chr4:122310233-122310234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs691923	chr4:122310271-122310272	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs573511991	chr4:122310312-122310313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs28830014	chr4:122310324-122310325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533083706	chr4:122310361-122310362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150609442	chr4:122310365-122310366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544182067	chr4:122310380-122310381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564192519	chr4:122310413-122310414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139811949	chr4:122310419-122310420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540447553	chr4:122310446-122310447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191202004	chr4:122310462-122310463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577111024	chr4:122310477-122310478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182280069	chr4:122310578-122310579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187614653	chr4:122310587-122310588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568761858	chr4:122310611-122310612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373499326	chr4:122310684-122310685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs507043	chr4:122310711-122310712	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs570956669	chr4:122310772-122310773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1513696	chr4:122310776-122310777	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs149795716	chr4:122310825-122310826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373981384	chr4:122310830-122310831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368663167	chr4:122310857-122310858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145034583	chr4:122310860-122310861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556098432	chr4:122310912-122310913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs691684	chr4:122310963-122310964	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs369022826	chr4:122310993-122310994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563033493	chr4:122310999-122311000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs55813987	chr4:122311018-122311019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201803497	chr4:122311020-122311021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113715690	chr4:122311021-122311022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544242658	chr4:122311141-122311142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs557454061	chr4:122311160-122311161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577712793	chr4:122311195-122311196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs79224658	chr4:122311203-122311204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560152151	chr4:122311204-122311205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529054516	chr4:122311221-122311222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192536614	chr4:122311226-122311227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561920823	chr4:122311245-122311246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Autism	22495311	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
Melanoma	18172304	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	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
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Clear cell renal cell carcinoma	18791270	CNVD
Acute myeloid leukemia	19651601	CNVD
Gastric cancer	16891809	CNVD
Olfactory neuroblastoma	18408657	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122308000-122312000	Enhancers	Fetal Heart	heart
2	chr4:122308200-122310600	Weak transcription	Fetal Lung	lung
3	chr4:122310000-122310400	Enhancers	Colon Smooth Muscle	Colon
4	chr4:122310400-122313400	Weak transcription	Colon Smooth Muscle	Colon
5	chr4:122310600-122311800	Enhancers	Fetal Lung	lung
6	chr4:122311800-122314200	Weak transcription	Fetal Lung	lung
7	chr4:122312000-122313200	Weak transcription	Fetal Heart	heart
8	chr4:122313200-122315000	Enhancers	Fetal Heart	heart
9	chr4:122313400-122313600	Enhancers	Right Atrium	heart
10	chr4:122313400-122313600	Enhancers	Right Ventricle	heart
11	chr4:122313400-122313800	Enhancers	Colon Smooth Muscle	Colon
12	chr4:122313400-122314000	Enhancers	Rectal Smooth Muscle	rectum
13	chr4:122313400-122314000	Enhancers	Stomach Smooth Muscle	stomach
14	chr4:122313400-122314800	Enhancers	Left Ventricle	heart
15	chr4:122313600-122314400	Weak transcription	Right Ventricle	heart
16	chr4:122313600-122319000	Weak transcription	Right Atrium	heart
17	chr4:122313800-122318600	Weak transcription	Colon Smooth Muscle	Colon
18	chr4:122314000-122318600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr4:122314000-122318800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr4:122314400-122314600	Enhancers	Right Ventricle	heart
21	chr4:122314600-122319000	Weak transcription	Right Ventricle	heart
22	chr4:122314800-122318600	Weak transcription	Left Ventricle	heart
23	chr4:122315000-122318600	Weak transcription	Fetal Heart	heart
24	chr4:122318600-122318800	Enhancers	Colon Smooth Muscle	Colon
25	chr4:122318600-122319200	Enhancers	Fetal Heart	heart
26	chr4:122318600-122319400	Enhancers	Left Ventricle	heart
27	chr4:122318600-122319800	Enhancers	Fetal Stomach	stomach
28	chr4:122318600-122320000	Enhancers	Rectal Smooth Muscle	rectum
29	chr4:122318800-122319600	Enhancers	Stomach Smooth Muscle	stomach
30	chr4:122318800-122319800	Flanking Active TSS	Colon Smooth Muscle	Colon
31	chr4:122319000-122319400	Enhancers	Right Atrium	heart
32	chr4:122319000-122319400	Enhancers	Right Ventricle	heart
33	chr4:122319000-122320000	Enhancers	Fetal Muscle Leg	muscle
34	chr4:122319200-122319400	Flanking Active TSS	Fetal Heart	heart
35	chr4:122319200-122319600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr4:122319400-122319600	Enhancers	Fetal Heart	heart
37	chr4:122319600-122319800	Flanking Active TSS	Fetal Heart	heart
38	chr4:122319800-122320000	Enhancers	Colon Smooth Muscle	Colon
39	chr4:122319800-122320200	Enhancers	Fetal Heart	heart
40	chr4:122331200-122331600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
41	chr4:122331600-122333400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr4:122331800-122333000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:122331800-122333200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr4:122332000-122332400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr4:122332000-122332600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr4:122332000-122332800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr4:122332000-122332800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr4:122332000-122332800	Enhancers	Left Ventricle	heart
49	chr4:122332600-122332800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr4:122333000-122333200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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