Variant report

Variant	nsv879858
Chromosome Location	chr4:121703336-121747335
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	chr4:121704092-121704827	IMR90	lung:	n/a	chr4:121704325-121704338 chr4:121704325-121704338 chr4:121704196-121704209
2	CTCF	chr4:121730640-121730790	GM12866	blood:	n/a	n/a
3	CTCF	chr4:121730780-121730930	WERI-Rb-1	eye:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
4	CTCF	chr4:121730788-121730862	Spleen_OC	spleen:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
5	CTCF	chr4:121730740-121730890	HCM	heart:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
6	CTCF	chr4:121730786-121730889	Kidney_OC	kidney:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
7	CTCF	chr4:121730740-121730890	HBMEC	blood vessel:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
8	CTCF	chr4:121730819-121730864	GM20000	blood:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
9	CTCF	chr4:121730753-121730943	LNCaP	prostate:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
10	CTCF	chr4:121730739-121730963	HUVEC	blood vessel:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
11	CTCF	chr4:121730780-121730930	HCPEpiC	choroid plexus:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
12	CTCF	chr4:121730740-121730890	AG04450	lung:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
13	CTCF	chr4:121730760-121730910	GM12872	blood:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
14	CTCF	chr4:121730800-121730950	GM12872	blood:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
15	CTCF	chr4:121730777-121730931	LNCaP	prostate:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
16	CTCF	chr4:121730780-121730930	HA-sp	spinal cord:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
17	CTCF	chr4:121730860-121731010	HFF-Myc	foreskin:	n/a	n/a
18	CTCF	chr4:121730700-121730850	HRPEpiC	eye:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
19	CTCF	chr4:121730800-121730950	GM12864	blood:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
20	CTCF	chr4:121730751-121730955	GM12878	blood:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
21	CTCF	chr4:121730780-121730930	AG04449	skin:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
22	CTCF	chr4:121723661-121723744	Kidney_OC	kidney:	n/a	n/a
23	CTCF	chr4:121730740-121730890	HCPEpiC	choroid plexus:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
24	CTCF	chr4:121730780-121730930	HPAF	blood vessel:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
25	CTCF	chr4:121730780-121730930	HCT-116	colon:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
26	CTCF	chr4:121730676-121731029	GM12878	blood:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
27	CTCF	chr4:121730740-121730890	AoAF	blood vessel:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
28	CTCF	chr4:121730840-121730990	K562	blood:	n/a	n/a
29	CTCF	chr4:121730800-121730950	MCF-7	breast:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
30	CTCF	chr4:121730780-121730930	GM12875	blood:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
31	CTCF	chr4:121745040-121745190	GM12874	blood:	n/a	n/a
32	CTCF	chr4:121730780-121730930	GM12864	blood:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
33	CTCF	chr4:121730760-121730910	AoAF	blood vessel:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
34	CTCF	chr4:121730760-121730910	NB4	blood:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
35	CTCF	chr4:121730772-121730932	Hela-S3	cervix:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
36	CTCF	chr4:121730800-121730950	HEK293	kidney:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
37	CTCF	chr4:121730760-121730910	GM12873	blood:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
38	CTCF	chr4:121730780-121730930	HMEC	breast:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
39	CTCF	chr4:121730776-121730859	Lung_OC	lung:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
40	CTCF	chr4:121730740-121730890	GM12864	blood:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
41	CTCF	chr4:121730780-121730930	HFF	foreskin:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
42	CTCF	chr4:121730720-121730870	K562	blood:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
43	CTCF	chr4:121730760-121730910	GM12865	blood:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
44	CTCF	chr4:121730780-121730930	GM12865	blood:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
45	CTCF	chr4:121723667-121723681	GM20000	blood:	n/a	n/a
46	CTCF	chr4:121730820-121730970	HAc	cerebellar:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
47	CTCF	chr4:121730780-121730930	HepG2	liver:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
48	CTCF	chr4:121730780-121730930	AG09319	gingival:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
49	CTCF	chr4:121730780-121730930	HVMF	connective:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
50	CTCF	chr4:121730780-121730930	GM12871	blood:	n/a	chr4:121730831-121730849 chr4:121730826-121730847

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:121745652..121748462-chr4:121750150..121752192,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-550P	TF binding region
PRDM5	TF binding region

Extended variants
information (count: 1884 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1884 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3804168	chr4:121703336-121703337	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149389693	chr4:121703340-121703341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144721220	chr4:121703364-121703365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148524899	chr4:121703424-121703425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538395174	chr4:121703442-121703443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558073024	chr4:121703458-121703459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs3804169	chr4:121703466-121703467	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs3827584	chr4:121703477-121703478	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs568011338	chr4:121703483-121703484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182133764	chr4:121703505-121703506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573297186	chr4:121703546-121703547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6823191	chr4:121703563-121703564	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs75558997	chr4:121703570-121703571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74692462	chr4:121703573-121703574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76217839	chr4:121703655-121703656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545162495	chr4:121703660-121703661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556404373	chr4:121703684-121703685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185895250	chr4:121703751-121703752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34821143	chr4:121703762-121703763	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs17051254	chr4:121703782-121703783	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs529298105	chr4:121703787-121703788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534164139	chr4:121703798-121703799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569288182	chr4:121703821-121703822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369519919	chr4:121703837-121703838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537968980	chr4:121703846-121703847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374647301	chr4:121703889-121703890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376783577	chr4:121703904-121703905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146229556	chr4:121703906-121703907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541128089	chr4:121703921-121703922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571485759	chr4:121703924-121703925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534169174	chr4:121703946-121703947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561374615	chr4:121703968-121703969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370929151	chr4:121704081-121704082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114676795	chr4:121704090-121704091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs79346855	chr4:121704137-121704138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555906456	chr4:121704161-121704162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190308380	chr4:121704187-121704188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112322821	chr4:121704199-121704200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111789998	chr4:121704202-121704203	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs111264286	chr4:121704214-121704215	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs544763976	chr4:121704224-121704225	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs559096296	chr4:121704230-121704231	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs572268428	chr4:121704246-121704247	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs139420132	chr4:121704266-121704267	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs561127894	chr4:121704291-121704292	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs75957404	chr4:121704328-121704329	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs369462603	chr4:121704338-121704339	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs144143198	chr4:121704364-121704365	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs531759050	chr4:121704367-121704368	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs551579588	chr4:121704380-121704381	Weak transcription Enhancers Flanking Active TSS	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:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121671800-121728600	Weak transcription	Left Ventricle	heart
2	chr4:121672000-121722400	Weak transcription	Right Ventricle	heart
3	chr4:121672400-121728800	Weak transcription	Aorta	Aorta
4	chr4:121672400-121728800	Weak transcription	Fetal Stomach	stomach
5	chr4:121673000-121705200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:121673000-121722400	Weak transcription	Fetal Muscle Leg	muscle
7	chr4:121673000-121737400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr4:121677000-121707800	Weak transcription	Psoas Muscle	Psoas
9	chr4:121677200-121714000	Weak transcription	Fetal Intestine Large	intestine
10	chr4:121677200-121723400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:121679600-121721800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:121686000-121705200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:121690600-121715800	Weak transcription	Lung	lung
14	chr4:121690600-121719600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:121690600-121728800	Weak transcription	Fetal Intestine Small	intestine
16	chr4:121691200-121705400	Weak transcription	HSMM	muscle
17	chr4:121691200-121722200	Weak transcription	Ovary	ovary
18	chr4:121693400-121703600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr4:121695800-121730000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr4:121697200-121706200	Weak transcription	Pancreas	Pancrea
21	chr4:121698200-121705400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:121699200-121728200	Weak transcription	Fetal Lung	lung
23	chr4:121701400-121707800	Weak transcription	Small Intestine	intestine
24	chr4:121702800-121722200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:121703000-121704400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr4:121703000-121712000	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr4:121703200-121704200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr4:121703600-121704000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr4:121703600-121704200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:121703600-121704400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr4:121703800-121704400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr4:121704200-121704600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:121704200-121706600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr4:121704400-121704800	Enhancers	Adipose Nuclei	Adipose
35	chr4:121704400-121714600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr4:121704400-121715000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr4:121704400-121724600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr4:121704600-121705400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:121705200-121705600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:121705200-121705600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr4:121705400-121705800	Strong transcription	HSMM	muscle
42	chr4:121705400-121706000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr4:121705400-121712600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:121705600-121721600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:121705600-121722000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:121705800-121716600	Weak transcription	HSMM	muscle
47	chr4:121706000-121706200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr4:121706000-121720400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr4:121706200-121706400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr4:121706200-121706400	Enhancers	Pancreas	Pancrea

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