Variant report

Variant	nsv964256
Chromosome Location	chr4:78275995-78288301
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	chr4:78279637-78279791	MCF-7	breast:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
2	CTCF	chr4:78280140-78280290	NHDF-neo	bronchial:	n/a	n/a
3	CTCF	chr4:78279940-78280090	AoAF	blood vessel:	n/a	n/a
4	CTCF	chr4:78287960-78288110	BE2_C	brain:	n/a	n/a
5	CTCF	chr4:78288034-78288357	ProgFib	skin:	n/a	chr4:78288200-78288218 chr4:78288203-78288216 chr4:78288202-78288223
6	CTCF	chr4:78279620-78279770	GM12868	blood:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
7	CTCF	chr4:78279600-78279750	Caco-2	colon:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
8	CTCF	chr4:78279519-78279800	GM13977	blood:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
9	CTCF	chr4:78288001-78288403	K562	blood:	n/a	chr4:78288200-78288218 chr4:78288203-78288216 chr4:78288202-78288223
10	CTCF	chr4:78279579-78279779	GM13976	blood:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
11	CTCF	chr4:78279620-78279770	HFF	foreskin:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
12	CTCF	chr4:78279900-78280050	HPAF	blood vessel:	n/a	n/a
13	CTCF	chr4:78288000-78288527	K562	blood:	n/a	chr4:78288200-78288218 chr4:78288203-78288216 chr4:78288202-78288223
14	CTCF	chr4:78287420-78287570	HBMEC	blood vessel:	n/a	n/a
15	CTCF	chr4:78279610-78279810	GM12892	blood:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
16	CTCF	chr4:78288055-78288363	H1-hESC	embryonic stem cell:	n/a	chr4:78288200-78288218 chr4:78288203-78288216 chr4:78288202-78288223
17	CTCF	chr4:78287960-78288110	HCPEpiC	choroid plexus:	n/a	n/a
18	CTCF	chr4:78287940-78288090	BE2_C	brain:	n/a	n/a
19	CTCF	chr4:78279447-78279887	GM12878	blood:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
20	CTCF	chr4:78279600-78279750	HCM	heart:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
21	CTCF	chr4:78279960-78280110	WI-38	lung:	n/a	n/a
22	CTCF	chr4:78279580-78279730	GM12872	blood:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
23	CTCF	chr4:78287940-78288090	GM12875	blood:	n/a	n/a
24	CTCF	chr4:78279600-78279750	HRPEpiC	eye:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
25	CTCF	chr4:78279612-78279802	A549	lung:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
26	CTCF	chr4:78279580-78279730	A549	lung:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
27	CTCF	chr4:78279620-78279770	BJ	skin:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
28	CTCF	chr4:78279491-78279865	HCT-116	colon:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
29	CTCF	chr4:78279520-78279670	NHLF	lung:	n/a	n/a
30	CTCF	chr4:78279980-78280130	GM12864	blood:	n/a	n/a
31	CTCF	chr4:78279100-78279250	GM12873	blood:	n/a	n/a
32	CTCF	chr4:78287960-78288110	HPF	lung:	n/a	n/a
33	CTCF	chr4:78279620-78279770	NB4	blood:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
34	CTCF	chr4:78287940-78288090	GM12865	blood:	n/a	n/a
35	CTCF	chr4:78279580-78279730	HRE	kidney:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
36	CTCF	chr4:78280180-78280330	AG04450	lung:	n/a	n/a
37	CTCF	chr4:78280200-78280350	HEEpiC	esophagus:	n/a	n/a
38	CTCF	chr4:78279360-78279866	HCT-116	colon:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
39	CTCF	chr4:78287940-78288090	K562	blood:	n/a	n/a
40	CTCF	chr4:78287800-78287950	AG04449	skin:	n/a	n/a
41	CTCF	chr4:78280080-78280230	GM12872	blood:	n/a	n/a
42	CTCF	chr4:78287920-78288070	GM12869	blood:	n/a	n/a
43	CTCF	chr4:78279640-78279790	HCT-116	colon:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
44	CTCF	chr4:78287940-78288090	GM12878	blood:	n/a	n/a
45	CTCF	chr4:78279560-78279710	GM12870	blood:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
46	CTCF	chr4:78279662-78279767	MCF-7	breast:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
47	CTCF	chr4:78280080-78280230	AG04449	skin:	n/a	n/a
48	CTCF	chr4:78279560-78279710	GM06990	blood:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
49	CTCF	chr4:78287960-78288110	AoAF	blood vessel:	n/a	n/a
50	CTCF	chr4:78279600-78279750	GM06990	blood:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687

No.	Distal block	Cell Line	Cell type
1	chr1:118958475..118959178-chr4:78279470..78280113,2	MCF-7	breast:
2	chr4:78161365..78162334-chr4:78279195..78280134,7	K562	blood:
3	chr4:78287359..78291622-chr4:78351702..78357008,5	MCF-7	breast:
4	chr4:78287667..78288571-chr4:78353781..78354626,3	MCF-7	breast:
5	chr4:78278110..78280443-chr4:78281438..78283101,2	MCF-7	breast:
6	chr4:78287913..78288436-chr4:78619834..78620825,2	MCF-7	breast:
7	chr4:78161721..78162270-chr4:78279119..78279681,2	MCF-7	breast:
8	chr4:78278110..78280443-chr4:78281438..78283101,2	MCF-7	breast:
9	chr4:78270382..78272050-chr4:78274178..78276131,2	K562	blood:
10	chr4:78236163..78238480-chr4:78287943..78289669,2	K562	blood:
11	chr4:78161324..78162321-chr4:78279149..78280134,4	MCF-7	breast:
12	chr4:78229797..78230625-chr4:78279333..78280102,3	MCF-7	breast:
13	chr4:78230184..78230702-chr4:78278364..78278865,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248831	TF binding region

Extended variants
information (count: 588 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:588 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540162094	chr4:78276029-78276030	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs189093011	chr4:78276041-78276042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181742952	chr4:78276062-78276063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560847935	chr4:78276084-78276085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73827157	chr4:78276087-78276088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113249246	chr4:78276118-78276119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139078825	chr4:78276146-78276147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184714966	chr4:78276171-78276172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568481324	chr4:78276212-78276213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527967278	chr4:78276219-78276220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548142898	chr4:78276221-78276222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529761642	chr4:78276231-78276232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546499509	chr4:78276232-78276233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532736159	chr4:78276236-78276237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs111998235	chr4:78276245-78276246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540070323	chr4:78276258-78276259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556481961	chr4:78276265-78276266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113794921	chr4:78276269-78276270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537557192	chr4:78276305-78276306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188029242	chr4:78276315-78276316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574127113	chr4:78276320-78276321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566613733	chr4:78276349-78276350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75567260	chr4:78276350-78276351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553693828	chr4:78276368-78276369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576963308	chr4:78276388-78276389	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs148787715	chr4:78276398-78276399	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs565569237	chr4:78276420-78276421	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs4309858	chr4:78276424-78276425	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs554212465	chr4:78276427-78276428	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs542370713	chr4:78276429-78276430	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs562045465	chr4:78276430-78276431	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs78413797	chr4:78276441-78276442	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs548104766	chr4:78276469-78276470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374848973	chr4:78276537-78276538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552544561	chr4:78276551-78276552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10000203	chr4:78276559-78276560	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs371664535	chr4:78276582-78276583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537468171	chr4:78276614-78276615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527356871	chr4:78276616-78276617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536807251	chr4:78276630-78276631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs370782424	chr4:78276631-78276632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577049181	chr4:78276632-78276633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553251693	chr4:78276633-78276634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570173320	chr4:78276635-78276636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113488931	chr4:78276668-78276669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572313938	chr4:78276682-78276683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374685815	chr4:78276688-78276689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs56029984	chr4:78276700-78276701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115200870	chr4:78276744-78276745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376232708	chr4:78276747-78276748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
lymphocytic leukemia	21291569	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
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78271800-78276800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr4:78272000-78276800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:78272000-78277000	Weak transcription	HMEC	breast
4	chr4:78273800-78277000	Weak transcription	Fetal Heart	heart
5	chr4:78275400-78277400	Enhancers	Fetal Thymus	thymus
6	chr4:78275600-78276200	Enhancers	Thymus	Thymus
7	chr4:78275600-78276400	Enhancers	Primary B cells from peripheral blood	blood
8	chr4:78275600-78276600	Enhancers	Fetal Muscle Leg	muscle
9	chr4:78276000-78276600	Enhancers	Fetal Kidney	kidney
10	chr4:78276000-78277000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:78276400-78281400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr4:78276600-78277000	Weak transcription	Fetal Muscle Leg	muscle
13	chr4:78276600-78281200	Weak transcription	Fetal Kidney	kidney
14	chr4:78276800-78277600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:78276800-78277800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:78276800-78277800	Enhancers	NHEK	skin
17	chr4:78277000-78277800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:78277000-78277800	Enhancers	Fetal Muscle Leg	muscle
19	chr4:78277000-78277800	Enhancers	HMEC	breast
20	chr4:78277000-78278000	Enhancers	Fetal Heart	heart
21	chr4:78277400-78287800	Weak transcription	Fetal Thymus	thymus
22	chr4:78281400-78281600	Enhancers	Fetal Kidney	kidney
23	chr4:78281400-78282000	Enhancers	Primary B cells from peripheral blood	blood
24	chr4:78281600-78282000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:78281600-78282000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:78282600-78283000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:78282800-78283400	Enhancers	H9 Cell Line	embryonic stem cell
28	chr4:78282800-78283400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr4:78283000-78283200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
30	chr4:78283000-78283600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr4:78283200-78283400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:78283200-78283600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr4:78285400-78285600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr4:78287200-78289200	Enhancers	Fetal Muscle Leg	muscle
35	chr4:78287800-78289600	Enhancers	Fetal Thymus	thymus

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