Variant report

Variant	nsv441893
Chromosome Location	chr4:78276555-78281343
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	chr4:78279580-78279730	GM12873	blood:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
2	CTCF	chr4:78279600-78279750	HUVEC	blood vessel:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
3	CTCF	chr4:78279560-78279710	K562	blood:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
4	CTCF	chr4:78279575-78279801	GM10266	blood:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
5	CTCF	chr4:78279640-78279790	MCF-7	breast:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
6	CTCF	chr4:78280200-78280350	HEEpiC	esophagus:	n/a	n/a
7	CTCF	chr4:78279554-78279810	Medullo	brain:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
8	CTCF	chr4:78279640-78279790	GM12865	blood:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
9	CTCF	chr4:78279600-78279750	GM12866	blood:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
10	CTCF	chr4:78279860-78280010	HVMF	connective:	n/a	n/a
11	CTCF	chr4:78279570-78279744	SK-N-SH_RA	brain:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
12	CTCF	chr4:78279600-78279750	GM12874	blood:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
13	CTCF	chr4:78279596-78279768	GM20000	blood:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
14	CTCF	chr4:78279600-78279750	HMEC	breast:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
15	CTCF	chr4:78279600-78279750	WERI-Rb-1	eye:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
16	CTCF	chr4:78279600-78279750	GM12875	blood:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
17	CTCF	chr4:78279607-78279728	A549	lung:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
18	CTCF	chr4:78279620-78279770	AG09309	skin:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
19	CTCF	chr4:78279439-78279814	HepG2	liver:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
20	CTCF	chr4:78280260-78280410	HRPEpiC	eye:	n/a	n/a
21	CTCF	chr4:78280320-78280470	HBMEC	blood vessel:	n/a	n/a
22	CTCF	chr4:78279580-78279730	HPAF	blood vessel:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
23	CTCF	chr4:78279560-78279710	GM12801	blood:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
24	CTCF	chr4:78279560-78279710	HRE	kidney:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
25	CTCF	chr4:78279566-78279797	Hela-S3	cervix:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
26	CTCF	chr4:78279560-78279710	HEK293	kidney:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
27	CTCF	chr4:78279541-78279797	HUVEC	blood vessel:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
28	CTCF	chr4:78279620-78279770	NHEK	skin:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
29	CTCF	chr4:78279620-78279770	GM12875	blood:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
30	CTCF	chr4:78280240-78280390	GM12873	blood:	n/a	n/a
31	CTCF	chr4:78279300-78279450	GM12878	blood:	n/a	n/a
32	CTCF	chr4:78279600-78279750	HMF	breast:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
33	CTCF	chr4:78279560-78279800	Pancreas_OC	pancreas:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
34	CTCF	chr4:78279920-78280070	AG09319	gingival:	n/a	n/a
35	CTCF	chr4:78279610-78279810	GM12892	blood:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
36	CTCF	chr4:78279640-78279790	HCT-116	colon:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
37	CTCF	chr4:78279600-78279750	Hela-S3	cervix:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
38	CTCF	chr4:78280320-78280470	GM06990	blood:	n/a	n/a
39	CTCF	chr4:78279385-78279822	MCF-7	breast:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
40	CTCF	chr4:78279200-78279350	WI-38	lung:	n/a	n/a
41	CTCF	chr4:78279580-78279730	SK-N-SH_RA	brain:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
42	CTCF	chr4:78279920-78280070	AG04450	lung:	n/a	n/a
43	CTCF	chr4:78280540-78280690	HEEpiC	esophagus:	n/a	n/a
44	CTCF	chr4:78279600-78279750	HVMF	connective:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
45	CTCF	chr4:78279640-78279778	MCF-7	breast:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
46	CTCF	chr4:78279580-78279730	GM12874	blood:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
47	CTCF	chr4:78279580-78279730	BE2_C	brain:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
48	CTCF	chr4:78279860-78280010	GM06990	blood:	n/a	n/a
49	CTCF	chr4:78280280-78280430	HRPEpiC	eye:	n/a	n/a
50	CTCF	chr4:78279594-78279800	ProgFib	skin:	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	chr4:78161365..78162334-chr4:78279195..78280134,7	K562	blood:
2	chr4:78161324..78162321-chr4:78279149..78280134,4	MCF-7	breast:
3	chr4:78278110..78280443-chr4:78281438..78283101,2	MCF-7	breast:
4	chr4:78229797..78230625-chr4:78279333..78280102,3	MCF-7	breast:
5	chr1:118958475..118959178-chr4:78279470..78280113,2	MCF-7	breast:
6	chr4:78230184..78230702-chr4:78278364..78278865,2	MCF-7	breast:
7	chr4:78161721..78162270-chr4:78279119..78279681,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248831	TF binding region

Extended variants
information (count: 239 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:239 , 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	rs10000203	chr4:78276559-78276560	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371664535	chr4:78276582-78276583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537468171	chr4:78276614-78276615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527356871	chr4:78276616-78276617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536807251	chr4:78276630-78276631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370782424	chr4:78276631-78276632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577049181	chr4:78276632-78276633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553251693	chr4:78276633-78276634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570173320	chr4:78276635-78276636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113488931	chr4:78276668-78276669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572313938	chr4:78276682-78276683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374685815	chr4:78276688-78276689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs56029984	chr4:78276700-78276701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115200870	chr4:78276744-78276745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376232708	chr4:78276747-78276748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553356347	chr4:78276751-78276752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577028143	chr4:78276780-78276781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147917512	chr4:78276816-78276817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114161930	chr4:78276843-78276844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140132736	chr4:78276871-78276872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533769686	chr4:78276873-78276874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542333828	chr4:78276877-78276878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562209840	chr4:78276887-78276888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113736337	chr4:78276899-78276900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113208224	chr4:78276900-78276901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541395557	chr4:78276906-78276907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564337127	chr4:78276928-78276929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533645603	chr4:78276934-78276935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550232912	chr4:78276938-78276939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147701796	chr4:78276949-78276950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111456584	chr4:78276989-78276990	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs4318671	chr4:78277010-78277011	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs567770735	chr4:78277034-78277035	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs150185306	chr4:78277043-78277044	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs573346672	chr4:78277092-78277093	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs112173722	chr4:78277093-78277094	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs575634426	chr4:78277111-78277112	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs570374309	chr4:78277208-78277209	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs186075869	chr4:78277226-78277227	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs113271091	chr4:78277247-78277248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545189201	chr4:78277289-78277290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191421194	chr4:78277331-78277332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113518063	chr4:78277336-78277337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572535284	chr4:78277381-78277382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541557240	chr4:78277394-78277395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564481519	chr4:78277422-78277423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112592421	chr4:78277453-78277454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs117893429	chr4:78277461-78277462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs33936174	chr4:78277485-78277486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141783762	chr4:78277503-78277504	Enhancers Weak transcription	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:19 , 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	chr4:78275600-78276600	Enhancers	Fetal Muscle Leg	muscle
7	chr4:78276000-78276600	Enhancers	Fetal Kidney	kidney
8	chr4:78276000-78277000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:78276400-78281400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr4:78276600-78277000	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:78276600-78281200	Weak transcription	Fetal Kidney	kidney
12	chr4:78276800-78277600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:78276800-78277800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:78276800-78277800	Enhancers	NHEK	skin
15	chr4:78277000-78277800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:78277000-78277800	Enhancers	Fetal Muscle Leg	muscle
17	chr4:78277000-78277800	Enhancers	HMEC	breast
18	chr4:78277000-78278000	Enhancers	Fetal Heart	heart
19	chr4:78277400-78287800	Weak transcription	Fetal Thymus	thymus

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