Variant report

Variant	esv3388448
Chromosome Location	chr4:78275408-78288612
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	AoAF	blood vessel:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
2	CTCF	chr4:78279562-78279797	Spleen_OC	spleen:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
3	CTCF	chr4:78288086-78288252	IMR90	lung:	n/a	chr4:78288200-78288218 chr4:78288203-78288216 chr4:78288202-78288223
4	CTCF	chr4:78279558-78279779	H1-hESC	embryonic stem cell:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
5	CTCF	chr4:78288016-78288388	Gliobla	brain:	n/a	chr4:78288200-78288218 chr4:78288203-78288216 chr4:78288202-78288223
6	CTCF	chr4:78279445-78279843	K562	blood:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
7	CTCF	chr4:78279536-78279755	A549	lung:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
8	CTCF	chr4:78279550-78279808	K562	blood:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
9	CTCF	chr4:78287820-78288070	A549	lung:	n/a	n/a
10	CTCF	chr4:78279600-78279750	GM06990	blood:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
11	CTCF	chr4:78279600-78279750	HMEC	breast:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
12	CTCF	chr4:78279980-78280130	GM12864	blood:	n/a	n/a
13	CTCF	chr4:78279579-78279779	GM13976	blood:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
14	CTCF	chr4:78279608-78279807	Fibrobl	skin:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
15	CTCF	chr4:78279600-78279750	Caco-2	colon:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
16	CTCF	chr4:78279600-78279812	GM19240	blood:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
17	CTCF	chr4:78279860-78280010	HVMF	connective:	n/a	n/a
18	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
19	CTCF	chr4:78287960-78288110	GM12871	blood:	n/a	n/a
20	CTCF	chr4:78279554-78279803	GM10248	blood:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
21	CTCF	chr4:78279620-78279770	BJ	skin:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
22	CTCF	chr4:78279480-78279630	GM12868	blood:	n/a	n/a
23	CTCF	chr4:78287995-78288372	A549	lung:	n/a	chr4:78288200-78288218 chr4:78288203-78288216 chr4:78288202-78288223
24	CTCF	chr4:78279600-78279750	GM12866	blood:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
25	CTCF	chr4:78287960-78288110	HCM	heart:	n/a	n/a
26	CTCF	chr4:78279484-78279877	K562	blood:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
27	CTCF	chr4:78275880-78276030	GM12866	blood:	n/a	n/a
28	CTCF	chr4:78287960-78288110	GM12864	blood:	n/a	n/a
29	CTCF	chr4:78279604-78279795	GM19239	blood:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
30	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
31	CTCF	chr4:78279940-78280090	AoAF	blood vessel:	n/a	n/a
32	CTCF	chr4:78279560-78279710	HRE	kidney:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
33	CTCF	chr4:78288079-78288336	Pancreas_OC	pancreas:	n/a	chr4:78288200-78288218 chr4:78288203-78288216 chr4:78288202-78288223
34	CTCF	chr4:78288033-78288386	MCF-7	breast:	n/a	chr4:78288200-78288218 chr4:78288203-78288216 chr4:78288202-78288223
35	CTCF	chr4:78279520-78279670	HVMF	connective:	n/a	n/a
36	CTCF	chr4:78279519-78279800	GM13977	blood:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
37	CTCF	chr4:78287960-78288110	HVMF	connective:	n/a	n/a
38	CTCF	chr4:78288015-78288403	GM12891	blood:	n/a	chr4:78288200-78288218 chr4:78288203-78288216 chr4:78288202-78288223
39	CTCF	chr4:78279640-78279790	MCF-7	breast:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
40	CTCF	chr4:78279620-78279770	AG09319	gingival:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
41	CTCF	chr4:78280280-78280430	HRPEpiC	eye:	n/a	n/a
42	CTCF	chr4:78279543-78279786	LNCaP	prostate:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
43	CTCF	chr4:78287940-78288090	NHEK	skin:	n/a	n/a
44	CTCF	chr4:78287940-78288090	RPTEC	kidney:	n/a	n/a
45	CTCF	chr4:78279580-78279730	GM12869	blood:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
46	CTCF	chr4:78279518-78279771	SK-N-SH_RA	brain:	n/a	chr4:78279670-78279686 chr4:78279664-78279685 chr4:78279676-78279683 chr4:78279671-78279684 chr4:78279669-78279687
47	CTCF	chr4:78280200-78280350	HEEpiC	esophagus:	n/a	n/a
48	CTCF	chr4:78280060-78280210	HAc	cerebellar:	n/a	n/a
49	CTCF	chr4:78288018-78288404	Fibrobl	skin:	n/a	chr4:78288200-78288218 chr4:78288203-78288216 chr4:78288202-78288223
50	CTCF	chr4:78283629-78283663	GM13976	blood:	n/a	n/a

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

Variant related genes	Relation type
ENSG00000248831	TF binding region

Extended variants
information (count: 625 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:625 , 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	rs564704042	chr4:78275419-78275420	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs371784935	chr4:78275420-78275421	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs6827268	chr4:78275432-78275433	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs111966875	chr4:78275445-78275446	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs28494858	chr4:78275536-78275537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186616403	chr4:78275537-78275538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532445430	chr4:78275541-78275542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115357503	chr4:78275544-78275545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561382958	chr4:78275563-78275564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs386676339	chr4:78275564-78275565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35145916	chr4:78275566-78275567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530465379	chr4:78275601-78275602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs386676340	chr4:78275606-78275607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184612234	chr4:78275607-78275608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188198463	chr4:78275637-78275638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150130276	chr4:78275660-78275661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192760747	chr4:78275667-78275668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367892023	chr4:78275674-78275675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138676052	chr4:78275681-78275682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116050347	chr4:78275695-78275696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558657976	chr4:78275708-78275709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372715815	chr4:78275805-78275806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141634688	chr4:78275862-78275863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185266877	chr4:78275945-78275946	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs574353662	chr4:78275989-78275990	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs540162094	chr4:78276029-78276030	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs189093011	chr4:78276041-78276042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181742952	chr4:78276062-78276063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560847935	chr4:78276084-78276085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73827157	chr4:78276087-78276088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113249246	chr4:78276118-78276119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139078825	chr4:78276146-78276147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184714966	chr4:78276171-78276172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568481324	chr4:78276212-78276213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527967278	chr4:78276219-78276220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548142898	chr4:78276221-78276222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529761642	chr4:78276231-78276232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546499509	chr4:78276232-78276233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532736159	chr4:78276236-78276237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111998235	chr4:78276245-78276246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540070323	chr4:78276258-78276259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556481961	chr4:78276265-78276266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113794921	chr4:78276269-78276270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537557192	chr4:78276305-78276306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188029242	chr4:78276315-78276316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574127113	chr4:78276320-78276321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566613733	chr4:78276349-78276350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75567260	chr4:78276350-78276351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553693828	chr4:78276368-78276369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576963308	chr4:78276388-78276389	Weak transcription Enhancers	TF binding region	1 gene(s)	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:36 , 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
36	chr4:78288400-78289400	Enhancers	Primary B cells from peripheral blood	blood

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