Variant report

Variant	esv20248
Chromosome Location	chr4:56266121-56267944
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:56266855-56266873	GM13976	blood:	n/a	n/a
2	GTF2F1	chr4:56267234-56267272	K562	blood:	n/a	n/a
3	MXI1	chr4:56260947-56266145	SK-N-SH	brain:	n/a	n/a
4	NRF1	chr4:56267652-56267803	K562	blood:	n/a	n/a
5	POLR2A	chr4:56267004-56267374	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr4:56267578-56267745	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr4:56266731-56266852	HepG2	liver:	n/a	n/a
8	POLR2A	chr4:56267444-56267718	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr4:56267894-56268099	K562	blood:	n/a	n/a
10	POLR2A	chr4:56265689-56266184	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr4:56267055-56267867	K562	blood:	n/a	n/a
12	POLR2A	chr4:56265998-56266129	HepG2	liver:	n/a	n/a
13	RCOR1	chr4:56267074-56267077	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:56266067..56267699-chr4:56271922..56273908,2	MCF-7	breast:
2	chr4:56211148..56230966-chr4:56256626..56269458,54	MCF-7	breast:
3	chr4:56206647..56208292-chr4:56265434..56267347,2	MCF-7	breast:
4	chr4:56261651..56266514-chr4:56267808..56271520,10	MCF-7	breast:
5	chr4:56261651..56266514-chr4:56267808..56271520,10	MCF-7	breast:
6	chr4:56216631..56219493-chr4:56263836..56266245,2	K562	blood:
7	chr4:56211281..56215987-chr4:56257992..56268538,18	K562	blood:
8	chr4:56247536..56249762-chr4:56263632..56266279,3	K562	blood:
9	chr4:56210761..56214527-chr4:56265668..56271169,8	K562	blood:
10	chr4:56211242..56218739-chr4:56258356..56267013,28	MCF-7	breast:

No data

Variant related genes	Relation type
SRD5A3-AS1	TF binding region
TMEM165	TF binding region
ENSG00000128039	chromatin interactions
ENSG00000249700	chromatin interactions
ENSG00000134851	chromatin interactions
ENSG00000251111	chromatin interactions

Extended variants
information (count: 86 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181470907	chr4:56266168-56266169	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs576499317	chr4:56266171-56266172	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs79539492	chr4:56266194-56266195	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs78739646	chr4:56266195-56266196	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs114205334	chr4:56266212-56266213	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs369748772	chr4:56266235-56266236	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs58176292	chr4:56266298-56266299	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs59648459	chr4:56266334-56266335	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs544597211	chr4:56266351-56266352	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs551900826	chr4:56266352-56266353	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs79554198	chr4:56266361-56266362	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs13144882	chr4:56266377-56266378	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs375108155	chr4:56266386-56266387	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs369859532	chr4:56266388-56266389	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs35673748	chr4:56266389-56266390	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs386400087	chr4:56266391-56266392	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs58851706	chr4:56266394-56266395	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs549762657	chr4:56266410-56266411	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs373799012	chr4:56266411-56266412	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs376316386	chr4:56266416-56266417	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs56821240	chr4:56266417-56266418	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs58525709	chr4:56266418-56266419	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs58449007	chr4:56266421-56266422	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs57166734	chr4:56266425-56266426	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs60466195	chr4:56266427-56266428	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs57272171	chr4:56266431-56266432	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs13139799	chr4:56266432-56266433	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs71194550	chr4:56266445-56266446	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs564487420	chr4:56266456-56266457	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs59972958	chr4:56266486-56266487	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs199827008	chr4:56266491-56266492	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs13139840	chr4:56266499-56266500	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs543414655	chr4:56266502-56266503	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs563102558	chr4:56266503-56266504	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs59259609	chr4:56266504-56266505	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs553431636	chr4:56266527-56266528	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs576294143	chr4:56266528-56266529	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs151178143	chr4:56266544-56266545	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs559426261	chr4:56266554-56266555	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs377431385	chr4:56266618-56266619	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs542876375	chr4:56266625-56266626	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs549125663	chr4:56266654-56266655	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs140091373	chr4:56266666-56266667	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs369942705	chr4:56266673-56266674	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs528333432	chr4:56266702-56266703	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs551595473	chr4:56266705-56266706	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs185120524	chr4:56266719-56266720	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs13113860	chr4:56266724-56266725	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs367928737	chr4:56266794-56266795	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs550172809	chr4:56266803-56266804	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	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
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	CNVD
Multiple myeloma	16616336	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
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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	19115005	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	22183965	CNVD
Autism	22543975	CNVD
Breast cancer	21785460	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:273 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56263800-56266200	Enhancers	Primary T cells fromperipheralblood	blood
2	chr4:56264200-56267400	Enhancers	Small Intestine	intestine
3	chr4:56264200-56269800	Weak transcription	Spleen	Spleen
4	chr4:56264200-56270200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:56264200-56273000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:56264600-56266200	Genic enhancers	Fetal Muscle Leg	muscle
7	chr4:56264600-56266800	Weak transcription	Placenta	Placenta
8	chr4:56264600-56270000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr4:56264800-56266200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr4:56264800-56266400	Enhancers	Ovary	ovary
11	chr4:56264800-56269800	Weak transcription	Fetal Kidney	kidney
12	chr4:56264800-56282200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr4:56264800-56292200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr4:56265000-56266200	Enhancers	Primary T cells from cord blood	blood
15	chr4:56265000-56266200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr4:56265000-56266600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr4:56265000-56267000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr4:56265000-56273200	Weak transcription	Gastric	stomach
19	chr4:56265200-56266400	Genic enhancers	Primary monocytes fromperipheralblood	blood
20	chr4:56265400-56266200	Genic enhancers	Fetal Thymus	thymus
21	chr4:56265400-56273400	Weak transcription	Aorta	Aorta
22	chr4:56265600-56266200	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr4:56265600-56266200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:56265600-56266800	Strong transcription	Fetal Intestine Small	intestine
25	chr4:56265600-56266800	Strong transcription	Fetal Stomach	stomach
26	chr4:56265600-56267000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:56265600-56267000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:56265600-56267200	Weak transcription	HepG2	liver
29	chr4:56265600-56268200	Strong transcription	HSMM	muscle
30	chr4:56265600-56269200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr4:56265600-56269200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr4:56265600-56269200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr4:56265600-56269200	Weak transcription	HSMMtube	muscle
34	chr4:56265600-56269800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr4:56265600-56269800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr4:56265600-56269800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr4:56265600-56269800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr4:56265600-56269800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr4:56265600-56270200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr4:56265600-56270200	Weak transcription	Lung	lung
41	chr4:56265600-56270200	Weak transcription	Thymus	Thymus
42	chr4:56265600-56271400	Weak transcription	Psoas Muscle	Psoas
43	chr4:56265600-56271800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr4:56265600-56272000	Weak transcription	Esophagus	oesophagus
45	chr4:56265600-56272200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr4:56265600-56273200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:56265600-56273800	Weak transcription	Stomach Mucosa	stomach
48	chr4:56265600-56275600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr4:56265600-56281600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr4:56265600-56283800	Weak transcription	Fetal Brain Male	brain

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