Variant report

Variant	esv3373065
Chromosome Location	chr4:48656895-48659843
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:48658902-48659004	ProgFib	skin:	n/a	n/a
2	POLR2A	chr4:48659138-48659213	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr4:48657502-48657527	MCF10A-Er-Src	breast:	n/a	n/a
4	SPI1	chr4:48658753-48658999	HL-60	blood:	n/a	n/a
5	ZNF274	chr4:48657721-48658243	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:48644058..48646870-chr4:48657277..48658947,3	K562	blood:
2	chr4:48635131..48636662-chr4:48655697..48657913,2	K562	blood:
3	chr4:48652921..48654969-chr4:48656237..48658200,2	K562	blood:
4	chr4:48652508..48655525-chr4:48656294..48658905,3	K562	blood:
5	chr4:48659520..48661722-chr4:48662309..48664640,2	MCF-7	breast:

No data

Variant related genes	Relation type
FRYL	TF binding region
ENSG00000075539	chromatin interactions

Extended variants
information (count: 95 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540696996	chr4:48656948-48656949	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs564961703	chr4:48657011-48657012	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs532322398	chr4:48657024-48657025	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs147518001	chr4:48657064-48657065	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs116648406	chr4:48657112-48657113	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs529891293	chr4:48657141-48657142	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs186949931	chr4:48657147-48657148	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs138475023	chr4:48657166-48657167	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs533671449	chr4:48657197-48657198	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs191021732	chr4:48657198-48657199	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs183291557	chr4:48657206-48657207	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs551113474	chr4:48657215-48657216	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs143568233	chr4:48657254-48657255	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs539225536	chr4:48657341-48657342	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs143922007	chr4:48657353-48657354	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs576008087	chr4:48657419-48657420	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs536904091	chr4:48657421-48657422	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs554679708	chr4:48657433-48657434	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs188270031	chr4:48657456-48657457	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs148944641	chr4:48657496-48657497	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs530118363	chr4:48657503-48657504	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs776581	chr4:48657569-48657570	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs548336877	chr4:48657581-48657582	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs566665998	chr4:48657587-48657588	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs565372927	chr4:48657721-48657722	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs576675434	chr4:48657723-48657724	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs544006309	chr4:48657745-48657746	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs193172200	chr4:48657809-48657810	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs529954149	chr4:48657837-48657838	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs548437092	chr4:48657861-48657862	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs28754497	chr4:48657909-48657910	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs199803635	chr4:48657930-48657931	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs559919612	chr4:48657959-48657960	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs148613056	chr4:48657962-48657963	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs544763503	chr4:48658013-48658014	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs201225254	chr4:48658040-48658041	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs552026124	chr4:48658079-48658080	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs570521296	chr4:48658131-48658132	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs372389390	chr4:48658134-48658135	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs201457285	chr4:48658135-48658136	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs537890468	chr4:48658144-48658145	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs111216415	chr4:48658246-48658247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368180446	chr4:48658325-48658326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375530686	chr4:48658334-48658335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551203894	chr4:48658349-48658350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184464659	chr4:48658357-48658358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552375914	chr4:48658360-48658361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28680969	chr4:48658361-48658362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187690736	chr4:48658385-48658386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374670801	chr4:48658401-48658402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	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
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Cancer	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
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Basal cell lymphoma	21115979	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48621200-48729400	Weak transcription	Thymus	Thymus
2	chr4:48637800-48664200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:48638000-48657200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr4:48638000-48663000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr4:48638000-48664600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr4:48638400-48686200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr4:48638600-48666000	Weak transcription	Primary B cells from cord blood	blood
8	chr4:48645200-48679400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr4:48645400-48663400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:48645400-48664200	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:48645600-48664200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:48648800-48669200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr4:48653000-48666800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr4:48653000-48667600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr4:48653200-48665800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr4:48653400-48669200	Weak transcription	Gastric	stomach
17	chr4:48653800-48664600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr4:48654000-48657600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr4:48654400-48669600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr4:48654600-48657400	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr4:48654800-48657600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr4:48655000-48657600	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr4:48655000-48657600	Enhancers	Dnd41	blood
24	chr4:48655200-48657400	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr4:48655400-48657200	Enhancers	NHDF-Ad	bronchial
26	chr4:48655400-48657400	Enhancers	Colon Smooth Muscle	Colon
27	chr4:48655400-48657600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr4:48655400-48657600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr4:48655400-48657600	Enhancers	HUVEC	blood vessel
30	chr4:48655400-48659200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:48655600-48657000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr4:48655600-48657400	Enhancers	Fetal Lung	lung
33	chr4:48655800-48657200	Enhancers	Fetal Brain Female	brain
34	chr4:48655800-48657400	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr4:48655800-48685600	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr4:48656000-48657200	Enhancers	Fetal Kidney	kidney
37	chr4:48656200-48657000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:48656200-48657000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:48656200-48657000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr4:48656200-48657000	Enhancers	NH-A	brain
41	chr4:48656200-48657000	Enhancers	Osteobl	bone
42	chr4:48656200-48657200	Enhancers	Muscle Satellite Cultured Cells	--
43	chr4:48656200-48657200	Weak transcription	Fetal Brain Male	brain
44	chr4:48656200-48657200	Enhancers	NHLF	lung
45	chr4:48656200-48657400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:48656200-48657400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr4:48656200-48657400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:48656200-48657400	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr4:48656200-48657400	Enhancers	Brain Angular Gyrus	brain
50	chr4:48656200-48657400	Enhancers	Right Ventricle	heart

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