Variant report

Variant	esv2588767
Chromosome Location	chr5:79556365-79558159
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	ARID3A	chr5:79556358-79556589	HepG2	liver:	n/a	n/a
2	EP300	chr5:79556281-79556671	HepG2	liver:	n/a	n/a
3	HDAC2	chr5:79556311-79556637	HepG2	liver:	n/a	n/a
4	HNF4A	chr5:79556297-79556603	HepG2	liver:	n/a	chr5:79556438-79556453 chr5:79556438-79556453 chr5:79556438-79556453 chr5:79556439-79556451 chr5:79556439-79556452 chr5:79556446-79556454 chr5:79556436-79556454 chr5:79556437-79556452 chr5:79556444-79556452 chr5:79556438-79556452 chr5:79556439-79556451 chr5:79556439-79556451
5	HNF4A	chr5:79556318-79556596	HepG2	liver:	n/a	chr5:79556438-79556453 chr5:79556438-79556453 chr5:79556438-79556453 chr5:79556439-79556451 chr5:79556439-79556452 chr5:79556446-79556454 chr5:79556436-79556454 chr5:79556437-79556452 chr5:79556444-79556452 chr5:79556438-79556452 chr5:79556439-79556451 chr5:79556439-79556451
6	HNF4G	chr5:79556239-79556590	HepG2	liver:	n/a	chr5:79556436-79556451 chr5:79556438-79556453 chr5:79556438-79556453 chr5:79556438-79556453 chr5:79556439-79556451 chr5:79556439-79556452 chr5:79556446-79556454 chr5:79556436-79556454 chr5:79556444-79556452 chr5:79556438-79556452 chr5:79556439-79556451 chr5:79556439-79556451
7	HNF4G	chr5:79556181-79556591	HepG2	liver:	n/a	chr5:79556436-79556451 chr5:79556438-79556453 chr5:79556438-79556453 chr5:79556438-79556453 chr5:79556439-79556451 chr5:79556439-79556452 chr5:79556446-79556454 chr5:79556436-79556454 chr5:79556444-79556452 chr5:79556438-79556452 chr5:79556439-79556451 chr5:79556439-79556451
8	JUND	chr5:79556311-79556626	HepG2	liver:	n/a	chr5:79556606-79556615
9	MYBL2	chr5:79556368-79556801	HepG2	liver:	n/a	n/a
10	POLR2A	chr5:79555311-79557154	K562	blood:	n/a	n/a
11	POLR2A	chr5:79556425-79556584	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr5:79556470-79556513	MCF-7	breast:	n/a	n/a
13	POLR2A	chr5:79555899-79556667	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr5:79555095-79557293	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr5:79556882-79557095	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr5:79556119-79556428	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr5:79557540-79557665	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr5:79556297-79556388	MCF-7	breast:	n/a	n/a
19	POLR2A	chr5:79556609-79556755	MCF-7	breast:	n/a	n/a
20	STAT3	chr5:79556519-79556688	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:79553935..79555947-chr5:79557766..79560598,2	K562	blood:
2	chr5:79553026..79559305-chr5:79561133..79565052,9	K562	blood:
3	chr5:79556019..79559236-chr5:79560726..79564339,3	K562	blood:
4	chr5:79549248..79554047-chr5:79554483..79557884,6	MCF-7	breast:

Variant related genes	Relation type
SERINC5	TF binding region
ENSG00000164300	chromatin interactions

Extended variants
information (count: 62 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369757256	chr5:79556371-79556372	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs546705267	chr5:79556418-79556419	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs578211569	chr5:79556469-79556470	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs566535699	chr5:79556525-79556526	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs374267562	chr5:79556538-79556539	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs150570418	chr5:79556617-79556618	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs192364809	chr5:79556641-79556642	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs538149579	chr5:79556697-79556698	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs554573640	chr5:79556727-79556728	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs574497576	chr5:79556746-79556747	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs533854073	chr5:79556756-79556757	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs62364034	chr5:79556822-79556823	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs113210485	chr5:79556874-79556875	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs56850090	chr5:79556877-79556878	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs558894736	chr5:79556884-79556885	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs575486397	chr5:79556902-79556903	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs549327449	chr5:79556977-79556978	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs184650869	chr5:79556990-79556991	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs190373423	chr5:79557005-79557006	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs76709460	chr5:79557081-79557082	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs559603795	chr5:79557116-79557117	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs530071034	chr5:79557156-79557157	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs540308582	chr5:79557200-79557201	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs560684173	chr5:79557201-79557202	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs528541077	chr5:79557212-79557213	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs532200324	chr5:79557234-79557235	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs552311580	chr5:79557235-79557236	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs551579510	chr5:79557247-79557248	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs556224244	chr5:79557262-79557263	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs568964494	chr5:79557393-79557394	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs374519412	chr5:79557415-79557416	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs560851075	chr5:79557460-79557461	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs550867119	chr5:79557480-79557481	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs182503133	chr5:79557492-79557493	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs375736920	chr5:79557499-79557500	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs370409615	chr5:79557500-79557501	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs374123953	chr5:79557501-79557502	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs368308741	chr5:79557502-79557503	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs184217624	chr5:79557520-79557521	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs76729977	chr5:79557566-79557567	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs531599424	chr5:79557661-79557662	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs376910064	chr5:79557711-79557712	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs112834078	chr5:79557734-79557735	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs533816213	chr5:79557743-79557744	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs553575943	chr5:79557796-79557797	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs142937361	chr5:79557846-79557847	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs566523677	chr5:79557882-79557883	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs370288032	chr5:79557894-79557895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147430722	chr5:79557898-79557899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs36096066	chr5:79557899-79557900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
lymphocytic leukemia	21291569	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	20967226	CNVD
Glioblastoma multiforme	21510904	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79553400-79577800	Weak transcription	Right Atrium	heart
2	chr5:79553600-79561400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:79553600-79568200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:79553800-79556400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:79553800-79556400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:79554200-79564800	Weak transcription	Fetal Stomach	stomach
7	chr5:79554400-79559600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr5:79554400-79561600	Weak transcription	Primary T cells from cord blood	blood
9	chr5:79554400-79563800	Weak transcription	Fetal Thymus	thymus
10	chr5:79554600-79556400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:79554600-79564800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:79555600-79556600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:79556000-79556600	Enhancers	HepG2	liver
14	chr5:79556200-79556600	Enhancers	Liver	Liver
15	chr5:79556200-79556600	Enhancers	Pancreas	Pancrea
16	chr5:79556400-79556600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:79556400-79556600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:79556400-79557000	Enhancers	Sigmoid Colon	Sigmoid Colon

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