Variant report

Variant	esv2458626
Chromosome Location	chr5:95325320-95326864
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	chr5:95323723-95325371	HepG2	liver:	n/a	n/a
2	EP300	chr5:95325042-95325369	HepG2	liver:	n/a	n/a
3	EP300	chr5:95324482-95325365	HepG2	liver:	n/a	n/a
4	FOXA1	chr5:95325003-95325416	HepG2	liver:	n/a	n/a
5	FOXA1	chr5:95324472-95325402	HepG2	liver:	n/a	chr5:95324610-95324622 chr5:95324819-95324831 chr5:95324931-95324943
6	FOXA1	chr5:95325026-95325432	HepG2	liver:	n/a	n/a
7	FOXA1	chr5:95323671-95325502	HepG2	liver:	n/a	chr5:95324610-95324622 chr5:95324819-95324831 chr5:95324931-95324943
8	FOXA2	chr5:95324970-95325333	HepG2	liver:	n/a	n/a
9	FOXA2	chr5:95322332-95325466	HepG2	liver:	n/a	chr5:95324610-95324622 chr5:95324819-95324831 chr5:95324931-95324943
10	GATA3	chr5:95325166-95325682	MCF-7	breast:	n/a	chr5:95325302-95325318
11	GATA3	chr5:95325048-95325769	MCF-7	breast:	n/a	chr5:95325302-95325318
12	GATA3	chr5:95325417-95325638	MCF-7	breast:	n/a	n/a
13	HDAC2	chr5:95325010-95325323	HepG2	liver:	n/a	n/a
14	HNF4A	chr5:95324493-95325338	HepG2	liver:	n/a	chr5:95324795-95324810 chr5:95324567-95324575 chr5:95324794-95324809
15	MYBL2	chr5:95324467-95325333	HepG2	liver:	n/a	n/a
16	NFIC	chr5:95323477-95325436	HepG2	liver:	n/a	n/a
17	NR2F2	chr5:95325255-95325790	MCF-7	breast:	n/a	chr5:95325506-95325521
18	TEAD4	chr5:95324514-95325445	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:95322628..95324639-chr5:95325581..95328091,2	K562	blood:
2	chr5:95322876..95325746-chr5:95335508..95338099,2	K562	blood:

Variant related genes	Relation type
ENSG00000250955	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538851900	chr5:95325342-95325343	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs200346815	chr5:95325388-95325389	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs150619452	chr5:95325398-95325399	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs565860153	chr5:95325445-95325446	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs192702250	chr5:95325463-95325464	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs17383120	chr5:95325513-95325514	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs574398490	chr5:95325536-95325537	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs537006452	chr5:95325680-95325681	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs556450443	chr5:95325698-95325699	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs184523741	chr5:95325730-95325731	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs139969924	chr5:95325782-95325783	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs149649761	chr5:95325796-95325797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529281726	chr5:95325813-95325814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114863629	chr5:95325882-95325883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs72785442	chr5:95325903-95325904	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs181218689	chr5:95325981-95325982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115332030	chr5:95326062-95326063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550113597	chr5:95326063-95326064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563595885	chr5:95326075-95326076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149438993	chr5:95326082-95326083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552484209	chr5:95326089-95326090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147509939	chr5:95326130-95326131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185765389	chr5:95326146-95326147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547847726	chr5:95326152-95326153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114894135	chr5:95326179-95326180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568108916	chr5:95326183-95326184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140130464	chr5:95326218-95326219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539413487	chr5:95326234-95326235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556513703	chr5:95326242-95326243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12522489	chr5:95326336-95326337	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs114087500	chr5:95326372-95326373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145567761	chr5:95326419-95326420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572554773	chr5:95326422-95326423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541572513	chr5:95326430-95326431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570499403	chr5:95326443-95326444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561240881	chr5:95326564-95326565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574848211	chr5:95326583-95326584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs77241913	chr5:95326602-95326603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs17085393	chr5:95326685-95326686	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs532541893	chr5:95326703-95326704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555413099	chr5:95326756-95326757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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	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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	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
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Williams Syndrome	20824207	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95318200-95327600	Enhancers	Fetal Intestine Small	intestine
2	chr5:95319600-95325600	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr5:95320000-95327600	Enhancers	Fetal Intestine Large	intestine
4	chr5:95320600-95330800	Weak transcription	HSMM	muscle
5	chr5:95322800-95330800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:95322800-95331800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:95323200-95333000	Weak transcription	Stomach Mucosa	stomach
8	chr5:95323600-95325600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:95324000-95326800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr5:95324400-95325400	Flanking Active TSS	HepG2	liver
11	chr5:95324600-95325400	Enhancers	Brain Angular Gyrus	brain
12	chr5:95324600-95325400	Enhancers	Fetal Heart	heart
13	chr5:95324800-95325400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:95324800-95325400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr5:95324800-95325600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:95325200-95325400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr5:95325200-95325400	Flanking Active TSS	Liver	Liver
18	chr5:95325200-95325600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:95325200-95325600	Enhancers	Fetal Kidney	kidney
20	chr5:95325200-95331600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:95325400-95325600	Enhancers	Liver	Liver
22	chr5:95325400-95328600	Enhancers	HepG2	liver
23	chr5:95325400-95330200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr5:95325400-95330400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:95325600-95330600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:95325600-95336200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr5:95326800-95327000	Enhancers	Duodenum Mucosa	Duodenum

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