Variant report

Variant	esv3448365
Chromosome Location	chr5:145517798-145518445
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:72)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:72 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:145517540-145518017	HepG2	liver:	n/a	n/a
2	CEBPB	chr5:145517443-145517838	HepG2	liver:	n/a	n/a
3	CEBPB	chr5:145517371-145517914	ECC-1	luminal epithelium:	n/a	n/a
4	CEBPB	chr5:145517459-145517844	HepG2	liver:	n/a	n/a
5	CEBPB	chr5:145517464-145517831	IMR90	lung:	n/a	n/a
6	CEBPB	chr5:145517470-145517804	A549	lung:	n/a	n/a
7	CEBPB	chr5:145517517-145517815	A549	lung:	n/a	n/a
8	CEBPB	chr5:145517429-145517871	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr5:145517474-145517817	ECC-1	luminal epithelium:	n/a	n/a
10	CEBPB	chr5:145517349-145517925	MCF-7	breast:	n/a	n/a
11	CEBPB	chr5:145517324-145517903	A549	lung:	n/a	n/a
12	CEBPB	chr5:145517370-145517858	MCF-7	breast:	n/a	n/a
13	CEBPB	chr5:145517453-145517832	HepG2	liver:	n/a	n/a
14	ELF1	chr5:145517395-145517814	MCF-7	breast:	n/a	n/a
15	ELF1	chr5:145517433-145517835	HepG2	liver:	n/a	n/a
16	EP300	chr5:145517633-145517898	HepG2	liver:	n/a	n/a
17	EP300	chr5:145517486-145517927	HepG2	liver:	n/a	n/a
18	EP300	chr5:145517491-145517968	HepG2	liver:	n/a	n/a
19	FOS	chr5:145517519-145517805	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr5:145517511-145517844	MCF10A-Er-Src	breast:	n/a	n/a
21	FOSL2	chr5:145517399-145517930	HepG2	liver:	n/a	n/a
22	FOXA1	chr5:145517486-145517914	HepG2	liver:	n/a	n/a
23	FOXA1	chr5:145518145-145518633	HepG2	liver:	n/a	n/a
24	FOXA1	chr5:145517409-145518039	HepG2	liver:	n/a	n/a
25	FOXA1	chr5:145518121-145518568	HepG2	liver:	n/a	n/a
26	FOXA1	chr5:145517474-145517936	HepG2	liver:	n/a	n/a
27	FOXA1	chr5:145518145-145518608	HepG2	liver:	n/a	n/a
28	FOXA1	chr5:145517521-145518006	HepG2	liver:	n/a	n/a
29	FOXA1	chr5:145518232-145518647	HepG2	liver:	n/a	n/a
30	FOXA2	chr5:145518293-145518644	A549	lung:	n/a	n/a
31	FOXA2	chr5:145518233-145518552	HepG2	liver:	n/a	n/a
32	FOXA2	chr5:145517470-145518043	A549	lung:	n/a	n/a
33	FOXA2	chr5:145517333-145518282	HepG2	liver:	n/a	n/a
34	FOXA2	chr5:145517565-145517995	A549	lung:	n/a	n/a
35	FOXA2	chr5:145517519-145517943	HepG2	liver:	n/a	n/a
36	HDAC2	chr5:145517520-145517904	HepG2	liver:	n/a	n/a
37	HDAC2	chr5:145517485-145517990	HepG2	liver:	n/a	n/a
38	HNF4A	chr5:145517555-145517872	HepG2	liver:	n/a	n/a
39	JUND	chr5:145517468-145517929	HepG2	liver:	n/a	n/a
40	JUND	chr5:145517480-145517833	HepG2	liver:	n/a	n/a
41	JUND	chr5:145517531-145517817	HepG2	liver:	n/a	n/a
42	MAFF	chr5:145517653-145517865	HepG2	liver:	n/a	n/a
43	MAFK	chr5:145517667-145517920	HepG2	liver:	n/a	n/a
44	MAX	chr5:145517590-145517840	Hela-S3	cervix:	n/a	n/a
45	MAZ	chr5:145517628-145517918	HepG2	liver:	n/a	n/a
46	MBD4	chr5:145517412-145517999	HepG2	liver:	n/a	n/a
47	MBD4	chr5:145517581-145517984	HepG2	liver:	n/a	n/a
48	MXI1	chr5:145517540-145517916	HepG2	liver:	n/a	n/a
49	MXI1	chr5:145517467-145517903	IMR90	lung:	n/a	n/a
50	MYBL2	chr5:145518210-145518680	HepG2	liver:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SH3RF2-5	chr5:145518334-145518571	NONHSAT104396
2	lnc-SH3RF2-4	chr5:145517708-145517944	NONHSAT104395

No data

Variant related genes	Relation type
ENSG00000239317	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555123642	chr5:145517834-145517835	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs182167818	chr5:145517846-145517847	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs143358514	chr5:145517914-145517915	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs76717727	chr5:145517970-145517971	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs13183171	chr5:145517988-145517989	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
6	rs577122325	chr5:145518000-145518001	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs560334324	chr5:145518018-145518019	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs545751904	chr5:145518020-145518021	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs367574303	chr5:145518022-145518023	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs559527695	chr5:145518027-145518028	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs573282947	chr5:145518037-145518038	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs541983519	chr5:145518061-145518062	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs561903382	chr5:145518068-145518069	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs557491084	chr5:145518108-145518109	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs141560638	chr5:145518158-145518159	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs185142927	chr5:145518175-145518176	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs150909769	chr5:145518189-145518190	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs190093194	chr5:145518206-145518207	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs182146314	chr5:145518251-145518252	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs546615758	chr5:145518253-145518254	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs566374279	chr5:145518274-145518275	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs34452275	chr5:145518283-145518284	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs117468120	chr5:145518285-145518286	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs148542511	chr5:145518287-145518288	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs74526061	chr5:145518291-145518292	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs145301823	chr5:145518307-145518308	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs2962503	chr5:145518320-145518321	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs138657473	chr5:145518357-145518358	Strong transcription Weak transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs144839200	chr5:145518358-145518359	Strong transcription Weak transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs71274376	chr5:145518360-145518361	Strong transcription Weak transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs186154848	chr5:145518371-145518372	Strong transcription Weak transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs537200491	chr5:145518445-145518446	Strong transcription Weak transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	16864856	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	20864512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145481200-145560200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:145490800-145535200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:145491000-145518800	Strong transcription	Dnd41	blood
4	chr5:145491000-145542200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:145491000-145551600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr5:145491000-145553800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:145491000-145560200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr5:145491200-145518000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:145491200-145534000	Strong transcription	Osteobl	bone
10	chr5:145491200-145552600	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr5:145491200-145560200	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:145491200-145560200	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:145491200-145560800	Weak transcription	Stomach Mucosa	stomach
14	chr5:145491400-145560000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:145491400-145560400	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:145491600-145557000	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr5:145491600-145559800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr5:145491800-145524800	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr5:145491800-145541400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr5:145491800-145546400	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr5:145492000-145552200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:145492200-145560200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr5:145494000-145520000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr5:145495400-145517800	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr5:145495800-145519400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr5:145495800-145559200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:145496200-145552200	Strong transcription	Primary B cells from peripheral blood	blood
28	chr5:145497600-145517800	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr5:145499000-145557400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:145500200-145541400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:145504400-145525200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:145505400-145531600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:145506200-145523800	Weak transcription	Small Intestine	intestine
34	chr5:145506200-145525600	Weak transcription	Esophagus	oesophagus
35	chr5:145506200-145526800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr5:145506200-145528800	Weak transcription	Fetal Brain Male	brain
37	chr5:145506200-145529400	Weak transcription	Aorta	Aorta
38	chr5:145506200-145529600	Weak transcription	Gastric	stomach
39	chr5:145506200-145531600	Weak transcription	Brain Angular Gyrus	brain
40	chr5:145506200-145542000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:145506400-145522000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr5:145506400-145541800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:145510600-145518600	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr5:145510800-145546800	Strong transcription	Primary T cells from cord blood	blood
45	chr5:145511000-145522000	Strong transcription	Fetal Stomach	stomach
46	chr5:145511200-145524400	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr5:145511200-145534400	Strong transcription	Fetal Muscle Leg	muscle
48	chr5:145511200-145542000	Strong transcription	Fetal Muscle Trunk	muscle
49	chr5:145511200-145542200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr5:145511200-145548000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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