Variant report

Variant	esv1845496
Chromosome Location	chr5:147576457-147586789
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	CEBPB	chr5:147585014-147585292	Hela-S3	cervix:	n/a	chr5:147585108-147585119
2	CTCF	chr5:147584774-147584850	GM10266	blood:	n/a	n/a
3	E2F4	chr5:147584584-147585366	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr5:147584974-147585254	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr5:147582104-147582459	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr5:147582138-147582458	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr5:147582130-147582470	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr5:147584789-147585168	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr5:147585000-147585218	MCF10A-Er-Src	breast:	n/a	n/a
10	KAP1	chr5:147576474-147576724	K562	blood:	n/a	n/a
11	MAFF	chr5:147579151-147579449	HepG2	liver:	n/a	chr5:147579292-147579310
12	MAFK	chr5:147579145-147579466	HepG2	liver:	n/a	chr5:147579293-147579307 chr5:147579294-147579310 chr5:147579294-147579305 chr5:147579294-147579309 chr5:147579294-147579305 chr5:147579295-147579306
13	MAFK	chr5:147579133-147579397	HepG2	liver:	n/a	chr5:147579293-147579307 chr5:147579294-147579310 chr5:147579294-147579305 chr5:147579294-147579309 chr5:147579294-147579305 chr5:147579295-147579306
14	MAFK	chr5:147585593-147585905	HepG2	liver:	n/a	chr5:147585738-147585755
15	MAFK	chr5:147583779-147584032	HepG2	liver:	n/a	chr5:147583875-147583890
16	MAFK	chr5:147581165-147581416	HepG2	liver:	n/a	n/a
17	MAFK	chr5:147583741-147584025	HepG2	liver:	n/a	chr5:147583875-147583890
18	MAFK	chr5:147585550-147585725	Hela-S3	cervix:	n/a	n/a
19	MYC	chr5:147585121-147585251	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr5:147576633-147576787	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr5:147580047-147580049	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr5:147585328-147585384	MCF10A-Er-Src	breast:	n/a	n/a
23	PRDM1	chr5:147576651-147576664	Hela-S3	cervix:	n/a	n/a
24	RCOR1	chr5:147585945-147585948	Hela-S3	cervix:	n/a	n/a
25	STAT3	chr5:147585048-147585291	MCF10A-Er-Src	breast:	n/a	chr5:147585111-147585119
26	STAT3	chr5:147579616-147579774	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr5:147585190-147585390	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr5:147584960-147585226	MCF10A-Er-Src	breast:	n/a	chr5:147585020-147585028 chr5:147585111-147585119
29	STAT3	chr5:147582206-147582406	MCF10A-Er-Src	breast:	n/a	n/a
30	TBL1XR1	chr5:147582327-147582332	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:147582460-147582510	SAEC	small airway:	n/a
2	chr5:147582460-147582510	SAEC	small airway:	n/a
3	chr5:147582460-147582510	Jurkat	blood:	n/a
4	chr5:147582460-147582510	AG04450	lung:	fetal
5	chr5:147582460-147582510	H1-hESC	embryonic stem cell:	embryo
6	chr5:147582460-147582510	SK-N-SH	brain:	n/a
7	chr5:147582460-147582510	NB4	blood:	n/a
8	chr5:147582460-147582510	U87	brain:	n/a
9	chr5:147582460-147582510	PANC-1	pancreas:	n/a
10	chr5:147582460-147582510	MCF-7	breast:	n/a
11	chr5:147582460-147582510	HMEC	breast:	n/a
12	chr5:147582460-147582510	HEEpiC	esophagus:	n/a
13	chr5:147582460-147582510	PrEC	prostate:	n/a
14	chr5:147582460-147582510	HRE	kidney:	n/a
15	chr5:147582460-147582510	HRCEpiC	kidney:	n/a
16	chr5:147582460-147582510	Hela-S3	cervix:	n/a
17	chr5:147582460-147582510	HPAEpiC	pulmonary alveolar:	n/a
18	chr5:147582460-147582510	K562	blood:	n/a
19	chr5:147582460-147582510	HAEpiC	amniotic membrane:	n/a
20	chr5:147582460-147582510	CMK	blood:	n/a
21	chr5:147582460-147582510	ovcar-3	ovarian:	n/a
22	chr5:147582460-147582510	SKMC	muscle:	n/a
23	chr5:147582460-147582510	LNCaP	prostate:	n/a
24	chr5:147582460-147582510	HCPEpiC	choroid plexus:	n/a
25	chr5:147582460-147582510	NHBE	bronchial:	n/a
26	chr5:147582460-147582510	RPTEC	kidney:	n/a
27	chr5:147582460-147582510	GM12891	blood:	n/a
28	chr5:147582460-147582510	SK-N-SH_RA	brain:	n/a
29	chr5:147582460-147582510	BJ	skin:	n/a
30	chr5:147582460-147582510	HUVEC	blood vessel:	n/a
31	chr5:147582460-147582510	HepG2	liver:	n/a
32	chr5:147582460-147582510	HCF	heart:	n/a
33	chr5:147582460-147582510	MCF10A-Er-Src	breast:	n/a
34	chr5:147582460-147582510	AG09309	skin:	n/a
35	chr5:147582460-147582510	HNPCEpiC	eye:	n/a
36	chr5:147582460-147582510	HRPEpiC	eye:	n/a
37	chr5:147582460-147582510	PFSK-1	brain:	n/a
38	chr5:147582460-147582510	NH-A	brain:	n/a
39	chr5:147582460-147582510	AG04449	skin:	fetal
40	chr5:147582460-147582510	AoSMC	blood vessel:	n/a
41	chr5:147582460-147582510	HL-60	blood:	n/a
42	chr5:147582460-147582510	GM12892	blood:	n/a
43	chr5:147582460-147582510	HCT-116	colon:	n/a
44	chr5:147582460-147582510	Caco-2	colon:	n/a
45	chr5:147582460-147582510	AG10803	skin:	n/a
46	chr5:147582460-147582510	SK-N-MC	brain:	n/a
47	chr5:147582460-147582510	Hepatocyte	liver:	n/a
48	chr5:147582460-147582510	BE2_C	brain:	n/a
49	chr5:147582460-147582510	IMR90	lung:	fetal
50	chr5:147582460-147582510	HCM	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:147579906..147582066-chr5:147584142..147586764,3	K562	blood:
2	chr5:147579906..147582066-chr5:147584142..147586764,3	K562	blood:
3	chr5:147585588..147588520-chr5:147590065..147592405,2	MCF-7	breast:

Variant related genes	Relation type
SPINK6	TF binding region
SPINK6	CpG island

Extended variants
information (count: 414 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:414 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4705232	chr5:147576457-147576458	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs187989249	chr5:147576469-147576470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532313061	chr5:147576472-147576473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191119180	chr5:147576475-147576476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183796199	chr5:147576492-147576493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4705233	chr5:147576629-147576630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs189242709	chr5:147576675-147576676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4705234	chr5:147576680-147576681	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs373757129	chr5:147576717-147576718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9325088	chr5:147576832-147576833	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs140853107	chr5:147576850-147576851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181991280	chr5:147576856-147576857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1897532	chr5:147576861-147576862	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs185626681	chr5:147576862-147576863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs36023204	chr5:147576921-147576922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190140318	chr5:147576934-147576935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575024681	chr5:147576958-147576959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143087701	chr5:147577020-147577021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147463647	chr5:147577081-147577082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554248796	chr5:147577092-147577093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75352625	chr5:147577119-147577120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181740721	chr5:147577140-147577141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6875394	chr5:147577141-147577142	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs115002203	chr5:147577179-147577180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544418684	chr5:147577181-147577182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562840377	chr5:147577183-147577184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554318208	chr5:147577195-147577196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6875563	chr5:147577226-147577227	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs548590780	chr5:147577254-147577255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560307329	chr5:147577275-147577276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142226568	chr5:147577282-147577283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs151210222	chr5:147577286-147577287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570561860	chr5:147577326-147577327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12519059	chr5:147577337-147577338	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs115262851	chr5:147577341-147577342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556458605	chr5:147577384-147577385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12521387	chr5:147577426-147577427	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs114575517	chr5:147577443-147577444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12519629	chr5:147577448-147577449	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs186348352	chr5:147577449-147577450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190398997	chr5:147577476-147577477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12519106	chr5:147577500-147577501	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs180860744	chr5:147577504-147577505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556062078	chr5:147577520-147577521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4479832	chr5:147577580-147577581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572251690	chr5:147577594-147577595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12516461	chr5:147577603-147577604	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs560352685	chr5:147577655-147577656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13175245	chr5:147577686-147577687	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs563458728	chr5:147577704-147577705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
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
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147572200-147582000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:147573200-147584000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:147575800-147576600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:147576000-147581000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:147576200-147581400	Weak transcription	NHEK	skin
6	chr5:147576600-147582400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:147578800-147579400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr5:147578800-147579400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:147578800-147579600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:147578800-147579800	Enhancers	Fetal Intestine Large	intestine
11	chr5:147579000-147579400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr5:147579000-147579600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:147579200-147579400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:147579200-147579600	Enhancers	H9 Cell Line	embryonic stem cell
15	chr5:147579200-147579800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:147579600-147583800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:147579800-147584800	Weak transcription	Fetal Intestine Large	intestine
18	chr5:147580000-147580600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr5:147580400-147580800	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr5:147580600-147580800	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr5:147580800-147581000	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr5:147580800-147581200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr5:147580800-147581200	Active TSS	Primary hematopoietic stem cells	blood
24	chr5:147580800-147581400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr5:147581000-147581400	Active TSS	Primary monocytes fromperipheralblood	blood
26	chr5:147581000-147581600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:147581200-147581600	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr5:147581400-147581600	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr5:147581400-147581800	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr5:147581400-147582400	Enhancers	NHEK	skin
31	chr5:147581600-147582200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:147581600-147582800	Enhancers	HMEC	breast
33	chr5:147581600-147584800	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr5:147581800-147584600	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr5:147582000-147582600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr5:147582200-147583400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:147582400-147582600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr5:147582400-147582800	Enhancers	Placenta Amnion	Placenta Amnion
39	chr5:147582400-147582800	Flanking Active TSS	NHEK	skin
40	chr5:147582600-147583600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:147582600-147584800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:147582800-147583000	Enhancers	NHEK	skin
43	chr5:147582800-147585000	Weak transcription	HMEC	breast
44	chr5:147583000-147584000	Weak transcription	NHEK	skin
45	chr5:147583400-147583800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:147583600-147584200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:147583800-147584000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr5:147583800-147584000	Enhancers	Stomach Mucosa	stomach
49	chr5:147583800-147584600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr5:147584000-147584200	Enhancers	NHEK	skin

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