Variant report

Variant	esv1811399
Chromosome Location	chr5:150952122-150954941
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	CTCF	chr5:150952120-150952270	NHEK	skin:	n/a	n/a
2	E2F4	chr5:150954107-150954492	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr5:150951751-150952629	MCF10A-Er-Src	breast:	n/a	chr5:150952301-150952315
4	FOS	chr5:150951918-150952670	MCF10A-Er-Src	breast:	n/a	chr5:150952301-150952315
5	FOS	chr5:150952008-150952541	MCF10A-Er-Src	breast:	n/a	chr5:150952301-150952315
6	FOS	chr5:150954000-150954513	MCF10A-Er-Src	breast:	n/a	chr5:150954343-150954350 chr5:150954341-150954350
7	FOS	chr5:150952359-150952597	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr5:150953998-150954514	MCF10A-Er-Src	breast:	n/a	chr5:150954343-150954350 chr5:150954341-150954350
9	FOS	chr5:150954124-150954506	MCF10A-Er-Src	breast:	n/a	chr5:150954343-150954350 chr5:150954341-150954350
10	FOS	chr5:150954136-150954492	MCF10A-Er-Src	breast:	n/a	chr5:150954343-150954350 chr5:150954341-150954350
11	MYC	chr5:150952079-150952732	MCF10A-Er-Src	breast:	n/a	n/a
12	MYC	chr5:150952052-150952673	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr5:150953389-150953871	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr5:150952149-150952485	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr5:150954117-150954193	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr5:150952276-150952525	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr5:150954081-150954314	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr5:150952184-150952566	ECC-1	luminal epithelium:	n/a	n/a
19	RCOR1	chr5:150952703-150952839	K562	blood:	n/a	n/a
20	REST	chr5:150952202-150952595	MCF-7	breast:	n/a	n/a
21	RFX5	chr5:150954424-150954433	K562	blood:	n/a	n/a
22	STAT3	chr5:150951919-150952825	MCF10A-Er-Src	breast:	n/a	chr5:150952428-150952437 chr5:150952422-150952442 chr5:150952427-150952436 chr5:150952426-150952437 chr5:150952428-150952436
23	STAT3	chr5:150954042-150954484	MCF10A-Er-Src	breast:	n/a	chr5:150954342-150954351 chr5:150954316-150954330 chr5:150954317-150954328
24	STAT3	chr5:150951520-150952729	MCF10A-Er-Src	breast:	n/a	chr5:150952428-150952437 chr5:150952422-150952442 chr5:150952427-150952436 chr5:150952426-150952437 chr5:150952428-150952436
25	STAT3	chr5:150951764-150952660	MCF10A-Er-Src	breast:	n/a	chr5:150952428-150952437 chr5:150952422-150952442 chr5:150952427-150952436 chr5:150952426-150952437 chr5:150952428-150952436
26	STAT3	chr5:150953889-150954595	MCF10A-Er-Src	breast:	n/a	chr5:150954580-150954588 chr5:150954342-150954351 chr5:150954316-150954330 chr5:150954317-150954328
27	STAT3	chr5:150951821-150952847	MCF10A-Er-Src	breast:	n/a	chr5:150952428-150952437 chr5:150952422-150952442 chr5:150952427-150952436 chr5:150952426-150952437 chr5:150952428-150952436
28	STAT3	chr5:150953993-150954502	MCF10A-Er-Src	breast:	n/a	chr5:150954342-150954351 chr5:150954316-150954330 chr5:150954317-150954328
29	STAT3	chr5:150953775-150954724	MCF10A-Er-Src	breast:	n/a	chr5:150954580-150954588 chr5:150954342-150954351 chr5:150954316-150954330 chr5:150954317-150954328
30	ZNF143	chr5:150952623-150952793	K562	blood:	n/a	n/a
31	ZNF143	chr5:150952632-150952840	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:150951137..150953808-chr5:151149761..151151549,2	K562	blood:
2	chr5:150948647..150952629-chr5:150970748..150974404,4	MCF-7	breast:
3	chr5:150952384..150954279-chr5:150993014..150994959,2	MCF-7	breast:
4	chr5:150949470..150952211-chr5:150958873..150961683,3	MCF-7	breast:
5	chr5:150949333..150952291-chr5:151000084..151002404,2	MCF-7	breast:
6	chr5:150947375..150949317-chr5:150951116..150952783,2	K562	blood:
7	chr5:150951358..150953690-chr5:150997302..150999283,2	MCF-7	breast:

Variant related genes	Relation type
FAT2	TF binding region
ENSG00000145907	chromatin interactions
ENSG00000086570	chromatin interactions

Extended variants
information (count: 119 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7719117	chr5:150952122-150952123	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566518269	chr5:150952129-150952130	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs7737011	chr5:150952159-150952160	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs558403651	chr5:150952187-150952188	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs376966631	chr5:150952198-150952199	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs7737419	chr5:150952212-150952213	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs537512394	chr5:150952213-150952214	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs111693403	chr5:150952217-150952218	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs533893036	chr5:150952237-150952238	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs574250852	chr5:150952262-150952263	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs561305713	chr5:150952321-150952322	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs111790932	chr5:150952331-150952332	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs535403139	chr5:150952354-150952355	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs138007061	chr5:150952442-150952443	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs186800306	chr5:150952526-150952527	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs540609255	chr5:150952545-150952546	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs564551060	chr5:150952579-150952580	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs143566050	chr5:150952604-150952605	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs577289164	chr5:150952611-150952612	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs116682702	chr5:150952626-150952627	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs78135900	chr5:150952656-150952657	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs530313468	chr5:150952687-150952688	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs191272704	chr5:150952708-150952709	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs114494715	chr5:150952719-150952720	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs115420068	chr5:150952720-150952721	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs138830918	chr5:150952789-150952790	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs10079712	chr5:150952794-150952795	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs570302699	chr5:150952818-150952819	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs10072841	chr5:150952884-150952885	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs10064935	chr5:150952887-150952888	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs567964001	chr5:150952981-150952982	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs142863328	chr5:150952987-150952988	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs553687872	chr5:150953034-150953035	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs144628269	chr5:150953075-150953076	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs370796764	chr5:150953108-150953109	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs182057216	chr5:150953157-150953158	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs148069681	chr5:150953164-150953165	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs141403922	chr5:150953170-150953171	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs10074454	chr5:150953177-150953178	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs139612583	chr5:150953180-150953181	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs144306722	chr5:150953195-150953196	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs548003544	chr5:150953214-150953215	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs58539585	chr5:150953229-150953230	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs199603743	chr5:150953231-150953232	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs398093815	chr5:150953232-150953233	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs187800867	chr5:150953235-150953236	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs545895696	chr5:150953250-150953251	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs527987669	chr5:150953300-150953301	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs552552046	chr5:150953304-150953305	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs146108702	chr5:150953353-150953354	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
Chronic lymphocytic leukemia	21546498	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
Crohn''s disease	20106866	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:150948400-150953600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr5:150948400-150953600	Enhancers	Fetal Thymus	thymus
3	chr5:150948600-150952600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:150951200-150952200	Enhancers	HMEC	breast
5	chr5:150951200-150953600	Weak transcription	Esophagus	oesophagus
6	chr5:150951200-150960400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:150951400-150953400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:150951400-150959600	Weak transcription	Placenta	Placenta
9	chr5:150951600-150955800	Weak transcription	Primary B cells from cord blood	blood
10	chr5:150951600-150956400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr5:150951600-150960400	Genic enhancers	NHEK	skin
12	chr5:150952000-150955800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:150952200-150952400	Flanking Active TSS	HMEC	breast
14	chr5:150952400-150953600	Enhancers	HMEC	breast
15	chr5:150952600-150957000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:150953400-150956000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:150953600-150954000	Enhancers	Esophagus	oesophagus
18	chr5:150953600-150955400	Genic enhancers	HMEC	breast
19	chr5:150953600-150955600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr5:150953600-150956800	Weak transcription	Fetal Thymus	thymus
21	chr5:150954000-150959600	Weak transcription	Esophagus	oesophagus

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