Variant report

Variant	esv1801436
Chromosome Location	chr14:45441932-45476174
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	BRCA1	chr14:45451804-45451915	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr14:45454182-45454395	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr14:45454864-45454996	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr14:45447717-45447785	Kidney_OC	kidney:	n/a	n/a
5	CTCF	chr14:45451116-45451155	MCF-7	breast:	n/a	n/a
6	CTCF	chr14:45451087-45451170	MCF-7	breast:	n/a	n/a
7	CTCF	chr14:45451000-45451150	BE2_C	brain:	n/a	n/a
8	CUX1	chr14:45451590-45451684	GM12878	blood:	n/a	n/a
9	E2F4	chr14:45455204-45455381	MCF10A-Er-Src	breast:	n/a	n/a
10	EBF1	chr14:45459031-45459311	GM12878	blood:	n/a	chr14:45459193-45459204
11	EBF1	chr14:45450547-45450804	GM12878	blood:	n/a	n/a
12	EBF1	chr14:45459173-45459178	GM12878	blood:	n/a	n/a
13	EBF1	chr14:45459040-45459301	GM12878	blood:	n/a	chr14:45459193-45459204
14	EP300	chr14:45465069-45465493	A549	lung:	n/a	chr14:45465173-45465182 chr14:45465174-45465183
15	ESR1	chr14:45448881-45449231	T-47D	breast:	n/a	n/a
16	ESR1	chr14:45448889-45449091	T-47D	breast:	n/a	n/a
17	FOS	chr14:45451857-45452057	MCF10A-Er-Src	breast:	n/a	chr14:45452010-45452017 chr14:45452008-45452017
18	FOS	chr14:45465115-45465195	MCF10A-Er-Src	breast:	n/a	chr14:45465174-45465183 chr14:45465174-45465181 chr14:45465173-45465182 chr14:45465174-45465182
19	FOSL2	chr14:45464909-45465461	MCF-7	breast:	n/a	chr14:45465174-45465183 chr14:45465174-45465181 chr14:45465173-45465182 chr14:45465174-45465182
20	FOSL2	chr14:45464844-45465568	A549	lung:	n/a	chr14:45465174-45465183 chr14:45465174-45465181 chr14:45465173-45465182 chr14:45465174-45465182
21	FOXA1	chr14:45461314-45461652	HepG2	liver:	n/a	chr14:45461477-45461492
22	FOXA1	chr14:45464972-45465532	A549	lung:	n/a	chr14:45465320-45465332
23	FOXA1	chr14:45473208-45473421	T-47D	breast:	n/a	n/a
24	FOXA1	chr14:45464375-45464683	HepG2	liver:	n/a	n/a
25	FOXA1	chr14:45449198-45449450	T-47D	breast:	n/a	n/a
26	FOXA1	chr14:45464317-45464737	HepG2	liver:	n/a	n/a
27	FOXA1	chr14:45449219-45449494	T-47D	breast:	n/a	n/a
28	FOXA1	chr14:45464353-45464692	T-47D	breast:	n/a	n/a
29	FOXA1	chr14:45464430-45464785	HepG2	liver:	n/a	n/a
30	FOXA1	chr14:45473082-45473440	T-47D	breast:	n/a	n/a
31	FOXA2	chr14:45464415-45464716	HepG2	liver:	n/a	n/a
32	FOXA2	chr14:45464150-45464923	HepG2	liver:	n/a	n/a
33	FOXA2	chr14:45464342-45464742	A549	lung:	n/a	n/a
34	FOXA2	chr14:45465110-45465540	A549	lung:	n/a	chr14:45465320-45465332
35	FOXA2	chr14:45461373-45461548	HepG2	liver:	n/a	n/a
36	FOXA2	chr14:45461035-45461571	A549	lung:	n/a	n/a
37	GATA2	chr14:45448990-45449670	SH-SY5Y	brain:	n/a	n/a
38	GATA3	chr14:45464861-45465701	A549	lung:	n/a	chr14:45465231-45465247 chr14:45465233-45465245 chr14:45465233-45465240 chr14:45465175-45465184
39	GATA3	chr14:45449168-45449693	MCF-7	breast:	n/a	n/a
40	GATA3	chr14:45449006-45449608	SH-SY5Y	brain:	n/a	n/a
41	GATA3	chr14:45473089-45473548	T-47D	breast:	n/a	n/a
42	GATA3	chr14:45465009-45465586	MCF-7	breast:	n/a	chr14:45465231-45465247 chr14:45465233-45465245 chr14:45465233-45465240 chr14:45465175-45465184
43	GATA3	chr14:45473182-45473536	T-47D	breast:	n/a	n/a
44	GATA3	chr14:45465036-45465532	A549	lung:	n/a	chr14:45465231-45465247 chr14:45465233-45465245 chr14:45465233-45465240 chr14:45465175-45465184
45	GATA3	chr14:45449200-45449592	T-47D	breast:	n/a	n/a
46	HDAC2	chr14:45464901-45465512	MCF-7	breast:	n/a	chr14:45465355-45465374 chr14:45465323-45465332
47	IRF1	chr14:45445612-45445846	K562	blood:	n/a	n/a
48	IRF1	chr14:45468945-45469037	K562	blood:	n/a	n/a
49	IRF3	chr14:45462774-45462812	GM12878	blood:	n/a	n/a
50	JUN	chr14:45464225-45464278	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:45461379..45464439-chr14:45465878..45468676,3	MCF-7	breast:
2	chr14:45427812..45430166-chr14:45450519..45452752,2	MCF-7	breast:
3	chr14:45442937..45446932-chr14:45447950..45450960,3	MCF-7	breast:
4	chr14:45429455..45434456-chr14:45457577..45465953,9	MCF-7	breast:
5	chr14:45429271..45433674-chr14:45463003..45467131,6	MCF-7	breast:
6	chr14:45431180..45433416-chr14:45447895..45450049,3	MCF-7	breast:
7	chr14:45447939..45449811-chr14:45461591..45463970,2	MCF-7	breast:
8	chr14:45430346..45432834-chr14:45446058..45448249,2	MCF-7	breast:
9	chr14:45447939..45449811-chr14:45461591..45463970,2	MCF-7	breast:
10	chr14:45437222..45438857-chr14:45461418..45463222,2	MCF-7	breast:
11	chr14:45471186..45473239-chr14:45488611..45490620,2	K562	blood:
12	chr14:45461379..45464439-chr14:45465878..45468676,3	MCF-7	breast:
13	chr14:45430922..45432847-chr14:45466321..45468139,2	MCF-7	breast:
14	chr14:45429641..45432850-chr14:45440380..45446083,5	MCF-7	breast:
15	chr14:45442937..45446932-chr14:45447950..45450960,3	MCF-7	breast:

Variant related genes	Relation type
FAM179B	TF binding region
ENSG00000198718	chromatin interactions
ENSG00000179454	chromatin interactions

Extended variants
information (count: 1182 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1182 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28802144	chr14:45441932-45441933	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564217963	chr14:45441950-45441951	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs529626649	chr14:45441962-45441963	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs543746721	chr14:45441977-45441978	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs370052421	chr14:45441982-45441983	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs73348291	chr14:45441987-45441988	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs186665960	chr14:45442002-45442003	Weak transcription ZNF genes & repeats Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs548676975	chr14:45442076-45442077	Weak transcription ZNF genes & repeats Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs374837394	chr14:45442082-45442083	Weak transcription ZNF genes & repeats Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs560600702	chr14:45442105-45442106	Weak transcription ZNF genes & repeats Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs192672712	chr14:45442113-45442114	Weak transcription ZNF genes & repeats Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs185659567	chr14:45442115-45442116	Weak transcription ZNF genes & repeats Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs111887188	chr14:45442240-45442241	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs370924377	chr14:45442241-45442242	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs79691475	chr14:45442242-45442243	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs58271812	chr14:45442243-45442244	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs77347835	chr14:45442268-45442269	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs111985018	chr14:45442329-45442330	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs145607166	chr14:45442428-45442429	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs190617032	chr14:45442444-45442445	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs568286767	chr14:45442466-45442467	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs371334535	chr14:45442487-45442488	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs535680808	chr14:45442488-45442489	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs553436162	chr14:45442559-45442560	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs377496566	chr14:45442568-45442569	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs539061565	chr14:45442578-45442579	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs142468409	chr14:45442597-45442598	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs571713401	chr14:45442634-45442635	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs146579363	chr14:45442639-45442640	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs61998159	chr14:45442737-45442738	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs138687321	chr14:45442741-45442742	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs201237706	chr14:45442752-45442753	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs377324309	chr14:45442782-45442783	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs369093799	chr14:45442793-45442794	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs372973352	chr14:45442795-45442796	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs377582876	chr14:45442797-45442798	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs1115185	chr14:45442799-45442800	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs368278098	chr14:45442801-45442802	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs3036333	chr14:45442807-45442808	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs527737522	chr14:45442815-45442816	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs552398292	chr14:45442819-45442820	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs66488071	chr14:45442821-45442822	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs531617869	chr14:45442826-45442827	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs192978872	chr14:45442842-45442843	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs34924029	chr14:45442851-45442852	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs570257404	chr14:45442897-45442898	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs568450420	chr14:45442962-45442963	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs375972960	chr14:45442963-45442964	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs961194	chr14:45442991-45442992	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs547633028	chr14:45442999-45443000	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:574 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45428800-45443400	Active TSS	GM12878-XiMat	blood
2	chr14:45434600-45465000	Weak transcription	Fetal Thymus	thymus
3	chr14:45436200-45445600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr14:45436200-45486600	Weak transcription	Gastric	stomach
5	chr14:45436800-45461400	Weak transcription	K562	blood
6	chr14:45437000-45444200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr14:45437000-45449000	Weak transcription	Fetal Stomach	stomach
8	chr14:45437000-45451800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr14:45437000-45465000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:45437000-45465800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:45437000-45473200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:45437000-45496000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr14:45437000-45507400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:45437000-45514600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr14:45437200-45449400	Weak transcription	Liver	Liver
16	chr14:45437200-45466000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr14:45437200-45469400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr14:45438000-45442400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr14:45438000-45501800	Weak transcription	Fetal Kidney	kidney
20	chr14:45438200-45444000	Weak transcription	Brain Substantia Nigra	brain
21	chr14:45438200-45448600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr14:45438200-45449000	Weak transcription	Adipose Nuclei	Adipose
23	chr14:45438200-45465400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:45438600-45445200	Weak transcription	Ovary	ovary
25	chr14:45438600-45448400	Weak transcription	Fetal Intestine Large	intestine
26	chr14:45438600-45451800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr14:45438800-45445000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr14:45438800-45447800	Weak transcription	Fetal Intestine Small	intestine
29	chr14:45438800-45449600	Weak transcription	Left Ventricle	heart
30	chr14:45439000-45443200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr14:45439200-45442200	Enhancers	Dnd41	blood
32	chr14:45439200-45448400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr14:45439200-45464400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr14:45439400-45448400	Weak transcription	Psoas Muscle	Psoas
35	chr14:45439400-45449000	Weak transcription	Brain Angular Gyrus	brain
36	chr14:45440000-45465400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr14:45440400-45465800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr14:45441400-45442000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr14:45441400-45442400	Weak transcription	Brain Anterior Caudate	brain
40	chr14:45441400-45448800	Weak transcription	Primary B cells from cord blood	blood
41	chr14:45441400-45449200	Weak transcription	Fetal Lung	lung
42	chr14:45441400-45469400	Weak transcription	Primary T cells from cord blood	blood
43	chr14:45442000-45442200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
44	chr14:45442000-45442200	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr14:45442200-45443400	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr14:45442200-45445400	Weak transcription	Dnd41	blood
47	chr14:45442200-45458000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr14:45442400-45442600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr14:45442400-45442800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr14:45442400-45443400	Enhancers	Brain Anterior Caudate	brain

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