Variant report

Variant	esv2756652
Chromosome Location	chr5:14745268-14750481
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	chr5:14749898-14750186	A549	lung:	n/a	chr5:14750030-14750043 chr5:14750030-14750041
2	CEBPB	chr5:14749917-14750117	K562	blood:	n/a	chr5:14750030-14750043 chr5:14750030-14750041
3	CTCF	chr5:14747477-14747520	GM13977	blood:	n/a	n/a
4	CTCF	chr5:14750016-14750051	GM13976	blood:	n/a	n/a
5	ELF1	chr5:14745882-14746249	GM12878	blood:	n/a	n/a
6	EP300	chr5:14749919-14750382	SK-N-SH_RA	brain:	n/a	n/a
7	EP300	chr5:14749890-14750411	SK-N-SH_RA	brain:	n/a	n/a
8	EP300	chr5:14749612-14749895	SK-N-SH_RA	brain:	n/a	n/a
9	GATA3	chr5:14749886-14750387	SK-N-SH	brain:	n/a	n/a
10	HMGN3	chr5:14748328-14748646	K562	blood:	n/a	n/a
11	MAFK	chr5:14747168-14747172	Hela-S3	cervix:	n/a	n/a
12	MYC	chr5:14748752-14748909	MCF-7	breast:	n/a	n/a
13	PBX3	chr5:14749968-14750466	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr5:14745206-14746133	K562	blood:	n/a	n/a
15	POLR2A	chr5:14748064-14748170	GM12878	blood:	n/a	n/a
16	POLR2A	chr5:14749256-14749456	K562	blood:	n/a	n/a
17	POLR2A	chr5:14746014-14746262	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr5:14746943-14747394	K562	blood:	n/a	n/a
19	POLR2A	chr5:14750060-14750260	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14743462..14745557-chr5:14747499..14750279,2	K562	blood:

Variant related genes	Relation type
ANKH	TF binding region
ENSG00000154122	chromatin interactions

Extended variants
information (count: 234 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:234 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149391	chr5:14745268-14745269	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs33954395	chr5:14745335-14745336	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs397806617	chr5:14745342-14745343	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs564283576	chr5:14745348-14745349	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs153926	chr5:14745357-14745358	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs550037983	chr5:14745364-14745365	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs569202972	chr5:14745480-14745481	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs77566494	chr5:14745481-14745482	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs4604194	chr5:14745489-14745490	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs113867789	chr5:14745498-14745499	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs697566	chr5:14745504-14745505	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs386685723	chr5:14745544-14745545	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs891051	chr5:14745546-14745547	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs696035	chr5:14745553-14745554	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs13182007	chr5:14745575-14745576	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs183707214	chr5:14745584-14745585	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188732498	chr5:14745610-14745611	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553772616	chr5:14745637-14745638	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572198483	chr5:14745638-14745639	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192686642	chr5:14745656-14745657	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182125899	chr5:14745695-14745696	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576182012	chr5:14745702-14745703	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543206802	chr5:14745706-14745707	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554658522	chr5:14745768-14745769	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77233121	chr5:14745785-14745786	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545003276	chr5:14745787-14745788	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565136894	chr5:14745812-14745813	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs35971379	chr5:14745814-14745815	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs560094995	chr5:14745834-14745835	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs527817930	chr5:14745851-14745852	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs552632338	chr5:14745852-14745853	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs571005373	chr5:14745912-14745913	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs376131909	chr5:14745958-14745959	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs538439831	chr5:14745964-14745965	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs140045509	chr5:14745965-14745966	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs372274809	chr5:14745974-14745975	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs143724823	chr5:14746008-14746009	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs147231935	chr5:14746012-14746013	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs111688928	chr5:14746024-14746025	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs536131505	chr5:14746045-14746046	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs139013878	chr5:14746048-14746049	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs200725355	chr5:14746050-14746051	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs199806240	chr5:14746057-14746058	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs372168976	chr5:14746095-14746096	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs374234048	chr5:14746097-14746098	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs374870790	chr5:14746114-14746115	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs539587910	chr5:14746116-14746117	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs557837957	chr5:14746142-14746143	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs373668952	chr5:14746149-14746150	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs576015590	chr5:14746152-14746153	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	17643093	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	18940311	CNVD
Central neurocytomas	17123091	CNVD
Mental retardation	17847001	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	19546859	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21611746	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:224 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14725400-14758600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr5:14725800-14745400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr5:14727000-14745600	Weak transcription	Placenta	Placenta
4	chr5:14727200-14748000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:14727200-14757000	Weak transcription	NHLF	lung
6	chr5:14728800-14745600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr5:14729200-14791000	Weak transcription	Small Intestine	intestine
8	chr5:14729600-14752600	Strong transcription	Fetal Intestine Large	intestine
9	chr5:14729800-14749400	Strong transcription	Fetal Intestine Small	intestine
10	chr5:14730000-14758400	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr5:14733400-14750600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr5:14733400-14753000	Weak transcription	Fetal Brain Male	brain
13	chr5:14736400-14746200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr5:14736600-14752200	Strong transcription	Stomach Smooth Muscle	stomach
15	chr5:14736600-14760000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr5:14736800-14752800	Weak transcription	A549	lung
17	chr5:14736800-14753800	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr5:14736800-14757400	Strong transcription	Duodenum Mucosa	Duodenum
19	chr5:14737000-14754200	Strong transcription	Liver	Liver
20	chr5:14737800-14759200	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr5:14737800-14759400	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr5:14738200-14745400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr5:14738200-14746200	Weak transcription	Aorta	Aorta
24	chr5:14738200-14749400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr5:14739600-14749200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:14739600-14753800	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr5:14739800-14751200	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr5:14740200-14746200	Strong transcription	Esophagus	oesophagus
29	chr5:14740200-14746800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr5:14740800-14746000	Enhancers	Fetal Thymus	thymus
31	chr5:14740800-14748800	Weak transcription	NHEK	skin
32	chr5:14740800-14751400	Strong transcription	Adipose Nuclei	Adipose
33	chr5:14740800-14755200	Weak transcription	NHDF-Ad	bronchial
34	chr5:14741000-14749400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr5:14741000-14752000	Weak transcription	Fetal Lung	lung
36	chr5:14741600-14748200	Weak transcription	Stomach Mucosa	stomach
37	chr5:14741600-14753800	Weak transcription	Colon Smooth Muscle	Colon
38	chr5:14741600-14767800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr5:14741800-14750400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:14742000-14748400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:14742000-14749800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:14742000-14751600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
43	chr5:14742200-14745400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr5:14742400-14748000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:14742400-14748800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:14742400-14752600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr5:14742800-14756600	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr5:14742800-14758400	Strong transcription	Primary T cells from cord blood	blood
49	chr5:14743000-14747600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr5:14743000-14756800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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