Variant report

Variant	esv3418785
Chromosome Location	chr5:14792202-14794300
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	chr5:14793600-14793750	HepG2	liver:	n/a	chr5:14793602-14793611
2	CTCF	chr5:14793340-14793490	GM12867	blood:	n/a	n/a
3	CTCF	chr5:14793620-14793770	GM12867	blood:	n/a	n/a
4	FOXA1	chr5:14793962-14794352	T-47D	breast:	n/a	n/a
5	FOXA1	chr5:14793901-14794272	T-47D	breast:	n/a	n/a
6	GATA3	chr5:14793886-14794309	T-47D	breast:	n/a	chr5:14794108-14794120
7	GATA3	chr5:14793968-14794416	MCF-7	breast:	n/a	chr5:14794108-14794120
8	GATA3	chr5:14793797-14794471	MCF-7	breast:	n/a	chr5:14794108-14794120
9	GATA3	chr5:14793876-14794365	T-47D	breast:	n/a	chr5:14794108-14794120
10	GATA3	chr5:14793515-14794508	MCF-7	breast:	n/a	chr5:14794108-14794120
11	RCOR1	chr5:14792580-14792588	K562	blood:	n/a	n/a
12	SIN3AK20	chr5:14793723-14794554	MCF-7	breast:	n/a	n/a
13	ZNF217	chr5:14793921-14794332	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14788291..14790064-chr5:14792077..14794888,2	MCF-7	breast:
2	chr5:14762511..14765018-chr5:14793298..14795761,2	K562	blood:

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

Extended variants
information (count: 114 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370036301	chr5:14792205-14792206	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs531133059	chr5:14792221-14792222	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs370071153	chr5:14792288-14792289	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs549353714	chr5:14792342-14792343	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs186467080	chr5:14792429-14792430	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs77603604	chr5:14792437-14792438	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs546591284	chr5:14792439-14792440	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs114976837	chr5:14792442-14792443	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs538895641	chr5:14792471-14792472	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs7725257	chr5:14792484-14792485	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs190319323	chr5:14792510-14792511	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs557296266	chr5:14792537-14792538	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs12153088	chr5:14792539-14792540	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs374756030	chr5:14792582-14792583	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs370610590	chr5:14792603-14792604	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs554496086	chr5:14792633-14792634	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs574050346	chr5:14792634-14792635	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs534806291	chr5:14792648-14792649	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs138300195	chr5:14792668-14792669	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs558417901	chr5:14792680-14792681	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs181578408	chr5:14792730-14792731	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs545044888	chr5:14792739-14792740	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs149220404	chr5:14792782-14792783	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs39916	chr5:14792817-14792818	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs186221278	chr5:14792821-14792822	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs561345670	chr5:14792849-14792850	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs43178	chr5:14792850-14792851	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs572433402	chr5:14792863-14792864	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs546728257	chr5:14792874-14792875	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs376464367	chr5:14792899-14792900	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs35763468	chr5:14792939-14792940	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs39917	chr5:14792946-14792947	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs550628182	chr5:14792958-14792959	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs111908785	chr5:14792973-14792974	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs111854827	chr5:14792979-14792980	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs536177702	chr5:14792981-14792982	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs182509993	chr5:14793020-14793021	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs375831232	chr5:14793034-14793035	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs59546079	chr5:14793098-14793099	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs57868923	chr5:14793100-14793101	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs10068698	chr5:14793112-14793113	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs10044417	chr5:14793116-14793117	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs34755411	chr5:14793117-14793118	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs13160980	chr5:14793118-14793119	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs70964569	chr5:14793129-14793130	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs13178749	chr5:14793130-14793131	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs62355967	chr5:14793132-14793133	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs13160993	chr5:14793134-14793135	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs71307307	chr5:14793142-14793143	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs60884804	chr5:14793143-14793144	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	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
Acute lymphoblastic leukemia	21248843	CNVD
Gastric cancer	17229543	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14753600-14801600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr5:14767400-14809800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr5:14776800-14809400	Weak transcription	HMEC	breast
4	chr5:14777000-14794200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:14777200-14806200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr5:14777200-14810400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr5:14777200-14811400	Weak transcription	Colonic Mucosa	Colon
8	chr5:14778200-14805800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:14778200-14809400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:14778200-14817200	Weak transcription	Fetal Brain Female	brain
11	chr5:14780000-14794600	Weak transcription	Fetal Heart	heart
12	chr5:14781400-14796000	Weak transcription	Hela-S3	cervix
13	chr5:14781600-14794200	Weak transcription	Thymus	Thymus
14	chr5:14782200-14805800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr5:14784600-14793400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr5:14784600-14793400	Weak transcription	Lung	lung
17	chr5:14784600-14793600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr5:14784800-14797400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:14784800-14806600	Weak transcription	Adipose Nuclei	Adipose
20	chr5:14785000-14793400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:14785200-14793400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:14785200-14794000	Weak transcription	Gastric	stomach
23	chr5:14785600-14793400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr5:14785800-14809600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:14787000-14794200	Weak transcription	Brain Anterior Caudate	brain
26	chr5:14788200-14793400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr5:14788200-14793600	Weak transcription	Brain Hippocampus Middle	brain
28	chr5:14788400-14809600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr5:14788600-14793400	Weak transcription	Brain Angular Gyrus	brain
30	chr5:14788600-14793400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr5:14788600-14809600	Weak transcription	Psoas Muscle	Psoas
32	chr5:14788800-14793600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr5:14788800-14802000	Weak transcription	Spleen	Spleen
34	chr5:14788800-14809600	Weak transcription	Liver	Liver
35	chr5:14789000-14793400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr5:14789800-14792800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr5:14790200-14792400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr5:14790200-14792400	Enhancers	Dnd41	blood
39	chr5:14790200-14792600	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr5:14790600-14793600	Weak transcription	HepG2	liver
41	chr5:14790600-14797800	Weak transcription	HSMM	muscle
42	chr5:14790600-14809800	Weak transcription	Stomach Mucosa	stomach
43	chr5:14790800-14792600	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr5:14790800-14794200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr5:14791000-14793200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr5:14791000-14793400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:14791000-14794400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:14791000-14806000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr5:14791000-14809600	Weak transcription	Primary hematopoietic stem cells	blood
50	chr5:14791200-14793400	Weak transcription	Osteobl	bone

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