Variant report

Variant	esv3470436
Chromosome Location	chr5:37143745-37144418
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	SETDB1	chr5:37143401-37143847	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37139071..37141046-chr5:37143602..37145586,2	MCF-7	breast:

Variant related genes	Relation type
C5orf42	TF binding region
ENSG00000197603	chromatin interactions

Extended variants
information (count: 30 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577410953	chr5:37143768-37143769	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs565297684	chr5:37143833-37143834	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs144372925	chr5:37143834-37143835	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs368884316	chr5:37143848-37143849	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs111810477	chr5:37143872-37143873	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs562958841	chr5:37143879-37143880	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs530125515	chr5:37143890-37143891	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs548417664	chr5:37143893-37143894	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs184090469	chr5:37143909-37143910	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs560291473	chr5:37143917-37143918	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs528011757	chr5:37143920-37143921	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs545334017	chr5:37143992-37143993	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs9637791	chr5:37144018-37144019	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs10715136	chr5:37144039-37144040	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs552299323	chr5:37144040-37144041	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs34360347	chr5:37144134-37144135	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs571176664	chr5:37144207-37144208	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs368977774	chr5:37144208-37144209	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs538588561	chr5:37144230-37144231	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs550298068	chr5:37144250-37144251	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs568980641	chr5:37144269-37144270	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs145069044	chr5:37144286-37144287	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs554841657	chr5:37144287-37144288	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs10043395	chr5:37144327-37144328	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs187365774	chr5:37144328-37144329	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs10037834	chr5:37144335-37144336	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs192243596	chr5:37144338-37144339	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs551361376	chr5:37144339-37144340	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs369099937	chr5:37144345-37144346	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs184026841	chr5:37144415-37144416	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	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
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	19153074	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Autism	21701786	CNVD
Cervical cancer	16585170	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:160 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37082800-37169200	Weak transcription	Spleen	Spleen
2	chr5:37105800-37156200	Weak transcription	NHLF	lung
3	chr5:37106200-37150200	Weak transcription	NHEK	skin
4	chr5:37108200-37143800	Weak transcription	Gastric	stomach
5	chr5:37112200-37198200	Weak transcription	Small Intestine	intestine
6	chr5:37113600-37222200	Weak transcription	Psoas Muscle	Psoas
7	chr5:37113800-37157000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr5:37114600-37165400	Weak transcription	HMEC	breast
9	chr5:37118600-37153600	Weak transcription	Pancreas	Pancrea
10	chr5:37122000-37156000	Weak transcription	Brain Substantia Nigra	brain
11	chr5:37122800-37150800	Weak transcription	Fetal Heart	heart
12	chr5:37124200-37149400	Weak transcription	NH-A	brain
13	chr5:37133200-37169400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr5:37133600-37144000	Strong transcription	HSMM	muscle
15	chr5:37134200-37171200	Weak transcription	Colonic Mucosa	Colon
16	chr5:37135400-37146200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:37136200-37197200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr5:37136800-37170000	Weak transcription	Esophagus	oesophagus
19	chr5:37137000-37145800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:37137200-37143800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:37137200-37143800	Strong transcription	Fetal Thymus	thymus
22	chr5:37137400-37174000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr5:37137600-37169000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr5:37137800-37143800	Weak transcription	Fetal Intestine Small	intestine
25	chr5:37138000-37150200	Weak transcription	Primary T cells from cord blood	blood
26	chr5:37138000-37156000	Weak transcription	Aorta	Aorta
27	chr5:37138000-37157000	Weak transcription	Colon Smooth Muscle	Colon
28	chr5:37138200-37143800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:37138200-37143800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:37138200-37143800	Weak transcription	Ovary	ovary
31	chr5:37138400-37143800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:37138400-37148400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr5:37138400-37155200	Weak transcription	Brain Angular Gyrus	brain
34	chr5:37138400-37156800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:37138400-37196800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr5:37138600-37150400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr5:37138600-37150600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr5:37138600-37153400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr5:37138600-37179600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr5:37138800-37156800	Weak transcription	HUVEC	blood vessel
41	chr5:37139000-37143800	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr5:37139000-37150200	Weak transcription	Liver	Liver
43	chr5:37139000-37150200	Weak transcription	Brain Anterior Caudate	brain
44	chr5:37139000-37150600	Weak transcription	Primary B cells from cord blood	blood
45	chr5:37139000-37151800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr5:37139000-37152200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr5:37140000-37150200	Weak transcription	Right Ventricle	heart
48	chr5:37140000-37151800	Weak transcription	Thymus	Thymus
49	chr5:37140600-37144000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:37141000-37143800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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