Variant report

Variant	esv2496620
Chromosome Location	chr5:37293188-37294935
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	chr5:37293342-37293474	A549	lung:	n/a	n/a
2	POLR2A	chr5:37293546-37293757	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr5:37294744-37295205	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr5:37294751-37294845	MCF-7	breast:	n/a	n/a
5	POLR2A	chr5:37293374-37293761	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37247385..37249387-chr5:37291319..37293555,2	MCF-7	breast:

Variant related genes	Relation type
NUP155	TF binding region
ENSG00000197603	chromatin interactions

Extended variants
information (count: 58 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117687802	chr5:37293190-37293191	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs375630024	chr5:37293191-37293192	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs2272602	chr5:37293215-37293216	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs557097658	chr5:37293248-37293249	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs113006511	chr5:37293351-37293352	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs536468253	chr5:37293352-37293353	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs554722378	chr5:37293354-37293355	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs553513831	chr5:37293374-37293375	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs572933977	chr5:37293388-37293389	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs573520565	chr5:37293467-37293468	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs77512916	chr5:37293495-37293496	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs534132488	chr5:37293539-37293540	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs185966666	chr5:37293543-37293544	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs562677097	chr5:37293592-37293593	Strong transcription Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs190725320	chr5:37293605-37293606	Strong transcription Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs576826988	chr5:37293611-37293612	Strong transcription Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs183014790	chr5:37293666-37293667	Strong transcription Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs187749304	chr5:37293768-37293769	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs574562980	chr5:37293823-37293824	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs541934577	chr5:37293824-37293825	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs531330606	chr5:37293827-37293828	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs560771460	chr5:37293828-37293829	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs544727556	chr5:37293829-37293830	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs71604858	chr5:37293963-37293964	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs192508480	chr5:37293964-37293965	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs552881382	chr5:37294026-37294027	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs564901425	chr5:37294095-37294096	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs70976294	chr5:37294130-37294131	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs371811658	chr5:37294131-37294132	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs369011707	chr5:37294157-37294158	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs564723809	chr5:37294181-37294182	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs532155528	chr5:37294182-37294183	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs372422618	chr5:37294318-37294319	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs550562003	chr5:37294335-37294336	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs77392565	chr5:37294357-37294358	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs527342686	chr5:37294361-37294362	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs182750726	chr5:37294370-37294371	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs547964615	chr5:37294371-37294372	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs217816	chr5:37294396-37294397	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs373400995	chr5:37294409-37294410	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs375709958	chr5:37294419-37294420	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs1045908	chr5:37294473-37294474	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs144851916	chr5:37294476-37294477	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs376953622	chr5:37294481-37294482	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs148603108	chr5:37294496-37294497	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs200055806	chr5:37294508-37294509	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs36111862	chr5:37294545-37294546	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs554161177	chr5:37294576-37294577	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs558820099	chr5:37294589-37294590	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs576691385	chr5:37294693-37294694	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Autism	22549408	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:163 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37285400-37297000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:37285600-37298000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr5:37287000-37296800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr5:37287000-37298800	Weak transcription	Fetal Brain Male	brain
5	chr5:37287200-37296800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:37287200-37297400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr5:37287400-37296400	Weak transcription	Brain Germinal Matrix	brain
8	chr5:37287800-37297600	Weak transcription	Aorta	Aorta
9	chr5:37287800-37304600	Weak transcription	Fetal Heart	heart
10	chr5:37288000-37298800	Weak transcription	Brain Angular Gyrus	brain
11	chr5:37288200-37295400	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:37288200-37320000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:37288400-37294800	Strong transcription	Dnd41	blood
14	chr5:37288800-37297000	Weak transcription	Lung	lung
15	chr5:37288800-37301200	Weak transcription	Colonic Mucosa	Colon
16	chr5:37289000-37293200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:37289000-37295000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:37289000-37300400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:37289000-37369200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:37289200-37293200	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr5:37289200-37293800	Strong transcription	A549	lung
22	chr5:37289200-37293800	Strong transcription	K562	blood
23	chr5:37289200-37294600	Strong transcription	HSMM	muscle
24	chr5:37289200-37294800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr5:37289200-37295200	Strong transcription	Fetal Thymus	thymus
26	chr5:37289200-37295400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:37289200-37297400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr5:37289200-37297400	Weak transcription	NHEK	skin
29	chr5:37289200-37297600	Weak transcription	Right Ventricle	heart
30	chr5:37289200-37297600	Weak transcription	Small Intestine	intestine
31	chr5:37289200-37298400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr5:37289400-37293200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:37289400-37293200	Strong transcription	HMEC	breast
34	chr5:37289400-37294600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:37289400-37295000	Strong transcription	Hela-S3	cervix
36	chr5:37289400-37295200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr5:37289400-37295200	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr5:37289400-37295200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr5:37289400-37295200	Strong transcription	Liver	Liver
40	chr5:37289400-37295200	Strong transcription	Placenta	Placenta
41	chr5:37289400-37295200	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr5:37289400-37299400	Weak transcription	Spleen	Spleen
43	chr5:37289400-37300600	Weak transcription	Brain Anterior Caudate	brain
44	chr5:37289400-37310600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr5:37289600-37293400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr5:37289600-37293600	Strong transcription	Primary B cells from cord blood	blood
47	chr5:37289600-37293600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr5:37289600-37293600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:37289600-37293600	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr5:37289600-37294800	Strong transcription	HUES48 Cell Line	embryonic stem cell

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