Variant report

Variant	esv3327333
Chromosome Location	chr5:37086686-37094069
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37089091..37091586-chr5:37092682..37094967,2	K562	blood:
2	chr5:37089091..37091586-chr5:37092682..37094967,2	K562	blood:

Extended variants
information (count: 242 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:242 , 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	rs184608771	chr5:37086707-37086708	ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150390803	chr5:37086743-37086744	ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189395236	chr5:37086831-37086832	Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573967958	chr5:37086857-37086858	Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182542871	chr5:37086890-37086891	Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550091846	chr5:37086916-37086917	Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373052921	chr5:37086927-37086928	Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562432040	chr5:37086928-37086929	Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185091498	chr5:37086969-37086970	Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547792637	chr5:37086987-37086988	Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78672050	chr5:37087002-37087003	Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs533540360	chr5:37087017-37087018	Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs138155149	chr5:37087083-37087084	Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs113495634	chr5:37087101-37087102	Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs111232245	chr5:37087119-37087120	Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs190427431	chr5:37087188-37087189	Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs538075290	chr5:37087234-37087235	Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76653927	chr5:37087250-37087251	Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574694470	chr5:37087258-37087259	Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181247872	chr5:37087270-37087271	Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543810369	chr5:37087285-37087286	Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370970058	chr5:37087386-37087387	Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535705623	chr5:37087396-37087397	Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554209687	chr5:37087421-37087422	Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs367553270	chr5:37087435-37087436	Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546207055	chr5:37087477-37087478	Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375484738	chr5:37087582-37087583	Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113726955	chr5:37087604-37087605	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563693893	chr5:37087619-37087620	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576785709	chr5:37087621-37087622	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562106273	chr5:37087622-37087623	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189664163	chr5:37087645-37087646	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs367841300	chr5:37087683-37087684	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541371859	chr5:37087687-37087688	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545796948	chr5:37087704-37087705	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559610824	chr5:37087706-37087707	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370074161	chr5:37087715-37087716	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551735475	chr5:37087773-37087774	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570549997	chr5:37087838-37087839	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111447385	chr5:37087848-37087849	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531276881	chr5:37087853-37087854	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115589520	chr5:37087900-37087901	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568113661	chr5:37088000-37088001	Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs367918549	chr5:37088072-37088073	Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535640037	chr5:37088074-37088075	Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs300050	chr5:37088077-37088078	Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs565964048	chr5:37088136-37088137	Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528580498	chr5:37088147-37088148	Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539868823	chr5:37088149-37088150	Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548343089	chr5:37088170-37088171	Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Enhancers	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
Breast cancer	21364760	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	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:235 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36949600-37086800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:37058600-37090000	Weak transcription	Right Ventricle	heart
3	chr5:37061200-37096800	Weak transcription	Psoas Muscle	Psoas
4	chr5:37061200-37103400	Weak transcription	Fetal Kidney	kidney
5	chr5:37064200-37105000	Weak transcription	Fetal Brain Male	brain
6	chr5:37064600-37104000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:37064800-37086800	Weak transcription	Pancreas	Pancrea
8	chr5:37064800-37087000	Weak transcription	Colonic Mucosa	Colon
9	chr5:37064800-37093600	Weak transcription	Brain Germinal Matrix	brain
10	chr5:37065000-37086800	Weak transcription	Lung	lung
11	chr5:37065000-37087000	Weak transcription	Esophagus	oesophagus
12	chr5:37065000-37092600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr5:37065000-37092600	Weak transcription	Small Intestine	intestine
14	chr5:37065000-37097400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr5:37065000-37099400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr5:37065000-37107600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr5:37065200-37090800	Weak transcription	Primary T cells from cord blood	blood
18	chr5:37065200-37103400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr5:37065600-37089400	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr5:37065600-37102400	Weak transcription	Placenta	Placenta
21	chr5:37065800-37087000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr5:37067000-37087000	Weak transcription	Colon Smooth Muscle	Colon
23	chr5:37067000-37111400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr5:37072600-37097400	Weak transcription	Brain Angular Gyrus	brain
25	chr5:37072600-37103600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:37072800-37090200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr5:37072800-37090800	Weak transcription	Brain Anterior Caudate	brain
28	chr5:37073200-37094200	Weak transcription	Brain Substantia Nigra	brain
29	chr5:37073400-37103600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:37078800-37086800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr5:37078800-37086800	Weak transcription	Osteobl	bone
32	chr5:37078800-37097600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr5:37078800-37105000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:37080000-37086800	Weak transcription	Liver	Liver
35	chr5:37080000-37090200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:37080000-37096200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr5:37080000-37098600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:37080000-37103800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr5:37080200-37088400	Weak transcription	Brain Hippocampus Middle	brain
40	chr5:37080200-37112000	Weak transcription	Fetal Heart	heart
41	chr5:37080400-37086800	Weak transcription	Fetal Brain Female	brain
42	chr5:37080400-37088200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr5:37080600-37102200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:37080800-37086800	Weak transcription	Hela-S3	cervix
45	chr5:37080800-37091600	Weak transcription	Fetal Muscle Trunk	muscle
46	chr5:37080800-37097400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:37081000-37086800	Weak transcription	HSMMtube	muscle
48	chr5:37081000-37088200	Weak transcription	Adipose Nuclei	Adipose
49	chr5:37082000-37109000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr5:37082200-37088000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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