Variant report

Variant	esv3414087
Chromosome Location	chr5:37370081-37370646
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:37349723..37351295-chr5:37369578..37371440,2	K562	blood:
2	chr5:37369760..37372730-chr5:37375256..37380889,7	MCF-7	breast:
3	chr5:37370138..37373249-chr5:37374935..37377740,7	K562	blood:
4	chr5:37370037..37373489-chr5:37377973..37381470,5	K562	blood:
5	chr1:11967776..11968487-chr5:37370635..37371332,2	Hela-S3	cervix:
6	chr5:37369538..37373129-chr5:37377393..37380859,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250455	chromatin interactions
ENSG00000199347	chromatin interactions
ENSG00000082068	chromatin interactions
ENSG00000113569	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574894739	chr5:37370091-37370092	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs533502159	chr5:37370106-37370107	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs12054703	chr5:37370120-37370121	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs148599938	chr5:37370196-37370197	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs217841	chr5:37370235-37370236	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs147316941	chr5:37370254-37370255	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs565105929	chr5:37370319-37370320	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs532319403	chr5:37370337-37370338	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs199803420	chr5:37370343-37370344	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs185332658	chr5:37370354-37370355	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs550011158	chr5:37370371-37370372	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs562732454	chr5:37370436-37370437	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs530159587	chr5:37370484-37370485	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs147431587	chr5:37370486-37370487	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs57574793	chr5:37370489-37370490	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs375022060	chr5:37370491-37370492	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs560144535	chr5:37370506-37370507	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs181486046	chr5:37370509-37370510	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs35097747	chr5:37370595-37370596	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs186483433	chr5:37370607-37370608	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs373013374	chr5:37370622-37370623	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs570730341	chr5:37370625-37370626	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:204 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37340800-37370200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:37358200-37370200	Weak transcription	Esophagus	oesophagus
3	chr5:37358400-37370200	Weak transcription	Left Ventricle	heart
4	chr5:37364600-37370400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:37368200-37370200	Enhancers	Primary T cells fromperipheralblood	blood
6	chr5:37368800-37370200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr5:37368800-37370200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr5:37368800-37370200	Flanking Active TSS	Brain Germinal Matrix	brain
9	chr5:37368800-37370200	Enhancers	Spleen	Spleen
10	chr5:37369000-37370200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:37369000-37370200	Enhancers	Primary B cells from peripheral blood	blood
12	chr5:37369000-37370200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr5:37369000-37370200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr5:37369000-37370400	Enhancers	Small Intestine	intestine
15	chr5:37369200-37370200	Weak transcription	Pancreas	Pancrea
16	chr5:37369200-37370200	Flanking Active TSS	NHEK	skin
17	chr5:37369200-37370400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:37369200-37370400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr5:37369200-37370600	Flanking Active TSS	Fetal Brain Female	brain
20	chr5:37369200-37372200	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr5:37369200-37372400	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr5:37369400-37370200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:37369400-37370200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:37369400-37370200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:37369400-37370200	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr5:37369400-37370200	Flanking Active TSS	Fetal Lung	lung
27	chr5:37369400-37370200	Weak transcription	Gastric	stomach
28	chr5:37369400-37370200	Flanking Active TSS	NH-A	brain
29	chr5:37369400-37370400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr5:37369400-37370400	Flanking Active TSS	Colon Smooth Muscle	Colon
31	chr5:37369400-37370400	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr5:37369400-37370400	Flanking Active TSS	Fetal Thymus	thymus
33	chr5:37369400-37370400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr5:37369400-37370400	Flanking Active TSS	HUVEC	blood vessel
35	chr5:37369400-37370600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:37369400-37371000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:37369400-37371000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:37369400-37371000	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr5:37369400-37372200	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr5:37369600-37370200	Flanking Active TSS	Fetal Brain Male	brain
41	chr5:37369600-37370200	Flanking Active TSS	Fetal Kidney	kidney
42	chr5:37369600-37370200	Flanking Active TSS	Rectal Smooth Muscle	rectum
43	chr5:37369600-37370400	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr5:37369600-37370400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr5:37369600-37370600	Flanking Active TSS	Fetal Muscle Leg	muscle
46	chr5:37369600-37370800	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr5:37369600-37370800	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr5:37369600-37370800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr5:37369600-37370800	Flanking Active TSS	Brain Angular Gyrus	brain
50	chr5:37369600-37371000	Flanking Active TSS	Adipose Nuclei	Adipose

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