Variant report

Variant	esv3440684
Chromosome Location	chr5:167217724-167219572
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565902081	chr5:167217725-167217726	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs376148021	chr5:167217726-167217727	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs534891738	chr5:167217780-167217781	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs367546701	chr5:167217867-167217868	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs185590257	chr5:167217919-167217920	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs568352536	chr5:167217998-167217999	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs190711903	chr5:167218099-167218100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537498465	chr5:167218151-167218152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370207563	chr5:167218192-167218193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs61690402	chr5:167218206-167218207	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs544906227	chr5:167218216-167218217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182661883	chr5:167218243-167218244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4270713	chr5:167218245-167218246	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs573135698	chr5:167218338-167218339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187661023	chr5:167218441-167218442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577750745	chr5:167218446-167218447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545310651	chr5:167218452-167218453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs62382821	chr5:167218463-167218464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557322784	chr5:167218466-167218467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372716347	chr5:167218478-167218479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs62382822	chr5:167218480-167218481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs62382823	chr5:167218483-167218484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368153586	chr5:167218484-167218485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575634625	chr5:167218501-167218502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183402042	chr5:167218518-167218519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112580995	chr5:167218520-167218521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs199874486	chr5:167218533-167218534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542110491	chr5:167218586-167218587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113716874	chr5:167218596-167218597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575853234	chr5:167218608-167218609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377722407	chr5:167218634-167218635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187486746	chr5:167218733-167218734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141116820	chr5:167218734-167218735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532215553	chr5:167218738-167218739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77436582	chr5:167218799-167218800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192333472	chr5:167218802-167218803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184076763	chr5:167218832-167218833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542147861	chr5:167218849-167218850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548183090	chr5:167218888-167218889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144732829	chr5:167218901-167218902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376473685	chr5:167218905-167218906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138686546	chr5:167218928-167218929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368483155	chr5:167218960-167218961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570541020	chr5:167218964-167218965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539531255	chr5:167218990-167218991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141607810	chr5:167219004-167219005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566722752	chr5:167219035-167219036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77152600	chr5:167219038-167219039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542425448	chr5:167219131-167219132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555694540	chr5:167219248-167219249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Breast cancer	17603634	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
severe myoclonic epilepsy of infancy	18294202	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167203600-167218800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:167210800-167225000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:167211200-167219200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:167212600-167219000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr5:167212800-167218800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr5:167214600-167219800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr5:167215200-167219000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:167216800-167219200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:167217000-167218000	Active TSS	Aorta	Aorta
10	chr5:167217200-167218000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:167217200-167218000	Flanking Active TSS	Osteobl	bone
12	chr5:167217400-167217800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:167217400-167217800	Enhancers	Brain Substantia Nigra	brain
14	chr5:167217600-167217800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:167217600-167217800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr5:167217600-167218000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:167217600-167218000	Enhancers	Stomach Smooth Muscle	stomach
18	chr5:167217600-167218000	Enhancers	HSMM	muscle
19	chr5:167217600-167218000	Enhancers	NH-A	brain
20	chr5:167217600-167218200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr5:167217600-167221200	Weak transcription	Brain Anterior Caudate	brain
22	chr5:167217800-167218600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:167217800-167218800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:167217800-167218800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr5:167217800-167219000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:167218000-167218200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:167218000-167219000	Enhancers	Osteobl	bone
28	chr5:167218000-167219200	Weak transcription	NH-A	brain
29	chr5:167218000-167220200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:167218000-167229600	Weak transcription	HSMM	muscle
31	chr5:167218200-167221400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr5:167218200-167225000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:167218600-167220200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr5:167218600-167220800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:167218800-167219000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr5:167218800-167219400	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr5:167218800-167219600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr5:167218800-167220200	Enhancers	H9 Cell Line	embryonic stem cell
39	chr5:167218800-167220600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:167218800-167221800	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr5:167219000-167219400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr5:167219000-167219800	Enhancers	H1 Cell Line	embryonic stem cell
43	chr5:167219000-167220000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr5:167219000-167220200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr5:167219000-167220200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr5:167219000-167220400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr5:167219000-167220400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr5:167219000-167220400	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr5:167219000-167220400	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr5:167219000-167223200	Weak transcription	Osteobl	bone

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