Variant report

Variant	esv3327480
Chromosome Location	chr5:177782846-177787744
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:177784139..177785777-chr5:177788896..177791858,2	K562	blood:
2	chr5:177786537..177789455-chr5:177802501..177804616,2	K562	blood:
3	chr5:177775759..177777700-chr5:177785151..177787817,3	K562	blood:

Extended variants
information (count: 391 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:391 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75657021	chr5:177782857-177782858	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs372668958	chr5:177782864-177782865	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs531660340	chr5:177782871-177782872	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs138269150	chr5:177782893-177782894	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs74392108	chr5:177782894-177782895	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs62389379	chr5:177782904-177782905	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs3112485	chr5:177782932-177782933	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs567815747	chr5:177782969-177782970	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs3097173	chr5:177783020-177783021	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs553732185	chr5:177783051-177783052	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs147239076	chr5:177783062-177783063	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs187322218	chr5:177783104-177783105	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs565042711	chr5:177783105-177783106	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs111543067	chr5:177783138-177783139	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs11950817	chr5:177783166-177783167	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs563183587	chr5:177783176-177783177	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs190572826	chr5:177783186-177783187	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs548758200	chr5:177783194-177783195	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs560560910	chr5:177783195-177783196	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs78537796	chr5:177783207-177783208	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs571720971	chr5:177783254-177783255	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs552252537	chr5:177783295-177783296	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs570583415	chr5:177783305-177783306	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs142281590	chr5:177783330-177783331	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs115381898	chr5:177783346-177783347	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs35307671	chr5:177783380-177783381	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs34173530	chr5:177783381-177783382	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs369704522	chr5:177783385-177783386	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs386405792	chr5:177783386-177783387	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs75900809	chr5:177783387-177783388	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs151319382	chr5:177783404-177783405	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs568321519	chr5:177783406-177783407	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs139170025	chr5:177783436-177783437	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs373040175	chr5:177783457-177783458	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs61638912	chr5:177783459-177783460	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs558430254	chr5:177783461-177783462	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs575401698	chr5:177783462-177783463	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs535425104	chr5:177783476-177783477	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs140607814	chr5:177783506-177783507	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs73346901	chr5:177783510-177783511	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs77772068	chr5:177783525-177783526	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs5873609	chr5:177783622-177783623	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558594191	chr5:177783652-177783653	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34030056	chr5:177783687-177783688	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs544180692	chr5:177783688-177783689	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562787522	chr5:177783690-177783691	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182905690	chr5:177783691-177783692	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73346902	chr5:177783728-177783729	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs560840710	chr5:177783729-177783730	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574611540	chr5:177783745-177783746	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
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
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	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
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
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177759400-177783400	Weak transcription	Right Atrium	heart
2	chr5:177768200-177783000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr5:177769600-177783200	Weak transcription	Fetal Thymus	thymus
4	chr5:177776000-177783000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:177776000-177783000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:177776200-177783200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:177776200-177783400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:177777800-177783000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr5:177778000-177783000	Weak transcription	Placenta	Placenta
10	chr5:177778400-177783000	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr5:177778400-177783400	Weak transcription	NHDF-Ad	bronchial
12	chr5:177778600-177783000	Weak transcription	Spleen	Spleen
13	chr5:177778800-177783000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:177778800-177783000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:177779200-177783400	Weak transcription	Thymus	Thymus
16	chr5:177779400-177783200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:177780800-177783200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr5:177781000-177783200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr5:177781200-177783000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr5:177781400-177783000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr5:177781600-177783000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:177781800-177783600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr5:177782000-177783000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:177782200-177784200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr5:177782600-177784600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr5:177782800-177783000	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr5:177782800-177783200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr5:177782800-177783400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr5:177782800-177783600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr5:177782800-177783600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:177782800-177783600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:177782800-177784800	Enhancers	Fetal Lung	lung
33	chr5:177783000-177783200	Enhancers	Brain Angular Gyrus	brain
34	chr5:177783000-177783200	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr5:177783000-177783200	Enhancers	Fetal Brain Male	brain
36	chr5:177783000-177783200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
37	chr5:177783000-177783400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:177783000-177783400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr5:177783000-177783400	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr5:177783000-177783400	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr5:177783000-177783400	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr5:177783000-177783400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:177783000-177783400	Enhancers	Brain Cingulate Gyrus	brain
44	chr5:177783000-177783400	Enhancers	Brain Hippocampus Middle	brain
45	chr5:177783000-177783400	Bivalent Enhancer	Fetal Stomach	stomach
46	chr5:177783000-177783400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
47	chr5:177783000-177783600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr5:177783000-177783600	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr5:177783000-177783600	Enhancers	Placenta	Placenta
50	chr5:177783000-177783600	Enhancers	Psoas Muscle	Psoas

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