Variant report

Variant	nsv513280
Chromosome Location	chr5:177821845-177824071
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	chr5:177816543..177819082-chr5:177820341..177823036,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141608536	chr5:177821846-177821847	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs111821264	chr5:177821906-177821907	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs368148997	chr5:177821914-177821915	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs540922707	chr5:177821958-177821959	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs561112852	chr5:177821975-177821976	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs13162581	chr5:177821984-177821985	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs113163496	chr5:177821994-177821995	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs79767871	chr5:177822072-177822073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111903226	chr5:177822082-177822083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs56298603	chr5:177822148-177822149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111511403	chr5:177822160-177822161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111740307	chr5:177822170-177822171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537208292	chr5:177822248-177822249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565530372	chr5:177822307-177822308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532862066	chr5:177822308-177822309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551117897	chr5:177822557-177822558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs56157917	chr5:177822587-177822588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113952584	chr5:177822591-177822592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113990065	chr5:177823064-177823065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562962337	chr5:177823125-177823126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529774124	chr5:177823270-177823271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548012802	chr5:177823312-177823313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566120584	chr5:177823313-177823314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527248521	chr5:177823354-177823355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551766070	chr5:177823356-177823357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs55887706	chr5:177823471-177823472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534839078	chr5:177823568-177823569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375258548	chr5:177823646-177823647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369566853	chr5:177823656-177823657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113751800	chr5:177823741-177823742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13181417	chr5:177823744-177823745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570380115	chr5:177823807-177823808	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs62389399	chr5:177823828-177823829	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs556304580	chr5:177823829-177823830	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs71594790	chr5:177823832-177823833	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs568197954	chr5:177823853-177823854	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs551331712	chr5:177823854-177823855	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs536743545	chr5:177823856-177823857	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs375925872	chr5:177823895-177823896	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs369036638	chr5:177823903-177823904	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs573376092	chr5:177823926-177823927	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs540589033	chr5:177824029-177824030	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs376376318	chr5:177824035-177824036	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs559004934	chr5:177824036-177824037	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177814400-177824000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr5:177814600-177824000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:177817200-177823800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:177817600-177824000	Weak transcription	Left Ventricle	heart
5	chr5:177818600-177822000	Enhancers	Thymus	Thymus
6	chr5:177818800-177822000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr5:177819800-177824000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:177820000-177823800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:177820200-177824000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:177820400-177823800	Weak transcription	Fetal Lung	lung
11	chr5:177820400-177824000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr5:177820400-177824000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:177820400-177824000	Weak transcription	Spleen	Spleen
14	chr5:177821000-177822000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
15	chr5:177821000-177822000	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr5:177821200-177822000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
17	chr5:177821400-177822000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr5:177821400-177822000	Genic enhancers	Fetal Thymus	thymus
19	chr5:177821400-177824000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:177821600-177824000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr5:177821800-177822000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:177821800-177822000	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr5:177821800-177822000	Active TSS	HSMMtube	muscle
24	chr5:177821800-177823800	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr5:177821800-177824000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr5:177821800-177824000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr5:177821800-177824000	Weak transcription	Right Ventricle	heart
28	chr5:177821800-177826000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr5:177822000-177823800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr5:177822000-177823800	Weak transcription	Fetal Thymus	thymus
31	chr5:177822000-177823800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr5:177822000-177823800	Weak transcription	Thymus	Thymus
33	chr5:177822000-177824000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr5:177822000-177824000	Weak transcription	HSMMtube	muscle
35	chr5:177823800-177824000	Enhancers	Fetal Thymus	thymus
36	chr5:177823800-177824000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr5:177823800-177824200	Enhancers	Thymus	Thymus
38	chr5:177823800-177824400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
39	chr5:177823800-177824400	Enhancers	Fetal Brain Female	brain
40	chr5:177823800-177824600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr5:177823800-177824600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr5:177823800-177824600	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr5:177823800-177824800	Enhancers	Fetal Lung	lung
44	chr5:177823800-177825000	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr5:177824000-177824200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr5:177824000-177824200	Bivalent Enhancer	Esophagus	oesophagus
47	chr5:177824000-177824200	Bivalent Enhancer	Fetal Intestine Large	intestine
48	chr5:177824000-177824200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr5:177824000-177824200	Flanking Active TSS	Fetal Thymus	thymus
50	chr5:177824000-177824200	Enhancers	Right Ventricle	heart

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