Variant report

Variant	nsv525160
Chromosome Location	chr5:179597647-179611713
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:179598082..179600622-chr5:179601152..179603406,2	K562	blood:
2	chr5:179598082..179600622-chr5:179601152..179603406,2	K562	blood:
3	chr5:179603344..179605727-chr5:179894143..179896109,2	K562	blood:
4	chr5:179594862..179596612-chr5:179598475..179600165,2	MCF-7	breast:
5	chr5:179601654..179603372-chr5:179739320..179741770,2	MCF-7	breast:
6	chr5:179598097..179600752-chr5:179603179..179605823,2	K562	blood:
7	chr5:179598097..179600752-chr5:179603179..179605823,2	K562	blood:

Extended variants
information (count: 779 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:779 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1867459	chr5:179597647-179597648	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs566807440	chr5:179597662-179597663	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs150541301	chr5:179597663-179597664	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs191071106	chr5:179597676-179597677	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs183184705	chr5:179597690-179597691	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs538344135	chr5:179597695-179597696	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs186096214	chr5:179597738-179597739	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs116254746	chr5:179597764-179597765	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs56250501	chr5:179597765-179597766	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs1867458	chr5:179597784-179597785	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs572348810	chr5:179597798-179597799	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs78701906	chr5:179597814-179597815	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs142701818	chr5:179597842-179597843	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs376482094	chr5:179597904-179597905	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs6896218	chr5:179598009-179598010	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs543524638	chr5:179598042-179598043	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs147352337	chr5:179598060-179598061	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs558862118	chr5:179598075-179598076	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs139810833	chr5:179598077-179598078	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs372555631	chr5:179598078-179598079	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs6877947	chr5:179598082-179598083	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs368939588	chr5:179598095-179598096	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs566868400	chr5:179598121-179598122	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs370648537	chr5:179598141-179598142	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs527968524	chr5:179598142-179598143	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs72821992	chr5:179598221-179598222	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs375930691	chr5:179598285-179598286	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs189682481	chr5:179598293-179598294	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs538028377	chr5:179598300-179598301	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs6878341	chr5:179598329-179598330	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs574805226	chr5:179598342-179598343	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs144069050	chr5:179598343-179598344	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs572411101	chr5:179598402-179598403	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs539730930	chr5:179598403-179598404	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs557738210	chr5:179598416-179598417	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs367942349	chr5:179598431-179598432	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs559236444	chr5:179598462-179598463	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs528343557	chr5:179598480-179598481	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs148670480	chr5:179598486-179598487	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs561474092	chr5:179598492-179598493	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs551693506	chr5:179598493-179598494	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs375461690	chr5:179598513-179598514	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs573396420	chr5:179598517-179598518	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs540663928	chr5:179598525-179598526	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs142148852	chr5:179598536-179598537	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs146819613	chr5:179598537-179598538	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs139572552	chr5:179598575-179598576	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs882702	chr5:179598578-179598579	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs531968576	chr5:179598582-179598583	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs550087446	chr5:179598586-179598587	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
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
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
Autism	20808228	CNVD
small cell lung cancer	20016488	CNVD
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:276 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179595600-179597800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:179595800-179600000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:179596000-179598200	Enhancers	Fetal Stomach	stomach
4	chr5:179596200-179597800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:179596200-179598400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:179596200-179598400	Enhancers	Primary hematopoietic stem cells	blood
7	chr5:179596400-179597800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:179596400-179598000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr5:179596400-179602200	Enhancers	Fetal Brain Male	brain
10	chr5:179596800-179597800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:179596800-179597800	Enhancers	Ovary	ovary
12	chr5:179596800-179598600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:179596800-179600200	Enhancers	Fetal Heart	heart
14	chr5:179596800-179602400	Enhancers	Placenta	Placenta
15	chr5:179596800-179604000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:179597000-179597800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
17	chr5:179597000-179598000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:179597000-179598200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
19	chr5:179597000-179601600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:179597200-179597800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr5:179597200-179598200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
22	chr5:179597200-179600000	Enhancers	Right Ventricle	heart
23	chr5:179597200-179601800	Enhancers	Brain Angular Gyrus	brain
24	chr5:179597200-179602800	Weak transcription	Right Atrium	heart
25	chr5:179597400-179597800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:179597400-179597800	Bivalent Enhancer	Lung	lung
27	chr5:179597400-179598600	Weak transcription	Left Ventricle	heart
28	chr5:179597400-179599200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr5:179597400-179602000	Enhancers	Brain Substantia Nigra	brain
30	chr5:179597400-179607600	Weak transcription	Gastric	stomach
31	chr5:179597400-179608800	Enhancers	Fetal Muscle Leg	muscle
32	chr5:179597600-179597800	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr5:179597600-179597800	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr5:179597600-179597800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
35	chr5:179597600-179597800	Bivalent Enhancer	HSMMtube	muscle
36	chr5:179597600-179599200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr5:179597600-179599400	Weak transcription	Fetal Brain Female	brain
38	chr5:179597600-179599400	Weak transcription	Fetal Lung	lung
39	chr5:179597600-179600000	Enhancers	Brain Germinal Matrix	brain
40	chr5:179597600-179602000	Enhancers	Brain Cingulate Gyrus	brain
41	chr5:179597600-179604000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr5:179597800-179598200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:179597800-179598400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:179597800-179598800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:179597800-179599000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr5:179597800-179599400	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr5:179597800-179601800	Enhancers	Brain Anterior Caudate	brain
48	chr5:179597800-179601800	Enhancers	Brain Hippocampus Middle	brain
49	chr5:179597800-179604000	Weak transcription	Ovary	ovary
50	chr5:179597800-179605600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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