Variant report

Variant	nsv517414
Chromosome Location	chr5:167462765-167465018
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr5:167464433-167464613	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:167464115..167466573-chr5:167468341..167471006,2	K562	blood:

Variant related genes	Relation type
ENSG00000253065	TF binding region

Extended variants
information (count: 122 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6897051	chr5:167462765-167462766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537275238	chr5:167462799-167462800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568748491	chr5:167462815-167462816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537302188	chr5:167462860-167462861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556171448	chr5:167462870-167462871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575939667	chr5:167462880-167462881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142831375	chr5:167462903-167462904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558665001	chr5:167462919-167462920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572142923	chr5:167462943-167462944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541241616	chr5:167462955-167462956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6897683	chr5:167462967-167462968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs147374424	chr5:167462968-167462969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200252743	chr5:167463001-167463002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543345833	chr5:167463017-167463018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138039343	chr5:167463020-167463021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532384363	chr5:167463136-167463137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143545894	chr5:167463156-167463157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2337116	chr5:167463190-167463191	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs189926380	chr5:167463202-167463203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548380471	chr5:167463203-167463204	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568558845	chr5:167463218-167463219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113162324	chr5:167463275-167463276	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550977542	chr5:167463276-167463277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540980951	chr5:167463324-167463325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535643312	chr5:167463336-167463337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111830278	chr5:167463367-167463368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535788288	chr5:167463408-167463409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558552132	chr5:167463417-167463418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113584008	chr5:167463449-167463450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2337117	chr5:167463450-167463451	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs375512547	chr5:167463456-167463457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368957532	chr5:167463484-167463485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574534978	chr5:167463527-167463528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543733389	chr5:167463540-167463541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373193987	chr5:167463589-167463590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577566436	chr5:167463596-167463597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201087090	chr5:167463639-167463640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs60958382	chr5:167463647-167463648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563411351	chr5:167463648-167463649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs72315638	chr5:167463649-167463650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77602169	chr5:167463650-167463651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11289106	chr5:167463652-167463653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs56128583	chr5:167463667-167463668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs61665761	chr5:167463668-167463669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56397479	chr5:167463669-167463670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs56329489	chr5:167463672-167463673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs55945373	chr5:167463680-167463681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575960979	chr5:167463682-167463683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs60784450	chr5:167463700-167463701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375595532	chr5:167463702-167463703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
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
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
Myelofibrosis	22110671	CNVD
Breast cancer	16865294	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

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167443800-167466000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:167447600-167483000	Weak transcription	Right Atrium	heart
3	chr5:167450600-167466600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:167450800-167474000	Weak transcription	Left Ventricle	heart
5	chr5:167454600-167463000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:167455200-167474600	Weak transcription	NHEK	skin
7	chr5:167457400-167469000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:167457600-167463800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:167457800-167465200	Weak transcription	Right Ventricle	heart
10	chr5:167458200-167474200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:167463000-167463400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:167463400-167464200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:167463800-167470800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:167464200-167465400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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