Variant report

Variant	nsv1025586
Chromosome Location	chr5:98574953-98625270
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	chr5:98571402..98573856-chr5:98574423..98577083,2	K562	blood:

Extended variants
information (count: 579 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:579 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6596768	chr5:98574953-98574954	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551028379	chr5:98574977-98574978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188163638	chr5:98575083-98575084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374032677	chr5:98575136-98575137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192914433	chr5:98575150-98575151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548793080	chr5:98575163-98575164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185127906	chr5:98575174-98575175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34560849	chr5:98575184-98575185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534255411	chr5:98575191-98575192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140201678	chr5:98575255-98575256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570790579	chr5:98575257-98575258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562823659	chr5:98575303-98575304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538216767	chr5:98575349-98575350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546734886	chr5:98575376-98575377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6863194	chr5:98575406-98575407	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs116601319	chr5:98575414-98575415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs58349538	chr5:98575433-98575434	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs374667960	chr5:98575500-98575501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572625910	chr5:98575596-98575597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116461099	chr5:98575627-98575628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564979499	chr5:98575632-98575633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532042334	chr5:98575633-98575634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142265478	chr5:98575655-98575656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563080732	chr5:98575666-98575667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115393243	chr5:98575667-98575668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs151255683	chr5:98575804-98575805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187923547	chr5:98575816-98575817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139291808	chr5:98575817-98575818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7716779	chr5:98575821-98575822	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs570921642	chr5:98575826-98575827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537891829	chr5:98575987-98575988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550107318	chr5:98575988-98575989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111655159	chr5:98575992-98575993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567873068	chr5:98575999-98576000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560193842	chr5:98576058-98576059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538105215	chr5:98576066-98576067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532435976	chr5:98576070-98576071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7716153	chr5:98576081-98576082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572736068	chr5:98576090-98576091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147814193	chr5:98576094-98576095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11956641	chr5:98576112-98576113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73137714	chr5:98576170-98576171	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs116684821	chr5:98576210-98576211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192486686	chr5:98576213-98576214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7716477	chr5:98576246-98576247	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs74403838	chr5:98576276-98576277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183726673	chr5:98576281-98576282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs141340075	chr5:98576327-98576328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188093429	chr5:98576420-98576421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs180762993	chr5:98576431-98576432	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98574200-98579200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:98576600-98577200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:98578800-98579600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:98579200-98582800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:98582800-98584000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:98583000-98583600	Enhancers	Fetal Muscle Leg	muscle
7	chr5:98583400-98584200	Enhancers	HUVEC	blood vessel
8	chr5:98584000-98584400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:98584400-98584800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:98589400-98592400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:98591200-98591800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:98592400-98593000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:98593000-98593200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:98615200-98615600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:98621600-98622000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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