Variant report

Variant	nsv1026310
Chromosome Location	chr5:104023871-104062851
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:104028054..104030764-chr5:104032138..104034804,2	K562	blood:
2	chr5:103985280..103987996-chr5:104035377..104038063,2	MCF-7	breast:
3	chr5:104028054..104030764-chr5:104032138..104034804,2	K562	blood:
4	chr5:104033301..104035974-chr5:104038075..104040842,2	MCF-7	breast:
5	chr5:103812785..103815361-chr5:104049597..104051659,2	K562	blood:
6	chr5:104033301..104035974-chr5:104038075..104040842,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUDT12-5	chr5:104052350-104052364	NONHSAT103082
2	lnc-NUDT12-5	chr5:104052350-104052364	NONHSAT103081

No data

Extended variants
information (count: 635 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:635 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs388680	chr5:104023871-104023872	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561975059	chr5:104023897-104023898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527604350	chr5:104023924-104023925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140787445	chr5:104023948-104023949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527567473	chr5:104023950-104023951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563903630	chr5:104024013-104024014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73777464	chr5:104024015-104024016	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs1838035	chr5:104024078-104024079	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs569813192	chr5:104024081-104024082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10678626	chr5:104024095-104024096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10697782	chr5:104024096-104024097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529461516	chr5:104024153-104024154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549327070	chr5:104024184-104024185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143739063	chr5:104024202-104024203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372673402	chr5:104024205-104024206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145684843	chr5:104024238-104024239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182205120	chr5:104024281-104024282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6596585	chr5:104024293-104024294	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs148926525	chr5:104024303-104024304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186367694	chr5:104024310-104024311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs13187401	chr5:104024323-104024324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6596586	chr5:104024374-104024375	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs406056	chr5:104024375-104024376	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs435666	chr5:104024400-104024401	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs555292228	chr5:104024437-104024438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143681449	chr5:104024450-104024451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540950221	chr5:104024505-104024506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs443894	chr5:104024507-104024508	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs568671742	chr5:104033806-104033807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs369046602	chr5:104033822-104033823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs111249082	chr5:104033845-104033846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs367735552	chr5:104033861-104033862	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs571253935	chr5:104033874-104033875	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs554551110	chr5:104033878-104033879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs577261132	chr5:104033879-104033880	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs113599593	chr5:104033916-104033917	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs546225366	chr5:104033947-104033948	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs577663274	chr5:104033968-104033969	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs112672923	chr5:104033989-104033990	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs383152	chr5:104033990-104033991	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs140094142	chr5:104033999-104034000	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs141942283	chr5:104034046-104034047	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs540135719	chr5:104034048-104034049	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs373384151	chr5:104034059-104034060	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs184036580	chr5:104034072-104034073	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs73777494	chr5:104034073-104034074	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs371229279	chr5:104034078-104034079	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs551772225	chr5:104034083-104034084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs562576331	chr5:104034092-104034093	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs531289292	chr5:104034103-104034104	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
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
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
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
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
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Obesity	20622171	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104023800-104024600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:104033800-104035000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:104033800-104035200	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr5:104034000-104035200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:104034200-104035000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:104034800-104035200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr5:104035200-104036000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:104036200-104037000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:104040600-104041800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:104041000-104041600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:104041000-104041600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr5:104041200-104041600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr5:104041400-104042000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:104042000-104045800	Enhancers	HUVEC	blood vessel
15	chr5:104042400-104042800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:104043800-104044000	Enhancers	Rectal Smooth Muscle	rectum
17	chr5:104044800-104045000	Enhancers	Rectal Smooth Muscle	rectum
18	chr5:104049400-104049800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:104049800-104051200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:104051200-104053000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:104052000-104052600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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