Variant report

Variant	nsv471028
Chromosome Location	chr5:103623729-103685244
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:103630146..103633049-chr5:103637946..103640879,3	K562	blood:
2	chr5:103619639..103621468-chr5:103623035..103624984,2	K562	blood:
3	chr5:103614287..103617162-chr5:103624383..103626582,2	K562	blood:
4	chr5:103633936..103636203-chr5:103642524..103644574,2	K562	blood:
5	chr5:103541472..103544045-chr5:103667629..103669884,2	K562	blood:
6	chr5:103633936..103636203-chr5:103642524..103644574,2	K562	blood:
7	chr5:103630146..103633049-chr5:103637946..103640879,3	K562	blood:
8	chr5:103662029..103663844-chr5:103689569..103691158,2	MCF-7	breast:
9	chr5:103614351..103617259-chr5:103627051..103629322,2	K562	blood:
10	chr5:103575723..103577605-chr5:103642604..103644571,2	K562	blood:
11	chr5:103677480..103679978-chr5:103685994..103688346,2	K562	blood:

No data

Extended variants
information (count: 1025 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1025 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567204314	chr5:103624202-103624203	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs539327386	chr5:103624232-103624233	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs559239285	chr5:103624277-103624278	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs575858525	chr5:103624281-103624282	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs543554344	chr5:103624287-103624288	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs556986020	chr5:103624307-103624308	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs146385743	chr5:103624327-103624328	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs188816366	chr5:103624337-103624338	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs559070988	chr5:103624354-103624355	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs12109034	chr5:103624362-103624363	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs2583911	chr5:103624405-103624406	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs564741249	chr5:103624408-103624409	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs144931259	chr5:103624436-103624437	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs530584590	chr5:103624441-103624442	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs550817872	chr5:103624500-103624501	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs181242576	chr5:103624549-103624550	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs2583912	chr5:103624567-103624568	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs529944114	chr5:103625408-103625409	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs201852406	chr5:103625411-103625412	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs370581090	chr5:103625412-103625413	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs536073284	chr5:103625437-103625438	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs575534248	chr5:103625494-103625495	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs116742236	chr5:103625579-103625580	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs186157258	chr5:103625619-103625620	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs561137828	chr5:103625642-103625643	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs35889528	chr5:103625654-103625655	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs574504329	chr5:103625682-103625683	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs145778470	chr5:103625689-103625690	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs190576995	chr5:103625705-103625706	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs182781898	chr5:103625707-103625708	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs548044059	chr5:103625726-103625727	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs532632656	chr5:103625752-103625753	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs187172124	chr5:103625767-103625768	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs561479751	chr5:103625807-103625808	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs555958720	chr5:103625830-103625831	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs141520587	chr5:103625842-103625843	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs2591442	chr5:103625859-103625860	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs532078825	chr5:103625972-103625973	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs548553884	chr5:103625974-103625975	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs568649274	chr5:103626006-103626007	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs10059552	chr5:103626075-103626076	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs112646054	chr5:103626079-103626080	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs566263942	chr5:103626080-103626081	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs190948444	chr5:103626114-103626115	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs147041460	chr5:103626134-103626135	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs182897019	chr5:103626152-103626153	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs147840566	chr5:103626166-103626167	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs7736455	chr5:103626197-103626198	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs572390550	chr5:103626199-103626200	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs142543630	chr5:103626216-103626217	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:103624200-103624600	Active TSS	A549	lung
2	chr5:103625400-103626600	Active TSS	K562	blood
3	chr5:103630600-103631400	Enhancers	Ovary	ovary
4	chr5:103631200-103631400	Enhancers	Colon Smooth Muscle	Colon
5	chr5:103631400-103632600	Weak transcription	Ovary	ovary
6	chr5:103632200-103632600	Enhancers	HSMM	muscle
7	chr5:103632200-103633400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr5:103632400-103632800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:103632400-103633400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:103632600-103632800	Enhancers	Ovary	ovary
11	chr5:103632600-103632800	Enhancers	HSMMtube	muscle
12	chr5:103632600-103633000	Enhancers	Osteobl	bone
13	chr5:103632800-103633200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:103636800-103637200	Enhancers	HepG2	liver
15	chr5:103636800-103638400	Enhancers	HUVEC	blood vessel
16	chr5:103637600-103638000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr5:103653600-103654000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:103654000-103658400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:103661200-103661400	Enhancers	Fetal Brain Male	brain
20	chr5:103662800-103663200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:103662800-103664400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:103663200-103663600	Enhancers	Fetal Brain Male	brain
23	chr5:103663400-103664200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:103663600-103667600	Weak transcription	Fetal Brain Male	brain
25	chr5:103674200-103675000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:103674600-103674800	Enhancers	Fetal Lung	lung
27	chr5:103674800-103675800	Weak transcription	Fetal Lung	lung
28	chr5:103675000-103676600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr5:103675000-103678600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:103675200-103676200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:103675200-103676400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr5:103675200-103676600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:103675600-103676200	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr5:103675600-103676400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:103675600-103676600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr5:103675800-103676200	Enhancers	Fetal Lung	lung
37	chr5:103675800-103676600	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr5:103676000-103676600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr5:103676200-103680600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:103676200-103681000	Weak transcription	Fetal Lung	lung
41	chr5:103676600-103680600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:103676600-103680800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr5:103676600-103684800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr5:103677600-103677800	Enhancers	Gastric	stomach
45	chr5:103678600-103679400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr5:103679400-103680600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:103680000-103680800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:103680200-103680800	Enhancers	NH-A	brain
49	chr5:103680400-103681000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr5:103680600-103680800	Enhancers	HMEC	breast

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