Variant report

Variant	nsv523619
Chromosome Location	chr5:107999505-108016782
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:108013253..108015897-chr5:108063039..108065514,2	K562	blood:
2	chr5:108007837..108010584-chr5:108014407..108016726,2	MCF-7	breast:
3	chr5:108013986..108016606-chr5:108083004..108086499,3	MCF-7	breast:
4	chr5:107999341..108002221-chr5:108004738..108006270,2	K562	blood:
5	chr5:108016385..108017936-chr5:108083051..108084580,2	K562	blood:
6	chr5:108007837..108010584-chr5:108014407..108016726,2	MCF-7	breast:
7	chr5:108016773..108017600-chr5:108774230..108775023,2	MCF-7	breast:
8	chr5:108010422..108012038-chr5:108013854..108016187,2	K562	blood:
9	chr5:108010422..108012038-chr5:108013854..108016187,2	K562	blood:
10	chr5:107999341..108002221-chr5:108004738..108006270,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000151422	chromatin interactions
ENSG00000272523	chromatin interactions

Extended variants
information (count: 712 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:712 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1355079	chr5:107999505-107999506	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186127564	chr5:107999508-107999509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569826184	chr5:107999535-107999536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189858885	chr5:107999540-107999541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368556106	chr5:107999558-107999559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372267582	chr5:107999570-107999571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530953516	chr5:107999620-107999621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557430528	chr5:107999629-107999630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573979308	chr5:107999643-107999644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542943566	chr5:107999650-107999651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559240286	chr5:107999653-107999654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370640014	chr5:107999699-107999700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528302411	chr5:107999750-107999751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552287834	chr5:107999773-107999774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376856211	chr5:107999797-107999798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140372711	chr5:107999808-107999809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77571094	chr5:107999823-107999824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542084188	chr5:107999844-107999845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs36096077	chr5:107999855-107999856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144205948	chr5:107999900-107999901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566972508	chr5:107999907-107999908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575214546	chr5:107999911-107999912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538544389	chr5:107999918-107999919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549660777	chr5:107999919-107999920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566106446	chr5:107999974-107999975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535244358	chr5:107999981-107999982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558101775	chr5:107999991-107999992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368603670	chr5:108000025-108000026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565848239	chr5:108000092-108000093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571703758	chr5:108000136-108000137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182135224	chr5:108000181-108000182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557345217	chr5:108000197-108000198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147341820	chr5:108000198-108000199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542906727	chr5:108000249-108000250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553251633	chr5:108000271-108000272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114647589	chr5:108000277-108000278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140653985	chr5:108000318-108000319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186535617	chr5:108000365-108000366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140235921	chr5:108000440-108000441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375834745	chr5:108000445-108000446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530520624	chr5:108000447-108000448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74861117	chr5:108000478-108000479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145661124	chr5:108000498-108000499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35625694	chr5:108000530-108000531	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs554663645	chr5:108000566-108000567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145369125	chr5:108000579-108000580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566342852	chr5:108000669-108000670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191394368	chr5:108000698-108000699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551947000	chr5:108000733-108000734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4957562	chr5:108000743-108000744	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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
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
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
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107990000-108006200	Weak transcription	Fetal Heart	heart
2	chr5:107999000-108006400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:108006200-108006400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:108006200-108007000	Enhancers	Brain Substantia Nigra	brain
5	chr5:108006200-108007200	Enhancers	Fetal Heart	heart
6	chr5:108006200-108007400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:108006200-108007400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr5:108006200-108007400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:108006200-108007400	Enhancers	Brain Angular Gyrus	brain
10	chr5:108006400-108006600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:108006400-108006600	Enhancers	Pancreas	Pancrea
12	chr5:108006400-108006800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:108006400-108006800	Enhancers	Lung	lung
14	chr5:108006400-108007000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:108006400-108007000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:108006400-108007000	Enhancers	Fetal Lung	lung
17	chr5:108006400-108007000	Enhancers	Left Ventricle	heart
18	chr5:108006400-108007000	Enhancers	Right Atrium	heart
19	chr5:108006400-108007200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr5:108006400-108007200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:108006400-108007200	Enhancers	HepG2	liver
22	chr5:108006400-108007200	Enhancers	HMEC	breast
23	chr5:108006400-108007400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:108006400-108007600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:108006600-108006800	Enhancers	Osteobl	bone
26	chr5:108006600-108007000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:108006600-108007000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:108006600-108007000	Enhancers	Brain Cingulate Gyrus	brain
29	chr5:108006600-108007000	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr5:108006600-108007000	Weak transcription	Pancreas	Pancrea
31	chr5:108006600-108007200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr5:108006600-108007400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:108006600-108008800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr5:108006800-108007000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr5:108006800-108007000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
36	chr5:108006800-108007000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
37	chr5:108006800-108007000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
38	chr5:108006800-108007600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr5:108006800-108008000	Enhancers	Brain Anterior Caudate	brain
40	chr5:108007000-108034800	Weak transcription	Right Atrium	heart
41	chr5:108007200-108009200	Weak transcription	Fetal Heart	heart
42	chr5:108007400-108008200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:108007400-108010400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:108007600-108008000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:108007600-108008000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr5:108007600-108012000	Weak transcription	Aorta	Aorta
47	chr5:108007800-108009000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr5:108008000-108008200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
49	chr5:108008000-108008200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr5:108008000-108009000	Enhancers	HUES6 Cell Line	embryonic stem cell

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