Variant report

Variant	nsv1034428
Chromosome Location	chr5:105624961-105670510
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:105616059..105617713-chr5:105623412..105625878,2	MCF-7	breast:
2	chr5:105624522..105627380-chr5:105627786..105629917,2	MCF-7	breast:
3	chr5:105624522..105627380-chr5:105627786..105629917,2	MCF-7	breast:

Extended variants
information (count: 756 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:756 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558207567	chr5:105624966-105624967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565716092	chr5:105624967-105624968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186115686	chr5:105625126-105625127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544384826	chr5:105625145-105625146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560972486	chr5:105625173-105625174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7732235	chr5:105625193-105625194	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs540163591	chr5:105625263-105625264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559747049	chr5:105625316-105625317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528515196	chr5:105625382-105625383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551835173	chr5:105625389-105625390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190966041	chr5:105625475-105625476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531076949	chr5:105625484-105625485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376637627	chr5:105625485-105625486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551109946	chr5:105625486-105625487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567773874	chr5:105625503-105625504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536916943	chr5:105625519-105625520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116042852	chr5:105625531-105625532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566854091	chr5:105625541-105625542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538230629	chr5:105625554-105625555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576094500	chr5:105625563-105625564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558170717	chr5:105625568-105625569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574991774	chr5:105625646-105625647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537547033	chr5:105625647-105625648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567835768	chr5:105625650-105625651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561704900	chr5:105625653-105625654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574559635	chr5:105625654-105625655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540489987	chr5:105625675-105625676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141415744	chr5:105625684-105625685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374915900	chr5:105625705-105625706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577253011	chr5:105625738-105625739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149966300	chr5:105625749-105625750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182043462	chr5:105625829-105625830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530997034	chr5:105625831-105625832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550811986	chr5:105625915-105625916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537199028	chr5:105625927-105625928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186686804	chr5:105625931-105625932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190068993	chr5:105625944-105625945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145106366	chr5:105625955-105625956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149078057	chr5:105625971-105625972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs74531081	chr5:105625993-105625994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12658603	chr5:105626189-105626190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539293026	chr5:105626206-105626207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551707594	chr5:105626223-105626224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568522552	chr5:105626227-105626228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537911346	chr5:105626238-105626239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554388154	chr5:105626281-105626282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572221315	chr5:105626285-105626286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143133472	chr5:105626296-105626297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79233713	chr5:105626367-105626368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556548253	chr5:105626379-105626380	Enhancers Weak transcription	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
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
Breast cancer	17142309	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:105624400-105625600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:105624600-105625400	Enhancers	Hela-S3	cervix
3	chr5:105624800-105625400	Enhancers	Osteobl	bone
4	chr5:105625000-105625600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr5:105625400-105625800	Weak transcription	Osteobl	bone
6	chr5:105625400-105626400	Weak transcription	Hela-S3	cervix
7	chr5:105625600-105626000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:105625600-105626000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr5:105625800-105626600	Enhancers	Osteobl	bone
10	chr5:105626000-105627400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr5:105626000-105629400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:105626200-105626600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:105626400-105626600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:105626400-105626800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:105626400-105626800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:105626400-105626800	Enhancers	Hela-S3	cervix
17	chr5:105626600-105628000	Weak transcription	Osteobl	bone
18	chr5:105626600-105629600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:105626800-105628000	Weak transcription	Hela-S3	cervix
20	chr5:105626800-105628600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:105627400-105627800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr5:105627800-105629600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr5:105628000-105629400	Enhancers	Osteobl	bone
24	chr5:105628400-105628600	Enhancers	Hela-S3	cervix
25	chr5:105628600-105631600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:105629600-105631400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:105630000-105630400	Enhancers	H9 Cell Line	embryonic stem cell
28	chr5:105630000-105630400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:105630000-105630600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr5:105630000-105630600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr5:105630000-105630800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr5:105630200-105630600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr5:105639000-105639600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:105639200-105639600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:105639600-105639800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr5:105639600-105640200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:105639800-105640000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr5:105639800-105640000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr5:105639800-105640000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:105640000-105640200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr5:105640000-105640200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:105640000-105640200	Enhancers	Osteobl	bone
43	chr5:105640000-105641200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr5:105640000-105641400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr5:105640200-105641200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr5:105641200-105643200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr5:105641200-105643800	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr5:105641400-105643400	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr5:105641600-105642000	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr5:105641600-105643200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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