Variant report

Variant	nsv1030870
Chromosome Location	chr5:93242611-93282996
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:93244160..93246967-chr5:93249582..93251706,2	MCF-7	breast:
2	chr5:93259705..93262376-chr5:93294800..93297613,2	MCF-7	breast:
3	chr5:93250600..93251350-chr5:93422167..93422686,2	MCF-7	breast:
4	chr5:93244160..93246967-chr5:93249582..93251706,2	MCF-7	breast:
5	chr5:93241718..93244108-chr5:93244950..93247843,2	K562	blood:
6	chr5:93241718..93244108-chr5:93244950..93247843,2	K562	blood:
7	chr5:93275927..93276429-chr8:43092931..43093789,2	MCF-7	breast:
8	chr5:93227743..93229810-chr5:93246414..93248576,2	K562	blood:
9	chr5:92917150..92917848-chr5:93250486..93251539,3	MCF-7	breast:

No data

Extended variants
information (count: 1210 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1210 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530410663	chr5:93242636-93242637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147406943	chr5:93242659-93242660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139712804	chr5:93242711-93242712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550794983	chr5:93242724-93242725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567420239	chr5:93242729-93242730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538376319	chr5:93242812-93242813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536457883	chr5:93242819-93242820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188171502	chr5:93242868-93242869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565346022	chr5:93242919-93242920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575168943	chr5:93242970-93242971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576634581	chr5:93242989-93242990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191272344	chr5:93243066-93243067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs67328989	chr5:93243133-93243134	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs543687702	chr5:93243211-93243212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556908512	chr5:93243232-93243233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185848984	chr5:93243250-93243251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190335432	chr5:93243291-93243292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145428561	chr5:93243322-93243323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112431155	chr5:93243325-93243326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527782045	chr5:93243365-93243366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541475596	chr5:93243398-93243399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561318708	chr5:93243480-93243481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78423658	chr5:93243484-93243485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550421102	chr5:93243529-93243530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538604942	chr5:93243567-93243568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532698781	chr5:93243619-93243620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551859799	chr5:93243620-93243621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565485829	chr5:93243645-93243646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182105201	chr5:93243684-93243685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562632583	chr5:93243699-93243700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186865384	chr5:93243755-93243756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77845149	chr5:93243791-93243792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35530448	chr5:93243811-93243812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77938783	chr5:93243838-93243839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557178261	chr5:93243844-93243845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375744238	chr5:93243975-93243976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11741025	chr5:93244036-93244037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370078302	chr5:93244094-93244095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188928752	chr5:93244190-93244191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35168676	chr5:93244204-93244205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74597336	chr5:93244208-93244209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572605253	chr5:93244331-93244332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181300117	chr5:93244352-93244353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575288299	chr5:93244380-93244381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185508196	chr5:93244401-93244402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12109217	chr5:93244540-93244541	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs574741042	chr5:93244610-93244611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543769797	chr5:93244675-93244676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190021332	chr5:93244735-93244736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537591140	chr5:93244748-93244749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Esophageal adenocarcinoma	18519675	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
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93194200-93307600	Weak transcription	Left Ventricle	heart
2	chr5:93213000-93256400	Weak transcription	Primary B cells from cord blood	blood
3	chr5:93226800-93269600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:93228000-93266600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr5:93230600-93250800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr5:93244400-93245200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:93245200-93246200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:93246200-93250000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:93246600-93249400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:93247200-93247600	Enhancers	Brain Angular Gyrus	brain
11	chr5:93247200-93247600	Enhancers	Brain Hippocampus Middle	brain
12	chr5:93247200-93247600	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr5:93247400-93247800	Enhancers	Fetal Lung	lung
14	chr5:93248600-93249200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr5:93249400-93251800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:93249600-93261000	Weak transcription	NHDF-Ad	bronchial
17	chr5:93250000-93262200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:93250200-93273800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr5:93250800-93251800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr5:93250800-93259200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr5:93251800-93255800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr5:93252200-93253000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:93252200-93284400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr5:93252600-93253000	Enhancers	HepG2	liver
25	chr5:93253000-93259000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:93253200-93263200	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr5:93253400-93253600	Enhancers	Fetal Thymus	thymus
28	chr5:93254600-93254800	Enhancers	Dnd41	blood
29	chr5:93254800-93255800	Weak transcription	Dnd41	blood
30	chr5:93255800-93256200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr5:93255800-93256400	Enhancers	Dnd41	blood
32	chr5:93255800-93258200	Enhancers	Fetal Thymus	thymus
33	chr5:93256000-93256400	Enhancers	Thymus	Thymus
34	chr5:93256200-93259600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr5:93256400-93256800	Flanking Active TSS	Thymus	Thymus
36	chr5:93256400-93257200	Strong transcription	Primary B cells from cord blood	blood
37	chr5:93256400-93258000	Flanking Active TSS	Dnd41	blood
38	chr5:93256800-93258000	Enhancers	Thymus	Thymus
39	chr5:93257000-93270200	Weak transcription	Primary T cells from cord blood	blood
40	chr5:93257200-93287400	Weak transcription	Primary B cells from cord blood	blood
41	chr5:93257400-93260400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:93258000-93258200	Enhancers	Dnd41	blood
43	chr5:93259800-93263200	Enhancers	NHEK	skin
44	chr5:93260000-93261200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:93260000-93261400	Enhancers	HSMM	muscle
46	chr5:93260000-93261800	Enhancers	HMEC	breast
47	chr5:93260000-93263200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:93260000-93263400	Enhancers	HSMMtube	muscle
49	chr5:93260200-93261600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr5:93260400-93261400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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