Variant report

Variant	nsv968980
Chromosome Location	chr5:114848162-114849261
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:114841180..114843374-chr5:114848078..114849908,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570357615	chr5:114848177-114848178	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs113526721	chr5:114848240-114848241	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs187743899	chr5:114848248-114848249	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs546393529	chr5:114848261-114848262	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs115893998	chr5:114848298-114848299	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs535526054	chr5:114848310-114848311	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs139097955	chr5:114848347-114848348	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs369308496	chr5:114848350-114848351	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs575506102	chr5:114848397-114848398	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs538139013	chr5:114848427-114848428	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527673438	chr5:114848430-114848431	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191818047	chr5:114848454-114848455	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577971505	chr5:114848464-114848465	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540590569	chr5:114848476-114848477	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113048776	chr5:114848494-114848495	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182510230	chr5:114848496-114848497	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112123100	chr5:114848512-114848513	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542706775	chr5:114848515-114848516	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187143702	chr5:114848531-114848532	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192315895	chr5:114848533-114848534	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185219461	chr5:114848564-114848565	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565540903	chr5:114848565-114848566	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35138261	chr5:114848582-114848583	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370850478	chr5:114848611-114848612	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532812199	chr5:114848634-114848635	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149377760	chr5:114848642-114848643	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566464949	chr5:114848652-114848653	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535591738	chr5:114848657-114848658	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144676958	chr5:114848685-114848686	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569080185	chr5:114848688-114848689	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111690610	chr5:114848721-114848722	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35690726	chr5:114848724-114848725	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs577895298	chr5:114848729-114848730	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141994803	chr5:114848738-114848739	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554180499	chr5:114848756-114848757	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11740361	chr5:114848789-114848790	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs113917808	chr5:114848793-114848794	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542717468	chr5:114848816-114848817	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556199277	chr5:114848861-114848862	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576245767	chr5:114848887-114848888	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115464737	chr5:114848919-114848920	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565316565	chr5:114848921-114848922	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs193224467	chr5:114848941-114848942	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569022763	chr5:114849044-114849045	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541358225	chr5:114849051-114849052	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113256610	chr5:114849096-114849097	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560192886	chr5:114849126-114849127	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113426782	chr5:114849127-114849128	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549111581	chr5:114849141-114849142	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73251194	chr5:114849156-114849157	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:74)

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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114843200-114854800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:114843200-114858800	Weak transcription	Left Ventricle	heart
3	chr5:114843600-114860000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr5:114844000-114859000	Weak transcription	HSMMtube	muscle
5	chr5:114844200-114849800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:114844200-114853200	Weak transcription	NHDF-Ad	bronchial
7	chr5:114844200-114854200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr5:114844200-114855000	Weak transcription	HSMM	muscle
9	chr5:114844200-114858000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:114844200-114858800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr5:114844200-114859800	Weak transcription	Osteobl	bone
12	chr5:114845400-114853400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:114845400-114858600	Weak transcription	Brain Hippocampus Middle	brain
14	chr5:114845600-114862400	Weak transcription	Fetal Heart	heart
15	chr5:114846400-114860000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:114846600-114858200	Weak transcription	A549	lung
17	chr5:114846600-114860000	Weak transcription	Ovary	ovary
18	chr5:114846800-114854800	Weak transcription	Dnd41	blood
19	chr5:114846800-114858600	Weak transcription	Brain Anterior Caudate	brain
20	chr5:114846800-114860000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:114847200-114858800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr5:114847600-114849000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
23	chr5:114847600-114849400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:114847600-114858600	Weak transcription	Primary T cells from cord blood	blood
25	chr5:114847800-114848400	ZNF genes & repeats	Aorta	Aorta
26	chr5:114847800-114848400	ZNF genes & repeats	Brain Germinal Matrix	brain
27	chr5:114848000-114848200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:114848000-114848400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:114848000-114858200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr5:114848000-114860400	Weak transcription	Esophagus	oesophagus
31	chr5:114848200-114848600	ZNF genes & repeats	Thymus	Thymus
32	chr5:114848200-114849400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:114848400-114849600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr5:114848400-114858600	Weak transcription	Brain Germinal Matrix	brain
35	chr5:114848400-114860200	Weak transcription	Aorta	Aorta
36	chr5:114848600-114857200	Weak transcription	GM12878-XiMat	blood
37	chr5:114848600-114860200	Weak transcription	Thymus	Thymus
38	chr5:114848800-114849200	Enhancers	K562	blood
39	chr5:114849000-114849200	Enhancers	HepG2	liver
40	chr5:114849000-114850000	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr5:114849000-114858600	Weak transcription	Primary B cells from cord blood	blood
42	chr5:114849200-114850400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:114849200-114858200	Weak transcription	K562	blood
44	chr5:114849200-114859200	Weak transcription	HepG2	liver

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