Variant report

Variant	nsv599196
Chromosome Location	chr5:103031941-103086147
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:103076756..103079448-chr5:103079911..103082424,2	K562	blood:
2	chr5:103079665..103081704-chr5:103159850..103162204,2	K562	blood:
3	chr5:103014005..103016419-chr5:103036291..103038603,2	MCF-7	breast:
4	chr5:103082740..103085193-chr5:103090914..103092473,2	MCF-7	breast:
5	chr5:103078614..103081128-chr5:103127289..103130175,2	MCF-7	breast:
6	chr5:103076756..103079448-chr5:103079911..103082424,2	K562	blood:

Extended variants
information (count: 801 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:801 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578325	chr5:103031941-103031942	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565540661	chr5:103031943-103031944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73774969	chr5:103031948-103031949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs649010	chr5:103031973-103031974	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs570982018	chr5:103032003-103032004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375442104	chr5:103032016-103032017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199745868	chr5:103032030-103032031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs33997912	chr5:103032031-103032032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111633071	chr5:103032039-103032040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573989083	chr5:103032052-103032053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs397883023	chr5:103032053-103032054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556861639	chr5:103032065-103032066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531976930	chr5:103032140-103032141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138004118	chr5:103032142-103032143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553192354	chr5:103032203-103032204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573289976	chr5:103032219-103032220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545392421	chr5:103032249-103032250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559124547	chr5:103032252-103032253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553478565	chr5:103032253-103032254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575795339	chr5:103032280-103032281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544833596	chr5:103032283-103032284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs636941	chr5:103032324-103032325	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs371194872	chr5:103032345-103032346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530265557	chr5:103032355-103032356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143482780	chr5:103032373-103032374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551976730	chr5:103032385-103032386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147300114	chr5:103032391-103032392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545115014	chr5:103032416-103032417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528097914	chr5:103032417-103032418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548778256	chr5:103032511-103032512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568811198	chr5:103032518-103032519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183257220	chr5:103032519-103032520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534233709	chr5:103032557-103032558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116501851	chr5:103032607-103032608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554397130	chr5:103032608-103032609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567360006	chr5:103032638-103032639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186566673	chr5:103032641-103032642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148762959	chr5:103032642-103032643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566754554	chr5:103032643-103032644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539072288	chr5:103032662-103032663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114166026	chr5:103032713-103032714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116471188	chr5:103032716-103032717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537954750	chr5:103032747-103032748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141585027	chr5:103032782-103032783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574947552	chr5:103032808-103032809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115873896	chr5:103032819-103032820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191166203	chr5:103032836-103032837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183007723	chr5:103032847-103032848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs634248	chr5:103032867-103032868	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs186708784	chr5:103032922-103032923	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
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	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:103030000-103033400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:103033400-103033800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:103037800-103038000	ZNF genes & repeats	Pancreas	Pancrea
4	chr5:103039000-103039800	Enhancers	NHEK	skin
5	chr5:103039000-103040400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:103039200-103040200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:103039800-103040200	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr5:103042600-103043000	Enhancers	Fetal Stomach	stomach
9	chr5:103048600-103049000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:103048600-103049400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:103049200-103050200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr5:103049600-103050400	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr5:103050400-103053200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr5:103053200-103055200	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr5:103054800-103057400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:103056200-103057200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
17	chr5:103056600-103057200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:103059400-103060600	Enhancers	Fetal Lung	lung
19	chr5:103060000-103060600	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr5:103073600-103074000	Enhancers	H9 Cell Line	embryonic stem cell
21	chr5:103076600-103077000	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr5:103077000-103078200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr5:103077800-103078600	Enhancers	Colon Smooth Muscle	Colon
24	chr5:103078200-103078400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:103078200-103078800	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr5:103078400-103083000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr5:103078600-103079400	Weak transcription	Colon Smooth Muscle	Colon
28	chr5:103078800-103079800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr5:103079000-103079800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:103079400-103079600	Enhancers	Colon Smooth Muscle	Colon
31	chr5:103079400-103079800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:103079400-103080000	Enhancers	Fetal Brain Female	brain
33	chr5:103079400-103080600	Enhancers	NH-A	brain
34	chr5:103079600-103079800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:103079600-103080000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
36	chr5:103079600-103080200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:103079600-103080200	Enhancers	Osteobl	bone
38	chr5:103079800-103080000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:103079800-103080000	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr5:103079800-103080200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:103079800-103082000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:103080000-103080200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:103080000-103080200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:103080000-103080600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:103080200-103081200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr5:103080200-103081800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:103080600-103080800	Enhancers	Osteobl	bone
48	chr5:103080600-103081800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:103081200-103082600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr5:103081600-103081800	Bivalent Enhancer	Osteobl	bone

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