Variant report

Variant	nsv598169
Chromosome Location	chr5:52363477-52366896
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	chr5:52366890..52369025-chr5:52371234..52373244,2	K562	blood:

Extended variants
information (count: 137 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3212558	chr5:52363477-52363478	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs3212559	chr5:52363479-52363480	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2056403	chr5:52363499-52363500	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs3212689	chr5:52363500-52363501	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533132762	chr5:52363505-52363506	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190364529	chr5:52363557-52363558	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546195051	chr5:52363566-52363567	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138289210	chr5:52363572-52363573	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149633750	chr5:52363600-52363601	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2056402	chr5:52363626-52363627	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs374990445	chr5:52363656-52363657	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549157423	chr5:52363675-52363676	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2056401	chr5:52363759-52363760	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs537965086	chr5:52363799-52363800	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143400944	chr5:52363816-52363817	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532400063	chr5:52363888-52363889	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539596097	chr5:52363938-52363939	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs3212690	chr5:52363961-52363962	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs553929367	chr5:52364021-52364022	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572443354	chr5:52364048-52364049	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141957525	chr5:52364086-52364087	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146315595	chr5:52364112-52364113	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573540536	chr5:52364115-52364116	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543988348	chr5:52364143-52364144	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs3212560	chr5:52364161-52364162	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs578097609	chr5:52364167-52364168	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577798304	chr5:52364205-52364206	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550620937	chr5:52364206-52364207	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368654430	chr5:52364268-52364269	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs3212561	chr5:52364303-52364304	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs527589447	chr5:52364307-52364308	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549221364	chr5:52364316-52364317	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs3212562	chr5:52364317-52364318	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139610933	chr5:52364351-52364352	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142888896	chr5:52364417-52364418	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537320080	chr5:52364444-52364445	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs193054288	chr5:52364454-52364455	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555090569	chr5:52364464-52364465	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146236362	chr5:52364473-52364474	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs139157772	chr5:52364502-52364503	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547630830	chr5:52364552-52364553	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573542957	chr5:52364582-52364583	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536552722	chr5:52364674-52364675	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185766636	chr5:52364675-52364676	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576141306	chr5:52364701-52364702	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs117279333	chr5:52364755-52364756	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557368536	chr5:52364757-52364758	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537882554	chr5:52364839-52364840	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189018896	chr5:52364872-52364873	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12522165	chr5:52364914-52364915	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52328000-52369200	Weak transcription	Fetal Intestine Small	intestine
2	chr5:52333800-52369800	Weak transcription	Colonic Mucosa	Colon
3	chr5:52333800-52392600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr5:52334800-52380800	Weak transcription	Stomach Mucosa	stomach
5	chr5:52334800-52391200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:52336400-52399800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:52337400-52369000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr5:52337400-52370200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr5:52341200-52396400	Strong transcription	HMEC	breast
10	chr5:52341400-52396400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:52342000-52367200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr5:52342400-52363600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr5:52342600-52383800	Strong transcription	NHEK	skin
14	chr5:52343400-52392800	Weak transcription	Left Ventricle	heart
15	chr5:52344000-52369200	Weak transcription	Pancreas	Pancrea
16	chr5:52346200-52386800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr5:52346600-52369200	Weak transcription	Brain Angular Gyrus	brain
18	chr5:52347200-52370000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr5:52347600-52387000	Weak transcription	Fetal Stomach	stomach
20	chr5:52347800-52369200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr5:52347800-52395000	Weak transcription	Psoas Muscle	Psoas
22	chr5:52348600-52371000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr5:52348600-52394800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr5:52349000-52370200	Weak transcription	Dnd41	blood
25	chr5:52349400-52379600	Weak transcription	Fetal Muscle Leg	muscle
26	chr5:52349600-52369000	Weak transcription	Lung	lung
27	chr5:52349600-52371400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:52352400-52379200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr5:52352400-52389800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:52353000-52364600	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr5:52353000-52367800	Weak transcription	Aorta	Aorta
32	chr5:52354200-52368800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr5:52354200-52372000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr5:52355600-52371000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr5:52356800-52370800	Weak transcription	Brain Anterior Caudate	brain
36	chr5:52356800-52394000	Weak transcription	Fetal Kidney	kidney
37	chr5:52357000-52367200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:52357200-52369200	Weak transcription	Esophagus	oesophagus
39	chr5:52357200-52371400	Weak transcription	Gastric	stomach
40	chr5:52357400-52367800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:52357400-52369000	Weak transcription	Brain Hippocampus Middle	brain
42	chr5:52357400-52370400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr5:52358200-52364000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr5:52358400-52365400	Weak transcription	Fetal Intestine Large	intestine
45	chr5:52359400-52366800	Weak transcription	NHLF	lung
46	chr5:52359400-52367000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:52359400-52380000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr5:52360200-52388800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr5:52360400-52365000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:52360400-52365000	Strong transcription	NH-A	brain

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