Variant report

Variant	nsv881091
Chromosome Location	chr5:52366284-52375199
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:52372832..52374615-chr5:52379311..52380988,2	K562	blood:
2	chr5:52366890..52369025-chr5:52371234..52373244,2	K562	blood:
3	chr5:52240942..52242706-chr5:52367816..52370164,2	MCF-7	breast:
4	chr5:52366890..52369025-chr5:52371234..52373244,2	K562	blood:
5	chr5:52372459..52375173-chr5:52375877..52379453,3	MCF-7	breast:

Extended variants
information (count: 361 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:361 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3212567	chr5:52366284-52366285	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs3212568	chr5:52366336-52366337	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs535963927	chr5:52366371-52366372	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs3212569	chr5:52366381-52366382	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs3212570	chr5:52366395-52366396	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs566108876	chr5:52366428-52366429	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543329754	chr5:52366441-52366442	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555595469	chr5:52366482-52366483	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7733417	chr5:52366504-52366505	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541067222	chr5:52366524-52366525	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370852656	chr5:52366551-52366552	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181391708	chr5:52366617-52366618	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs3212571	chr5:52366634-52366635	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs141047596	chr5:52366694-52366695	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186019035	chr5:52366706-52366707	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191976142	chr5:52366717-52366718	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs3212572	chr5:52366720-52366721	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs398108916	chr5:52366726-52366727	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112169416	chr5:52366727-52366728	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs3212573	chr5:52366758-52366759	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs150258463	chr5:52366778-52366779	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs3212574	chr5:52366779-52366780	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs138940979	chr5:52366808-52366809	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12517446	chr5:52366880-52366881	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs3212575	chr5:52366896-52366897	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs3212576	chr5:52366905-52366906	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs142286149	chr5:52366969-52366970	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs199909391	chr5:52367086-52367087	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201963454	chr5:52367089-52367090	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs3212577	chr5:52367090-52367091	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563562399	chr5:52367119-52367120	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs3212578	chr5:52367146-52367147	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs3212579	chr5:52367178-52367179	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs534558456	chr5:52367207-52367208	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs553339555	chr5:52367241-52367242	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561583878	chr5:52367267-52367268	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542328897	chr5:52367283-52367284	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183712240	chr5:52367309-52367310	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145629734	chr5:52367346-52367347	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575790986	chr5:52367370-52367371	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77577889	chr5:52367399-52367400	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528780152	chr5:52367400-52367401	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs564668913	chr5:52367424-52367425	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs3212691	chr5:52367443-52367444	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs546939109	chr5:52367526-52367527	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs540654550	chr5:52367534-52367535	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs138243085	chr5:52367539-52367540	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs2287873	chr5:52367549-52367550	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs548148095	chr5:52367553-52367554	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs569685672	chr5:52367612-52367613	Weak transcription Strong transcription 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:221 , 50 per page) page: 1 2 3 4 5

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	chr5:52342600-52383800	Strong transcription	NHEK	skin
13	chr5:52343400-52392800	Weak transcription	Left Ventricle	heart
14	chr5:52344000-52369200	Weak transcription	Pancreas	Pancrea
15	chr5:52346200-52386800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr5:52346600-52369200	Weak transcription	Brain Angular Gyrus	brain
17	chr5:52347200-52370000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr5:52347600-52387000	Weak transcription	Fetal Stomach	stomach
19	chr5:52347800-52369200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr5:52347800-52395000	Weak transcription	Psoas Muscle	Psoas
21	chr5:52348600-52371000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr5:52348600-52394800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr5:52349000-52370200	Weak transcription	Dnd41	blood
24	chr5:52349400-52379600	Weak transcription	Fetal Muscle Leg	muscle
25	chr5:52349600-52369000	Weak transcription	Lung	lung
26	chr5:52349600-52371400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:52352400-52379200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr5:52352400-52389800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:52353000-52367800	Weak transcription	Aorta	Aorta
30	chr5:52354200-52368800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr5:52354200-52372000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr5:52355600-52371000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr5:52356800-52370800	Weak transcription	Brain Anterior Caudate	brain
34	chr5:52356800-52394000	Weak transcription	Fetal Kidney	kidney
35	chr5:52357000-52367200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:52357200-52369200	Weak transcription	Esophagus	oesophagus
37	chr5:52357200-52371400	Weak transcription	Gastric	stomach
38	chr5:52357400-52367800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr5:52357400-52369000	Weak transcription	Brain Hippocampus Middle	brain
40	chr5:52357400-52370400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr5:52359400-52366800	Weak transcription	NHLF	lung
42	chr5:52359400-52367000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:52359400-52380000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr5:52360200-52388800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr5:52360600-52374200	Strong transcription	Hela-S3	cervix
46	chr5:52361200-52392800	Weak transcription	Small Intestine	intestine
47	chr5:52361800-52368200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr5:52362200-52387800	Strong transcription	HepG2	liver
49	chr5:52362400-52367600	Weak transcription	Fetal Heart	heart
50	chr5:52362400-52382400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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