Variant report

Variant	nsv880601
Chromosome Location	chr5:52350521-52375927
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:52372459..52375173-chr5:52375877..52379453,3	MCF-7	breast:
2	chr5:52240942..52242706-chr5:52367816..52370164,2	MCF-7	breast:
3	chr5:52366890..52369025-chr5:52371234..52373244,2	K562	blood:
4	chr5:52352312..52354080-chr5:52355424..52357750,2	K562	blood:
5	chr5:52351776..52352321-chr9:91925750..91926479,2	MCF-7	breast:
6	chr5:52372832..52374615-chr5:52379311..52380988,2	K562	blood:
7	chr5:52352312..52354080-chr5:52355424..52357750,2	K562	blood:
8	chr5:52342580..52344559-chr5:52347867..52350544,2	K562	blood:
9	chr5:52366890..52369025-chr5:52371234..52373244,2	K562	blood:
10	chr5:52372459..52375173-chr5:52375877..52379453,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000123975	chromatin interactions

Extended variants
information (count: 995 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:995 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2910964	chr5:52350521-52350522	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543704670	chr5:52350574-52350575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562149936	chr5:52350582-52350583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs3212516	chr5:52350611-52350612	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs183742374	chr5:52350617-52350618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188413799	chr5:52350619-52350620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2910963	chr5:52350633-52350634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543481701	chr5:52350659-52350660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527358752	chr5:52350685-52350686	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs3212517	chr5:52350719-52350720	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs138127214	chr5:52350742-52350743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181169094	chr5:52350815-52350816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538189018	chr5:52350822-52350823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75629700	chr5:52350852-52350853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76434326	chr5:52350862-52350863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375588333	chr5:52350886-52350887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571624071	chr5:52350933-52350934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544939416	chr5:52350965-52350966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537542782	chr5:52350989-52350990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538621556	chr5:52351029-52351030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554260192	chr5:52351111-52351112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs3212518	chr5:52351143-52351144	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs3212519	chr5:52351182-52351183	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs2910962	chr5:52351236-52351237	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs2974987	chr5:52351242-52351243	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs543718645	chr5:52351275-52351276	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377478203	chr5:52351326-52351327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558953467	chr5:52351343-52351344	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560277383	chr5:52351356-52351357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs202058704	chr5:52351357-52351358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1139484	chr5:52351377-52351378	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs560079800	chr5:52351382-52351383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1062535	chr5:52351413-52351414	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs3212521	chr5:52351437-52351438	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs41377544	chr5:52351459-52351460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545061050	chr5:52351495-52351496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376467671	chr5:52351501-52351502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561065188	chr5:52351549-52351550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531490711	chr5:52351552-52351553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190090827	chr5:52351582-52351583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571423556	chr5:52351631-52351632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532414218	chr5:52351638-52351639	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370105704	chr5:52351645-52351646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547507002	chr5:52351648-52351649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565112085	chr5:52351709-52351710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566054262	chr5:52351733-52351734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536350815	chr5:52351739-52351740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs3212522	chr5:52351746-52351747	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs371002070	chr5:52351784-52351785	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs372589985	chr5:52351805-52351806	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	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:374 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52324400-52356400	Weak transcription	Brain Anterior Caudate	brain
2	chr5:52328000-52369200	Weak transcription	Fetal Intestine Small	intestine
3	chr5:52333800-52369800	Weak transcription	Colonic Mucosa	Colon
4	chr5:52333800-52392600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr5:52334000-52360800	Weak transcription	Small Intestine	intestine
6	chr5:52334800-52380800	Weak transcription	Stomach Mucosa	stomach
7	chr5:52334800-52391200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:52336400-52399800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:52337200-52353400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr5:52337400-52355200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:52337400-52369000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr5:52337400-52370200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:52341200-52396400	Strong transcription	HMEC	breast
14	chr5:52341400-52359000	Weak transcription	NHDF-Ad	bronchial
15	chr5:52341400-52396400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:52341800-52358800	Weak transcription	Osteobl	bone
17	chr5:52342000-52367200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr5:52342400-52363600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr5:52342600-52383800	Strong transcription	NHEK	skin
20	chr5:52343000-52359000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:52343200-52350800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:52343200-52351800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:52343200-52361800	Strong transcription	HepG2	liver
24	chr5:52343400-52357200	Strong transcription	HUVEC	blood vessel
25	chr5:52343400-52392800	Weak transcription	Left Ventricle	heart
26	chr5:52344000-52369200	Weak transcription	Pancreas	Pancrea
27	chr5:52344200-52356000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr5:52344400-52356400	Weak transcription	Esophagus	oesophagus
29	chr5:52344400-52356400	Weak transcription	Gastric	stomach
30	chr5:52345600-52350800	Strong transcription	Hela-S3	cervix
31	chr5:52346200-52386800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr5:52346600-52369200	Weak transcription	Brain Angular Gyrus	brain
33	chr5:52347000-52353000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr5:52347200-52370000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr5:52347600-52387000	Weak transcription	Fetal Stomach	stomach
36	chr5:52347800-52369200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr5:52347800-52395000	Weak transcription	Psoas Muscle	Psoas
38	chr5:52348200-52359000	Strong transcription	NH-A	brain
39	chr5:52348600-52371000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr5:52348600-52394800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr5:52348800-52353800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr5:52348800-52356000	Weak transcription	Brain Hippocampus Middle	brain
43	chr5:52349000-52370200	Weak transcription	Dnd41	blood
44	chr5:52349200-52354600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr5:52349400-52361400	Weak transcription	A549	lung
46	chr5:52349400-52362800	Weak transcription	Brain Substantia Nigra	brain
47	chr5:52349400-52379600	Weak transcription	Fetal Muscle Leg	muscle
48	chr5:52349600-52351200	Weak transcription	Spleen	Spleen
49	chr5:52349600-52352600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:52349600-52353800	Weak transcription	Fetal Intestine Large	intestine

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