Variant report

Variant	nsv880332
Chromosome Location	chr5:52349868-52353959
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:52342580..52344559-chr5:52347867..52350544,2	K562	blood:
2	chr5:52351776..52352321-chr9:91925750..91926479,2	MCF-7	breast:
3	chr5:52352312..52354080-chr5:52355424..52357750,2	K562	blood:

Variant related genes	Relation type
ENSG00000123975	chromatin interactions

Extended variants
information (count: 185 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:185 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1421930	chr5:52349868-52349869	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376687828	chr5:52349928-52349929	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560783705	chr5:52349931-52349932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572499405	chr5:52349959-52349960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2910966	chr5:52349993-52349994	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs371590555	chr5:52349995-52349996	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75218459	chr5:52350013-52350014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111302885	chr5:52350016-52350017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528878065	chr5:52350026-52350027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190386196	chr5:52350030-52350031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192676445	chr5:52350054-52350055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550186718	chr5:52350078-52350079	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs3212514	chr5:52350084-52350085	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs150435408	chr5:52350088-52350089	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535328360	chr5:52350096-52350097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566671631	chr5:52350100-52350101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2032803	chr5:52350101-52350102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145548117	chr5:52350102-52350103	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76145463	chr5:52350104-52350105	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76603098	chr5:52350131-52350132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567595626	chr5:52350191-52350192	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538123047	chr5:52350222-52350223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148879313	chr5:52350313-52350314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556634240	chr5:52350342-52350343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577954232	chr5:52350361-52350362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2910965	chr5:52350387-52350388	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs553935501	chr5:52350408-52350409	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575776270	chr5:52350412-52350413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572612898	chr5:52350413-52350414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542822592	chr5:52350434-52350435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs3212515	chr5:52350438-52350439	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs550092066	chr5:52350463-52350464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34549488	chr5:52350516-52350517	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2910964	chr5:52350521-52350522	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs543704670	chr5:52350574-52350575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562149936	chr5:52350582-52350583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs3212516	chr5:52350611-52350612	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs183742374	chr5:52350617-52350618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188413799	chr5:52350619-52350620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2910963	chr5:52350633-52350634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543481701	chr5:52350659-52350660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527358752	chr5:52350685-52350686	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs3212517	chr5:52350719-52350720	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs138127214	chr5:52350742-52350743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181169094	chr5:52350815-52350816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538189018	chr5:52350822-52350823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75629700	chr5:52350852-52350853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76434326	chr5:52350862-52350863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375588333	chr5:52350886-52350887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571624071	chr5:52350933-52350934	Weak transcription Strong transcription	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:81 , 50 per page) page: 1 2

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	chr5:52343400-52350000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:52343400-52357200	Strong transcription	HUVEC	blood vessel
26	chr5:52343400-52392800	Weak transcription	Left Ventricle	heart
27	chr5:52344000-52369200	Weak transcription	Pancreas	Pancrea
28	chr5:52344200-52356000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr5:52344400-52356400	Weak transcription	Esophagus	oesophagus
30	chr5:52344400-52356400	Weak transcription	Gastric	stomach
31	chr5:52345600-52350800	Strong transcription	Hela-S3	cervix
32	chr5:52346200-52386800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr5:52346600-52369200	Weak transcription	Brain Angular Gyrus	brain
34	chr5:52347000-52353000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr5:52347200-52370000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr5:52347600-52387000	Weak transcription	Fetal Stomach	stomach
37	chr5:52347800-52350200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:52347800-52369200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr5:52347800-52395000	Weak transcription	Psoas Muscle	Psoas
40	chr5:52348200-52359000	Strong transcription	NH-A	brain
41	chr5:52348600-52371000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr5:52348600-52394800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr5:52348800-52353800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr5:52348800-52356000	Weak transcription	Brain Hippocampus Middle	brain
45	chr5:52349000-52370200	Weak transcription	Dnd41	blood
46	chr5:52349200-52354600	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr5:52349400-52361400	Weak transcription	A549	lung
48	chr5:52349400-52362800	Weak transcription	Brain Substantia Nigra	brain
49	chr5:52349400-52379600	Weak transcription	Fetal Muscle Leg	muscle
50	chr5:52349600-52351200	Weak transcription	Spleen	Spleen

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