Variant report

Variant	nsv598167
Chromosome Location	chr5:52351236-52354314
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	chr5:52352312..52354080-chr5:52355424..52357750,2	K562	blood:
2	chr5:52351776..52352321-chr9:91925750..91926479,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123975	chromatin interactions

Extended variants
information (count: 143 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2910962	chr5:52351236-52351237	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs2974987	chr5:52351242-52351243	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs543718645	chr5:52351275-52351276	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377478203	chr5:52351326-52351327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558953467	chr5:52351343-52351344	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560277383	chr5:52351356-52351357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs202058704	chr5:52351357-52351358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1139484	chr5:52351377-52351378	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs560079800	chr5:52351382-52351383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1062535	chr5:52351413-52351414	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs3212521	chr5:52351437-52351438	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs41377544	chr5:52351459-52351460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545061050	chr5:52351495-52351496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376467671	chr5:52351501-52351502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561065188	chr5:52351549-52351550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531490711	chr5:52351552-52351553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190090827	chr5:52351582-52351583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571423556	chr5:52351631-52351632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532414218	chr5:52351638-52351639	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370105704	chr5:52351645-52351646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547507002	chr5:52351648-52351649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565112085	chr5:52351709-52351710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566054262	chr5:52351733-52351734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536350815	chr5:52351739-52351740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs3212522	chr5:52351746-52351747	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs371002070	chr5:52351784-52351785	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs372589985	chr5:52351805-52351806	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs569932372	chr5:52351829-52351830	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs143900172	chr5:52351837-52351838	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs41272301	chr5:52351838-52351839	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs139764836	chr5:52351845-52351846	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs201919745	chr5:52351875-52351876	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs3212523	chr5:52351876-52351877	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs577503636	chr5:52351879-52351880	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs200220034	chr5:52351880-52351881	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs151146638	chr5:52351963-52351964	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs201859025	chr5:52351974-52351975	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs570925083	chr5:52351989-52351990	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs3212524	chr5:52351990-52351991	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs375452928	chr5:52351994-52351995	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs118050125	chr5:52351995-52351996	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs201058390	chr5:52351996-52351997	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs560928293	chr5:52352011-52352012	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs531556291	chr5:52352074-52352075	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs373335943	chr5:52352077-52352078	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs144597139	chr5:52352146-52352147	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs371500681	chr5:52352207-52352208	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs138540520	chr5:52352244-52352245	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs532343110	chr5:52352245-52352246	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs529928001	chr5:52352251-52352252	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:77 , 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	chr5:52343200-52351800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:52343200-52361800	Strong transcription	HepG2	liver
23	chr5:52343400-52357200	Strong transcription	HUVEC	blood vessel
24	chr5:52343400-52392800	Weak transcription	Left Ventricle	heart
25	chr5:52344000-52369200	Weak transcription	Pancreas	Pancrea
26	chr5:52344200-52356000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr5:52344400-52356400	Weak transcription	Esophagus	oesophagus
28	chr5:52344400-52356400	Weak transcription	Gastric	stomach
29	chr5:52346200-52386800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr5:52346600-52369200	Weak transcription	Brain Angular Gyrus	brain
31	chr5:52347000-52353000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr5:52347200-52370000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr5:52347600-52387000	Weak transcription	Fetal Stomach	stomach
34	chr5:52347800-52369200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr5:52347800-52395000	Weak transcription	Psoas Muscle	Psoas
36	chr5:52348200-52359000	Strong transcription	NH-A	brain
37	chr5:52348600-52371000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr5:52348600-52394800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr5:52348800-52353800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr5:52348800-52356000	Weak transcription	Brain Hippocampus Middle	brain
41	chr5:52349000-52370200	Weak transcription	Dnd41	blood
42	chr5:52349200-52354600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr5:52349400-52361400	Weak transcription	A549	lung
44	chr5:52349400-52362800	Weak transcription	Brain Substantia Nigra	brain
45	chr5:52349400-52379600	Weak transcription	Fetal Muscle Leg	muscle
46	chr5:52349600-52352600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:52349600-52353800	Weak transcription	Fetal Intestine Large	intestine
48	chr5:52349600-52356400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr5:52349600-52356400	Weak transcription	NHLF	lung
50	chr5:52349600-52356600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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