Variant report

Variant	nsv968170
Chromosome Location	chr5:43232089-43233193
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43231339..43232689-chr5:43389498..43390405,6	MCF-7	breast:
2	chr5:43230762..43232513-chr5:43306149..43307737,2	MCF-7	breast:
3	chr5:43231996..43232636-chr5:43305803..43306570,2	MCF-7	breast:
4	chr5:43229559..43232274-chr5:43236155..43239075,3	K562	blood:
5	chr5:43231652..43232671-chr5:43305813..43306678,3	MCF-7	breast:
6	chr5:43105933..43106799-chr5:43231939..43232721,2	MCF-7	breast:
7	chr5:43230706..43233203-chr5:43482627..43484657,2	MCF-7	breast:
8	chr5:43231980..43232709-chr5:43389604..43390414,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000249492	chromatin interactions
ENSG00000151881	chromatin interactions

Extended variants
information (count: 55 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532160505	chr5:43232156-43232157	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs551571690	chr5:43232159-43232160	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs376011634	chr5:43232229-43232230	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs551982033	chr5:43232234-43232235	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs562215605	chr5:43232249-43232250	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs191090929	chr5:43232277-43232278	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs531674252	chr5:43232293-43232294	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs11747314	chr5:43232311-43232312	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs150221895	chr5:43232319-43232320	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs534007978	chr5:43232414-43232415	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs554322159	chr5:43232419-43232420	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs570989766	chr5:43232472-43232473	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs145782169	chr5:43232473-43232474	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs182851985	chr5:43232484-43232485	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs576798114	chr5:43232501-43232502	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs13169195	chr5:43232542-43232543	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs554240980	chr5:43232563-43232564	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs574392995	chr5:43232606-43232607	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs148953871	chr5:43232613-43232614	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs188370386	chr5:43232614-43232615	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs576577498	chr5:43232627-43232628	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs10056788	chr5:43232637-43232638	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs574399468	chr5:43232675-43232676	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs143778842	chr5:43232739-43232740	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs138464523	chr5:43232743-43232744	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs144109944	chr5:43232782-43232783	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs561900448	chr5:43232786-43232787	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs191547633	chr5:43232790-43232791	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs547837882	chr5:43232791-43232792	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs199673807	chr5:43232793-43232794	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs527364988	chr5:43232799-43232800	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs539977371	chr5:43232814-43232815	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs550354752	chr5:43232818-43232819	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs7727600	chr5:43232841-43232842	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs78623934	chr5:43232851-43232852	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs553870273	chr5:43232852-43232853	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs556011616	chr5:43232853-43232854	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs74607555	chr5:43232889-43232890	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs533540348	chr5:43232906-43232907	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs553393115	chr5:43232930-43232931	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs576489846	chr5:43232939-43232940	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs545496369	chr5:43232955-43232956	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs545973014	chr5:43232987-43232988	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs58488720	chr5:43233022-43233023	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs377154068	chr5:43233023-43233024	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs552729715	chr5:43233103-43233104	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs183200214	chr5:43233109-43233110	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs187527048	chr5:43233110-43233111	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs146895685	chr5:43233137-43233138	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs375732014	chr5:43233150-43233151	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
Bladder cancer	21909424	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
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Lung cancer	21569311	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43196200-43245400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:43209600-43245200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr5:43215600-43236800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:43226400-43233800	Weak transcription	GM12878-XiMat	blood
5	chr5:43230800-43232200	Weak transcription	K562	blood
6	chr5:43231000-43245600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr5:43231800-43232200	Enhancers	A549	lung
8	chr5:43231800-43232800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:43232000-43232200	Enhancers	Brain Anterior Caudate	brain
10	chr5:43232000-43232200	Enhancers	Brain Hippocampus Middle	brain
11	chr5:43232000-43232400	Enhancers	Adipose Nuclei	Adipose
12	chr5:43232000-43232400	Enhancers	Esophagus	oesophagus
13	chr5:43232000-43233000	Enhancers	Liver	Liver
14	chr5:43232000-43233200	Enhancers	Pancreas	Pancrea
15	chr5:43232200-43232800	Weak transcription	Brain Hippocampus Middle	brain
16	chr5:43232200-43233000	Enhancers	K562	blood
17	chr5:43232200-43233200	Enhancers	Brain Substantia Nigra	brain
18	chr5:43232200-43233400	Enhancers	Gastric	stomach
19	chr5:43232200-43234000	Weak transcription	Brain Angular Gyrus	brain
20	chr5:43232200-43245400	Weak transcription	Brain Anterior Caudate	brain
21	chr5:43232400-43236600	Weak transcription	Adipose Nuclei	Adipose
22	chr5:43232800-43233000	Enhancers	Brain Hippocampus Middle	brain
23	chr5:43232800-43233400	Enhancers	Lung	lung
24	chr5:43232800-43246000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr5:43233000-43233800	Weak transcription	Liver	Liver
26	chr5:43233000-43238600	Weak transcription	K562	blood
27	chr5:43233000-43245200	Weak transcription	Brain Hippocampus Middle	brain

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