Variant report

Variant	nsv537742
Chromosome Location	chr5:44620084-44664039
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:17)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:44659183..44661273-chr5:44664237..44666683,2	MCF-7	breast:
2	chr5:44638055..44639129-chr5:44774184..44775079,3	MCF-7	breast:
3	chr5:44632256..44634047-chr5:44651413..44653504,2	MCF-7	breast:
4	chr5:44646968..44648835-chr5:44650753..44653380,2	K562	blood:
5	chr5:44636692..44639554-chr5:44641281..44643327,2	K562	blood:
6	chr5:44632256..44634047-chr5:44651413..44653504,2	MCF-7	breast:
7	chr5:44636692..44639554-chr5:44640681..44643327,3	K562	blood:
8	chr5:44636692..44639554-chr5:44641281..44643327,2	K562	blood:
9	chr5:44636692..44639554-chr5:44640681..44643327,3	K562	blood:
10	chr5:44638989..44641160-chr5:44807793..44810471,3	K562	blood:
11	chr5:44612307..44614470-chr5:44621699..44623638,2	K562	blood:
12	chr5:44639452..44641160-chr5:44807829..44810471,2	K562	blood:
13	chr5:44643090..44645090-chr5:44647617..44650494,2	K562	blood:
14	chr5:44662835..44664454-chr5:44666112..44668170,2	K562	blood:
15	chr1:209600254..209601838-chr5:44645568..44648419,2	MCF-7	breast:
16	chr5:44646968..44648835-chr5:44650753..44653380,2	K562	blood:
17	chr5:44643090..44645090-chr5:44647617..44650494,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MRPS30-2	chr5:44633173-44633787	XLOC_004372

No data

Variant related genes	Relation type
ENSG00000112996	chromatin interactions
ENSG00000251141	chromatin interactions
RAD51	miRNA target sites

Extended variants
information (count: 999 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:999 , 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	rs561583541	chr5:44620113-44620114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536668978	chr5:44620204-44620205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190436470	chr5:44620243-44620244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546908246	chr5:44620247-44620248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567052125	chr5:44620287-44620288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115143490	chr5:44620293-44620294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571288360	chr5:44620302-44620303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538797262	chr5:44620328-44620329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4277922	chr5:44620332-44620333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77047578	chr5:44620333-44620334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141618700	chr5:44620360-44620361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77323165	chr5:44620380-44620381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573878324	chr5:44620391-44620392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536542749	chr5:44620397-44620398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79345612	chr5:44620467-44620468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567232441	chr5:44620502-44620503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182652341	chr5:44620542-44620543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200228682	chr5:44620582-44620583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188805299	chr5:44620612-44620613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192863537	chr5:44620640-44620641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575773035	chr5:44620671-44620672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530903619	chr5:44620676-44620677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536181073	chr5:44620679-44620680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561314431	chr5:44620737-44620738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144845597	chr5:44620750-44620751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550653222	chr5:44620784-44620785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74421875	chr5:44620795-44620796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs9654396	chr5:44620819-44620820	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs547264131	chr5:44620853-44620854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560584970	chr5:44620868-44620869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536871318	chr5:44620872-44620873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373766635	chr5:44620890-44620891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532744726	chr5:44620907-44620908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552327283	chr5:44620929-44620930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571027354	chr5:44620957-44620958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs377126949	chr5:44620967-44620968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183569001	chr5:44620996-44620997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4866915	chr5:44621050-44621051	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs567243473	chr5:44621063-44621064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535830420	chr5:44621069-44621070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188849524	chr5:44621091-44621092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138480897	chr5:44621104-44621105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538851899	chr5:44621154-44621155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558769484	chr5:44621172-44621173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149258318	chr5:44621196-44621197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538202776	chr5:44631842-44631843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554799973	chr5:44631907-44631908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574184006	chr5:44631908-44631909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150845168	chr5:44631927-44631928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139376333	chr5:44631954-44631955	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
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

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:44619200-44620400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:44619800-44620200	Enhancers	HMEC	breast
3	chr5:44620200-44620600	Weak transcription	HMEC	breast
4	chr5:44620400-44620800	Enhancers	Hela-S3	cervix
5	chr5:44620400-44621000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:44620600-44621200	Enhancers	HMEC	breast
7	chr5:44631800-44633000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:44635200-44635800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr5:44638200-44638800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr5:44638200-44638800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr5:44638400-44638800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:44638600-44638800	Bivalent Enhancer	Fetal Heart	heart
13	chr5:44638600-44639000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr5:44639400-44639800	Enhancers	Colon Smooth Muscle	Colon
15	chr5:44641000-44641400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr5:44641200-44641600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:44642200-44645400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:44644600-44645200	Bivalent Enhancer	Fetal Heart	heart
19	chr5:44645200-44646800	Enhancers	Fetal Heart	heart
20	chr5:44645400-44645600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:44645400-44645800	Enhancers	Brain Anterior Caudate	brain
22	chr5:44645400-44646400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:44645600-44646000	Enhancers	Stomach Smooth Muscle	stomach
24	chr5:44645600-44646600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:44645600-44654000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:44646000-44646400	Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr5:44646000-44646600	Enhancers	Fetal Lung	lung
28	chr5:44646000-44646600	Active TSS	Stomach Smooth Muscle	stomach
29	chr5:44646200-44646600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr5:44646200-44646600	Enhancers	Colon Smooth Muscle	Colon
31	chr5:44646200-44646800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:44646400-44649000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr5:44649000-44649600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr5:44654000-44654200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:44654000-44654800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:44654200-44656200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr5:44656200-44657000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:44657800-44662200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:44658400-44661000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:44659000-44661600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:44660400-44661000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:44661000-44665400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:44661600-44662000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:44662000-44662200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:44662200-44664400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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