Variant report

Variant	esv2757127
Chromosome Location	chr5:103939674-103982114
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:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:103955211..103956753-chr5:103960969..103962805,2	MCF-7	breast:
2	chr5:103959799..103963456-chr5:103964708..103968737,3	MCF-7	breast:
3	chr5:103950660..103952781-chr5:103982477..103984816,2	MCF-7	breast:
4	chr5:103982040..103982621-chr5:104952113..104952873,2	MCF-7	breast:
5	chr5:103955211..103956753-chr5:103960969..103962805,2	MCF-7	breast:
6	chr5:103959799..103963456-chr5:103964708..103968737,3	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUDT12-5	chr5:103966088-103966357	ENSG00000251574
2	lnc-NUDT12-5	chr5:103966237-103966357	ENSG00000251574

No data

Extended variants
information (count: 539 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:539 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190046833	chr5:103941631-103941632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182351728	chr5:103941751-103941752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200610076	chr5:103941752-103941753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185966555	chr5:103941764-103941765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2018142	chr5:103941793-103941794	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs190868419	chr5:103941868-103941869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564563240	chr5:103941874-103941875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532331787	chr5:103941887-103941888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574948749	chr5:103941959-103941960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564934250	chr5:103941978-103941979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139220488	chr5:103942030-103942031	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs202203852	chr5:103942052-103942053	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs143985568	chr5:103942056-103942057	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs112897747	chr5:103942060-103942061	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs199893235	chr5:103942061-103942062	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs398093625	chr5:103942069-103942070	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs543912932	chr5:103942076-103942077	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs183943095	chr5:103942123-103942124	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs560691623	chr5:103942158-103942159	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs530313101	chr5:103942179-103942180	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs541304765	chr5:103942345-103942346	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs528457137	chr5:103942378-103942379	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs73775457	chr5:103942379-103942380	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs73211037	chr5:103942386-103942387	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs559590168	chr5:103942393-103942394	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs552546629	chr5:103942396-103942397	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs532715675	chr5:103942397-103942398	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs142395629	chr5:103942399-103942400	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs569282341	chr5:103942401-103942402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370853827	chr5:103942439-103942440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548725360	chr5:103942475-103942476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560825530	chr5:103942476-103942477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116359890	chr5:103942483-103942484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548695468	chr5:103942500-103942501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs168829	chr5:103942502-103942503	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs188935199	chr5:103942504-103942505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192266813	chr5:103942508-103942509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147937995	chr5:103942527-103942528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141621250	chr5:103942543-103942544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77139975	chr5:103942553-103942554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371491756	chr5:103942563-103942564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571244021	chr5:103942570-103942571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78420490	chr5:103942571-103942572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182969714	chr5:103942735-103942736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574463579	chr5:103942739-103942740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs79454112	chr5:103942786-103942787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569170794	chr5:103942851-103942852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532799255	chr5:103942862-103942863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546509122	chr5:103942876-103942877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116731860	chr5:103942902-103942903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
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
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Obesity	20622171	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:103941600-103942600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:103941800-103942000	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr5:103941800-103942400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:103942000-103942400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:103942000-103942400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr5:103942000-103942600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:103942000-103942600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr5:103942000-103942600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr5:103942000-103943200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr5:103942400-103942600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr5:103942400-103946800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:103942600-103946800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr5:103943200-103946800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr5:103945800-103946000	Enhancers	Fetal Brain Male	brain
15	chr5:103945800-103946200	Enhancers	Fetal Lung	lung
16	chr5:103946200-103946600	Weak transcription	Fetal Lung	lung
17	chr5:103946200-103947400	Weak transcription	Fetal Brain Male	brain
18	chr5:103946400-103947600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:103946400-103948000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr5:103946600-103946800	Enhancers	Fetal Brain Female	brain
21	chr5:103946600-103947800	Enhancers	Fetal Lung	lung
22	chr5:103946600-103948000	Enhancers	Brain Germinal Matrix	brain
23	chr5:103946800-103947200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr5:103946800-103947200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr5:103946800-103947200	Flanking Active TSS	Fetal Brain Female	brain
26	chr5:103946800-103947400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr5:103946800-103947400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:103946800-103947600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr5:103947000-103947200	Enhancers	Brain Substantia Nigra	brain
30	chr5:103947000-103947400	Enhancers	Brain Anterior Caudate	brain
31	chr5:103947000-103947400	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr5:103947200-103948000	Enhancers	Fetal Brain Female	brain
33	chr5:103947400-103947800	Enhancers	Fetal Brain Male	brain
34	chr5:103947800-103948000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:103954200-103955400	Enhancers	Colon Smooth Muscle	Colon
36	chr5:103954400-103955400	Enhancers	Rectal Smooth Muscle	rectum
37	chr5:103964800-103965200	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr5:103970600-103971000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:103977600-103978400	Enhancers	Colon Smooth Muscle	Colon
40	chr5:103978400-103978800	Weak transcription	Colon Smooth Muscle	Colon
41	chr5:103978800-103979600	Enhancers	Colon Smooth Muscle	Colon
42	chr5:103979000-103979200	Enhancers	Rectal Smooth Muscle	rectum
43	chr5:103979000-103979400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:103979200-103981800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr5:103979400-103985400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:103979600-103980000	Weak transcription	Colon Smooth Muscle	Colon
47	chr5:103980000-103982600	Enhancers	Colon Smooth Muscle	Colon
48	chr5:103981400-103981600	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr5:103981800-103982000	Enhancers	Rectal Smooth Muscle	rectum
50	chr5:103982000-103982400	Weak transcription	Rectal Smooth Muscle	rectum

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