Variant report

Variant	nsv882537
Chromosome Location	chr5:103833944-103925210
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:103876372..103877993-chr5:103878021..103880311,2	MCF-7	breast:
2	chr5:103875480..103877892-chr5:103901637..103904578,2	MCF-7	breast:
3	chr5:103876372..103877993-chr5:103878021..103880311,2	MCF-7	breast:
4	chr10:123096692..123097195-chr5:103919780..103920280,2	MCF-7	breast:
5	chr5:103853669..103855650-chr5:103858863..103860532,2	MCF-7	breast:
6	chr5:103897573..103899944-chr5:103901473..103904077,2	K562	blood:
7	chr5:103843512..103846064-chr5:104654970..104657716,2	K562	blood:
8	chr5:103897573..103899944-chr5:103901473..103904077,2	K562	blood:
9	chr5:103870028..103872324-chr5:103876211..103878199,2	MCF-7	breast:
10	chr5:103853669..103855650-chr5:103858863..103860532,2	MCF-7	breast:
11	chr3:75693392..75694000-chr5:103852101..103852601,2	MCF-7	breast:
12	chr5:103870028..103872324-chr5:103876211..103878199,2	MCF-7	breast:
13	chr5:103875480..103877892-chr5:103901637..103904578,2	MCF-7	breast:
14	chr5:103909538..103911101-chr5:103914099..103915788,2	K562	blood:
15	chr5:103909538..103911101-chr5:103914099..103915788,2	K562	blood:

No data

Extended variants
information (count: 1369 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1369 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4299708	chr5:103833944-103833945	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534739258	chr5:103833960-103833961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560428730	chr5:103834030-103834031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577051754	chr5:103834097-103834098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546022465	chr5:103834188-103834189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572324286	chr5:103834238-103834239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535397534	chr5:103834244-103834245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531496554	chr5:103834273-103834274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75372595	chr5:103834280-103834281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562138133	chr5:103834316-103834317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527717253	chr5:103834448-103834449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547459508	chr5:103834453-103834454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571165045	chr5:103834496-103834497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551921340	chr5:103834504-103834505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184698029	chr5:103834518-103834519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144774261	chr5:103834539-103834540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368252941	chr5:103834589-103834590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189067746	chr5:103834593-103834594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35323709	chr5:103834597-103834598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533746487	chr5:103847842-103847843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547747897	chr5:103847848-103847849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145277942	chr5:103847883-103847884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539693088	chr5:103847891-103847892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556327129	chr5:103847909-103847910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147221041	chr5:103847925-103847926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76959278	chr5:103847929-103847930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576116337	chr5:103847982-103847983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191975547	chr5:103848015-103848016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184202908	chr5:103848062-103848063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189701101	chr5:103848149-103848150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572138326	chr5:103848164-103848165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs367925219	chr5:103848207-103848208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73778048	chr5:103848212-103848213	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs577918355	chr5:103848236-103848237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs180944101	chr5:103848279-103848280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372522004	chr5:103848310-103848311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139544556	chr5:103848318-103848319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529437431	chr5:103848348-103848349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572082679	chr5:103848376-103848377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541937210	chr5:103848430-103848431	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs561612230	chr5:103848447-103848448	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs73778050	chr5:103848448-103848449	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs542699534	chr5:103848454-103848455	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs547414758	chr5:103848487-103848488	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs570416639	chr5:103848526-103848527	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs533275043	chr5:103848533-103848534	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs549774427	chr5:103848570-103848571	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs375492122	chr5:103848649-103848650	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs71588349	chr5:103848700-103848701	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs199784297	chr5:103848701-103848702	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:103829600-103834000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:103833600-103834000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:103834000-103834400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:103834000-103834400	Enhancers	HUVEC	blood vessel
5	chr5:103834200-103834600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:103847800-103848400	Enhancers	NH-A	brain
7	chr5:103847800-103849800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:103848200-103848400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:103848200-103848600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:103848200-103850000	Enhancers	HUVEC	blood vessel
11	chr5:103848200-103850000	Enhancers	Osteobl	bone
12	chr5:103848200-103850600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr5:103848400-103848600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:103848400-103849000	Flanking Active TSS	NH-A	brain
15	chr5:103848400-103849200	Enhancers	Colon Smooth Muscle	Colon
16	chr5:103848400-103849600	Enhancers	NHDF-Ad	bronchial
17	chr5:103848400-103850000	Enhancers	Rectal Smooth Muscle	rectum
18	chr5:103848400-103850200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr5:103848400-103850200	Enhancers	Hela-S3	cervix
20	chr5:103848400-103850600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr5:103848600-103848800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:103848600-103848800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:103848600-103849600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:103848600-103850200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:103848600-103850200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr5:103848800-103849200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:103848800-103849200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:103848800-103849800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr5:103848800-103850000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr5:103848800-103850200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr5:103849000-103850000	Enhancers	NH-A	brain
32	chr5:103849000-103850200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr5:103849000-103850200	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr5:103849200-103849600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:103849200-103850000	Enhancers	Fetal Intestine Large	intestine
36	chr5:103849200-103850200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:103849200-103850800	Enhancers	H1 Cell Line	embryonic stem cell
38	chr5:103849400-103850000	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr5:103849800-103850200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr5:103850200-103850800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr5:103850200-103851400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr5:103850800-103851800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr5:103850800-103852200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr5:103851600-103851800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr5:103851800-103852000	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr5:103852200-103852400	Enhancers	H1 Cell Line	embryonic stem cell
47	chr5:103862000-103862600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:103864600-103864800	Enhancers	Colon Smooth Muscle	Colon
49	chr5:103864800-103868800	Weak transcription	Colon Smooth Muscle	Colon
50	chr5:103866200-103866400	Enhancers	Rectal Smooth Muscle	rectum

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