Variant report

Variant	esv3428228
Chromosome Location	chr5:112481516-112482881
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7720866	chr5:112481572-112481573	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554556715	chr5:112481610-112481611	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs576208370	chr5:112481618-112481619	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs543721635	chr5:112481647-112481648	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs192535825	chr5:112481666-112481667	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs7720994	chr5:112481693-112481694	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs576661019	chr5:112481735-112481736	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs139925344	chr5:112481772-112481773	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs182885970	chr5:112481797-112481798	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs13190040	chr5:112481809-112481810	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs201934290	chr5:112481817-112481818	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs542610044	chr5:112481833-112481834	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs187475913	chr5:112481845-112481846	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs193272210	chr5:112481862-112481863	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs375274231	chr5:112481989-112481990	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs375092475	chr5:112481997-112481998	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs151269986	chr5:112481998-112481999	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs150363652	chr5:112481999-112482000	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs531879330	chr5:112482013-112482014	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550486980	chr5:112482022-112482023	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73778951	chr5:112482026-112482027	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs2416303	chr5:112482033-112482034	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs547504069	chr5:112482045-112482046	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565737697	chr5:112482046-112482047	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4634343	chr5:112482049-112482050	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs547847198	chr5:112482087-112482088	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs57297544	chr5:112482136-112482137	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536931011	chr5:112482144-112482145	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145601875	chr5:112482153-112482154	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576618616	chr5:112482161-112482162	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2416304	chr5:112482180-112482181	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs543484832	chr5:112482219-112482220	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184820537	chr5:112482233-112482234	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539759910	chr5:112482308-112482309	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147716373	chr5:112482311-112482312	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187622885	chr5:112482352-112482353	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112155895	chr5:112482365-112482366	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373572456	chr5:112482369-112482370	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377120450	chr5:112482414-112482415	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544127274	chr5:112482450-112482451	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141055908	chr5:112482456-112482457	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532862164	chr5:112482489-112482490	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547962197	chr5:112482504-112482505	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200517220	chr5:112482513-112482514	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75597873	chr5:112482561-112482562	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369156678	chr5:112482576-112482577	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7726679	chr5:112482649-112482650	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs553329353	chr5:112482664-112482665	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192152913	chr5:112482706-112482707	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574841417	chr5:112482723-112482724	Weak transcription Enhancers Genic enhancers Strong transcription	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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	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
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Sezary syndrome	18413736	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112467400-112493200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:112470200-112491000	Weak transcription	Fetal Kidney	kidney
3	chr5:112470600-112482000	Weak transcription	Fetal Heart	heart
4	chr5:112474800-112482400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr5:112477000-112483200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:112477200-112483200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:112477200-112485400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:112477400-112482000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:112477400-112482400	Weak transcription	Adipose Nuclei	Adipose
10	chr5:112477400-112482600	Weak transcription	NHLF	lung
11	chr5:112477400-112486600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:112477400-112486600	Weak transcription	Right Atrium	heart
13	chr5:112477400-112489200	Weak transcription	Fetal Muscle Leg	muscle
14	chr5:112477400-112500600	Weak transcription	Fetal Stomach	stomach
15	chr5:112477600-112482600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:112477600-112482800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:112477600-112482800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr5:112477600-112483000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr5:112477800-112482400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:112478000-112482400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr5:112478000-112483000	Weak transcription	Left Ventricle	heart
22	chr5:112478000-112485600	Weak transcription	Pancreas	Pancrea
23	chr5:112478000-112497000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr5:112478200-112482400	Weak transcription	HSMMtube	muscle
25	chr5:112478400-112482400	Weak transcription	NHDF-Ad	bronchial
26	chr5:112478400-112483000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr5:112478600-112481600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:112478600-112481600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:112478600-112481600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:112478600-112481800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:112478600-112482000	Weak transcription	Osteobl	bone
32	chr5:112478600-112483000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:112478800-112482000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:112478800-112483000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr5:112479200-112485200	Weak transcription	Liver	Liver
36	chr5:112479200-112490000	Weak transcription	Aorta	Aorta
37	chr5:112479400-112489600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr5:112479600-112482000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:112479800-112485600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr5:112480200-112481600	Enhancers	Ovary	ovary
41	chr5:112480400-112487200	Weak transcription	Right Ventricle	heart
42	chr5:112480600-112482000	Enhancers	HMEC	breast
43	chr5:112480600-112483600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:112480800-112481600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr5:112480800-112483200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:112481000-112483000	Weak transcription	Psoas Muscle	Psoas
47	chr5:112481200-112481800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr5:112481200-112482000	Flanking Active TSS	NHEK	skin
49	chr5:112481400-112482400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr5:112481400-112496000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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