Variant report

Variant	esv3402438
Chromosome Location	chr5:112477690-112478501
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112476798..112478381-chr5:112478430..112480202,2	MCF-7	breast:
2	chr5:112476798..112478381-chr5:112478430..112480202,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530307564	chr5:112477701-112477702	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547658505	chr5:112477716-112477717	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182455392	chr5:112477772-112477773	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2044237	chr5:112477794-112477795	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs530488555	chr5:112477800-112477801	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573053751	chr5:112477820-112477821	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150612785	chr5:112477827-112477828	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570330854	chr5:112477883-112477884	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115525205	chr5:112477896-112477897	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546482243	chr5:112477905-112477906	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369403886	chr5:112477909-112477910	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567976466	chr5:112477946-112477947	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139815926	chr5:112477947-112477948	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10066096	chr5:112477989-112477990	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575408146	chr5:112478002-112478003	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537131545	chr5:112478008-112478009	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377367781	chr5:112478014-112478015	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11241194	chr5:112478038-112478039	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs149793508	chr5:112478048-112478049	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186777048	chr5:112478052-112478053	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559792524	chr5:112478055-112478056	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs56016757	chr5:112478087-112478088	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575158156	chr5:112478106-112478107	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115059560	chr5:112478157-112478158	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375547674	chr5:112478169-112478170	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370667872	chr5:112478300-112478301	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560361894	chr5:112478393-112478394	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs17135341	chr5:112478397-112478398	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs532186630	chr5:112478417-112478418	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546872150	chr5:112478433-112478434	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528185863	chr5:112478440-112478441	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376247956	chr5:112478475-112478476	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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112451000-112478800	Weak transcription	Aorta	Aorta
2	chr5:112467400-112493200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:112470200-112491000	Weak transcription	Fetal Kidney	kidney
4	chr5:112470600-112482000	Weak transcription	Fetal Heart	heart
5	chr5:112474800-112482400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr5:112475600-112479200	Strong transcription	Liver	Liver
7	chr5:112475800-112479600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:112476200-112478400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:112476200-112478400	Enhancers	NHDF-Ad	bronchial
10	chr5:112476200-112479400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr5:112476400-112478000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr5:112476400-112478000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr5:112476400-112478000	Enhancers	Left Ventricle	heart
14	chr5:112476400-112478200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:112476400-112478200	Enhancers	HSMMtube	muscle
16	chr5:112476400-112478600	Enhancers	Osteobl	bone
17	chr5:112476600-112477800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:112476600-112478000	Enhancers	Brain Hippocampus Middle	brain
19	chr5:112476600-112478000	Enhancers	NH-A	brain
20	chr5:112476600-112478600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:112476600-112478600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:112476600-112478800	Enhancers	HMEC	breast
23	chr5:112476600-112478800	Genic enhancers	NHEK	skin
24	chr5:112476800-112478000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr5:112476800-112478400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr5:112476800-112478800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr5:112476800-112478800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:112476800-112478800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr5:112476800-112479800	Weak transcription	Right Ventricle	heart
30	chr5:112477000-112477800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr5:112477000-112478600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:112477000-112483200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr5:112477200-112483200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr5:112477200-112485400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:112477400-112477800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:112477400-112478000	Weak transcription	Esophagus	oesophagus
37	chr5:112477400-112478600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:112477400-112478600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:112477400-112481400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:112477400-112482000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr5:112477400-112482400	Weak transcription	Adipose Nuclei	Adipose
42	chr5:112477400-112482600	Weak transcription	NHLF	lung
43	chr5:112477400-112486600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr5:112477400-112486600	Weak transcription	Right Atrium	heart
45	chr5:112477400-112489200	Weak transcription	Fetal Muscle Leg	muscle
46	chr5:112477400-112500600	Weak transcription	Fetal Stomach	stomach
47	chr5:112477600-112478400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr5:112477600-112478800	Strong transcription	Ovary	ovary
49	chr5:112477600-112481200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:112477600-112482600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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