Variant report

Variant	esv1850895
Chromosome Location	chr5:112479748-112481426
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:

Extended variants
information (count: 78 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547531996	chr5:112479799-112479800	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372235592	chr5:112479803-112479804	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116654415	chr5:112479887-112479888	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530260572	chr5:112479890-112479891	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2044238	chr5:112479902-112479903	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs543996587	chr5:112479908-112479909	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562489372	chr5:112479910-112479911	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577595830	chr5:112479972-112479973	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545319435	chr5:112479990-112479991	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185676195	chr5:112479991-112479992	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs13183116	chr5:112480002-112480003	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs189371576	chr5:112480042-112480043	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560950215	chr5:112480060-112480061	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2044239	chr5:112480073-112480074	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs142567159	chr5:112480077-112480078	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10519336	chr5:112480104-112480105	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs180919770	chr5:112480128-112480129	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185799265	chr5:112480155-112480156	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551647397	chr5:112480166-112480167	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs78965418	chr5:112480183-112480184	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534223096	chr5:112480191-112480192	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555900762	chr5:112480193-112480194	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113411493	chr5:112480208-112480209	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537925319	chr5:112480221-112480222	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192361720	chr5:112480224-112480225	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs78469214	chr5:112480262-112480263	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552763792	chr5:112480300-112480301	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548248137	chr5:112480311-112480312	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544982344	chr5:112480318-112480319	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574450427	chr5:112480321-112480322	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113539788	chr5:112480332-112480333	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560194969	chr5:112480350-112480351	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375827661	chr5:112480355-112480356	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374090161	chr5:112480365-112480366	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540568950	chr5:112480404-112480405	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114271615	chr5:112480470-112480471	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10463646	chr5:112480503-112480504	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs531432105	chr5:112480609-112480610	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575657058	chr5:112480614-112480615	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551048421	chr5:112480615-112480616	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546072565	chr5:112480648-112480649	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4705794	chr5:112480670-112480671	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs73778948	chr5:112480673-112480674	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs566549095	chr5:112480682-112480683	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149320478	chr5:112480786-112480787	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144250284	chr5:112480845-112480846	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541394895	chr5:112480865-112480866	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183150061	chr5:112480907-112480908	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567846444	chr5:112480908-112480909	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185975680	chr5:112480918-112480919	Weak transcription Strong transcription Enhancers	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	chr5:112467400-112493200	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	chr5:112476800-112479800	Weak transcription	Right Ventricle	heart
6	chr5:112477000-112483200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:112477200-112483200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:112477200-112485400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:112477400-112481400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:112477400-112482000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr5:112477400-112482400	Weak transcription	Adipose Nuclei	Adipose
12	chr5:112477400-112482600	Weak transcription	NHLF	lung
13	chr5:112477400-112486600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:112477400-112486600	Weak transcription	Right Atrium	heart
15	chr5:112477400-112489200	Weak transcription	Fetal Muscle Leg	muscle
16	chr5:112477400-112500600	Weak transcription	Fetal Stomach	stomach
17	chr5:112477600-112481200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:112477600-112482600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr5:112477600-112482800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:112477600-112482800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr5:112477600-112483000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr5:112477800-112482400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:112478000-112482400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr5:112478000-112483000	Weak transcription	Left Ventricle	heart
25	chr5:112478000-112485600	Weak transcription	Pancreas	Pancrea
26	chr5:112478000-112497000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr5:112478200-112480600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:112478200-112480800	Weak transcription	Esophagus	oesophagus
29	chr5:112478200-112482400	Weak transcription	HSMMtube	muscle
30	chr5:112478400-112480800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:112478400-112482400	Weak transcription	NHDF-Ad	bronchial
32	chr5:112478400-112483000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr5:112478600-112480800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:112478600-112481600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:112478600-112481600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr5:112478600-112481600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:112478600-112481800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:112478600-112482000	Weak transcription	Osteobl	bone
39	chr5:112478600-112483000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:112478800-112480200	Weak transcription	Ovary	ovary
41	chr5:112478800-112480600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:112478800-112480600	Weak transcription	HMEC	breast
43	chr5:112478800-112480600	Weak transcription	NHEK	skin
44	chr5:112478800-112482000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr5:112478800-112483000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr5:112479200-112485200	Weak transcription	Liver	Liver
47	chr5:112479200-112490000	Weak transcription	Aorta	Aorta
48	chr5:112479400-112479800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr5:112479400-112489600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr5:112479600-112481000	Weak transcription	Primary T cells from cord blood	blood

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