Variant report

Variant	esv3385811
Chromosome Location	chr5:127814953-127816901
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 74 )

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	rs559584957	chr5:127814953-127814954	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528317973	chr5:127814961-127814962	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs998905	chr5:127815045-127815046	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571310135	chr5:127815065-127815066	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1561007	chr5:127815127-127815128	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs183602707	chr5:127815143-127815144	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375474559	chr5:127815196-127815197	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567685663	chr5:127815218-127815219	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187660048	chr5:127815232-127815233	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139278440	chr5:127815270-127815271	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190233128	chr5:127815299-127815300	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10042096	chr5:127815313-127815314	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs373390019	chr5:127815360-127815361	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559108724	chr5:127815379-127815380	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555093385	chr5:127815448-127815449	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4385259	chr5:127815453-127815454	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs143292107	chr5:127815490-127815491	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543128017	chr5:127815493-127815494	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144850752	chr5:127815519-127815520	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573327631	chr5:127815543-127815544	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs60497762	chr5:127815663-127815664	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6894199	chr5:127815669-127815670	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200921131	chr5:127815670-127815671	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs5001299	chr5:127815671-127815672	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs57230010	chr5:127815681-127815682	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542601227	chr5:127815685-127815686	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs71592873	chr5:127815701-127815702	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs71592874	chr5:127815717-127815718	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs5001295	chr5:127815722-127815723	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144630547	chr5:127815723-127815724	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570494085	chr5:127815779-127815780	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182507541	chr5:127815896-127815897	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528392200	chr5:127816037-127816038	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1529866	chr5:127816069-127816070	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs148602061	chr5:127816090-127816091	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142065097	chr5:127816096-127816097	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551123612	chr5:127816116-127816117	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567748351	chr5:127816151-127816152	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187221611	chr5:127816174-127816175	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1000488	chr5:127816181-127816182	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs77391436	chr5:127816185-127816186	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566705898	chr5:127816306-127816307	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111327995	chr5:127816322-127816323	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539326525	chr5:127816327-127816328	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75024450	chr5:127816334-127816335	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs80293800	chr5:127816336-127816337	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs74875246	chr5:127816338-127816339	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192602587	chr5:127816404-127816405	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370544269	chr5:127816413-127816414	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2017775	chr5:127816421-127816422	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:74)

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
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
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
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127773400-127830000	Weak transcription	NHEK	skin
2	chr5:127784000-127826800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:127796400-127826600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr5:127800400-127845600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:127800600-127816200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr5:127800800-127827000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:127803400-127839200	Weak transcription	Fetal Stomach	stomach
8	chr5:127806000-127818800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:127806400-127816000	Weak transcription	Fetal Muscle Leg	muscle
10	chr5:127806400-127830400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr5:127806400-127847000	Weak transcription	NHDF-Ad	bronchial
12	chr5:127806600-127827000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:127806600-127839600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:127806600-127839600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:127806600-127839600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:127806800-127822600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr5:127810800-127816200	Weak transcription	Placenta	Placenta
18	chr5:127810800-127839400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr5:127811000-127835200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:127811800-127815400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:127812400-127820800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:127813600-127818000	Weak transcription	Right Ventricle	heart
23	chr5:127813800-127816200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:127814000-127815400	Weak transcription	Left Ventricle	heart
25	chr5:127814400-127818200	Enhancers	Fetal Heart	heart
26	chr5:127815400-127815600	Enhancers	Left Ventricle	heart
27	chr5:127815400-127816600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:127816000-127817200	Enhancers	Fetal Muscle Leg	muscle
29	chr5:127816200-127816400	Enhancers	Fetal Muscle Trunk	muscle
30	chr5:127816200-127816400	Enhancers	Placenta	Placenta
31	chr5:127816200-127816800	Enhancers	Colon Smooth Muscle	Colon
32	chr5:127816200-127820400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:127816400-127836600	Weak transcription	Placenta	Placenta
34	chr5:127816600-127825000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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