Variant report

Variant	esv9966
Chromosome Location	chr5:127895818-127904284
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:127896126..127898974-chr5:127902072..127903856,2	MCF-7	breast:
2	chr5:127896126..127898974-chr5:127902072..127903856,2	MCF-7	breast:
3	chr5:127881388..127883013-chr5:127901894..127903649,2	MCF-7	breast:

Extended variants
information (count: 300 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:300 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73348087	chr5:127895820-127895821	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs539422828	chr5:127895829-127895830	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs112439203	chr5:127895834-127895835	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs370530100	chr5:127895843-127895844	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs139392495	chr5:127895907-127895908	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs35358877	chr5:127895919-127895920	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs78155565	chr5:127895922-127895923	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
8	rs74656581	chr5:127895939-127895940	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs555643799	chr5:127896030-127896031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs61375240	chr5:127896052-127896053	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs557770734	chr5:127896077-127896078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571219679	chr5:127896095-127896096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76170067	chr5:127896149-127896150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs60976491	chr5:127896204-127896205	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs577953623	chr5:127896219-127896220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368736995	chr5:127896229-127896230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149963337	chr5:127896250-127896251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189589522	chr5:127896281-127896282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs180934659	chr5:127896313-127896314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368058383	chr5:127896377-127896378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs56766733	chr5:127896398-127896399	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs559635324	chr5:127896423-127896424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75379296	chr5:127896424-127896425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs199799957	chr5:127896428-127896429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547644287	chr5:127896449-127896450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570735070	chr5:127896472-127896473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145161685	chr5:127896581-127896582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs61358597	chr5:127896589-127896590	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs569645372	chr5:127896604-127896605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534211742	chr5:127896702-127896703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535159149	chr5:127896713-127896714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555436765	chr5:127896716-127896717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7724383	chr5:127896722-127896723	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs534873879	chr5:127896723-127896724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7724233	chr5:127896727-127896728	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs116785423	chr5:127896754-127896755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544104500	chr5:127896833-127896834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563487403	chr5:127896867-127896868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573974303	chr5:127896904-127896905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186178553	chr5:127896977-127896978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369893215	chr5:127896994-127896995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs6595841	chr5:127897008-127897009	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs7728409	chr5:127897014-127897015	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs547585407	chr5:127897067-127897068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112113175	chr5:127897068-127897069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149140927	chr5:127897070-127897071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs56173634	chr5:127897250-127897251	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs550054388	chr5:127897266-127897267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569900522	chr5:127897300-127897301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13159754	chr5:127897301-127897302	Weak transcription	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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127895000-127896000	Active TSS	A549	lung
2	chr5:127895000-127896000	Enhancers	NHEK	skin
3	chr5:127895000-127896200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:127895200-127896000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr5:127895200-127896000	Enhancers	Hela-S3	cervix
6	chr5:127895600-127896000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:127895600-127897000	Enhancers	Placenta	Placenta
8	chr5:127896000-127896200	Enhancers	Placenta Amnion	Placenta Amnion
9	chr5:127897000-127901400	Weak transcription	Placenta	Placenta
10	chr5:127897800-127898000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:127898400-127898600	Enhancers	Placenta Amnion	Placenta Amnion
12	chr5:127898600-127901600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr5:127899000-127899400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr5:127899200-127900200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:127899400-127899800	Enhancers	Fetal Heart	heart
16	chr5:127900200-127901600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:127901200-127902800	Enhancers	A549	lung
18	chr5:127901400-127904000	Enhancers	Placenta	Placenta
19	chr5:127901600-127901800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:127901600-127901800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:127901600-127902400	Enhancers	Placenta Amnion	Placenta Amnion
22	chr5:127901600-127903600	Enhancers	Hela-S3	cervix
23	chr5:127901800-127902200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:127901800-127902800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:127902000-127902600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:127902200-127903000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:127902400-127902600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:127902400-127902600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:127902400-127903200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr5:127902600-127903600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:127902600-127907200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:127902600-127907400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:127902800-127903200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:127902800-127907800	Weak transcription	A549	lung
35	chr5:127903000-127903400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr5:127903200-127903800	Enhancers	Placenta Amnion	Placenta Amnion
37	chr5:127903400-127904200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr5:127903600-127904200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:127903600-127904200	Enhancers	NHEK	skin
40	chr5:127903800-127908800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr5:127904000-127908800	Weak transcription	Placenta	Placenta
42	chr5:127904200-127907200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:127904200-127907800	Weak transcription	NHEK	skin

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