Variant report

Variant	esv3357563
Chromosome Location	chr8:99846837-99848644
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	chr8:99842115..99843872-chr8:99847802..99849376,2	MCF-7	breast:
2	chr8:99848239..99850661-chr8:99854990..99857357,2	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373081309	chr8:99846849-99846850	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs2922073	chr8:99846940-99846941	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs3019293	chr8:99846972-99846973	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs538986991	chr8:99846976-99846977	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs553656802	chr8:99847020-99847021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573794836	chr8:99847025-99847026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536114708	chr8:99847048-99847049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192528345	chr8:99847061-99847062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575629894	chr8:99847075-99847076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74696980	chr8:99847087-99847088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77336314	chr8:99847105-99847106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571838484	chr8:99847127-99847128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370601307	chr8:99847160-99847161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541144069	chr8:99847165-99847166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560448357	chr8:99847207-99847208	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs529502307	chr8:99847260-99847261	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs549367772	chr8:99847279-99847280	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs563234286	chr8:99847286-99847287	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs531719367	chr8:99847310-99847311	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs149269504	chr8:99847385-99847386	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs144468546	chr8:99847409-99847410	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs534251273	chr8:99847441-99847442	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs547878157	chr8:99847579-99847580	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs183637423	chr8:99847613-99847614	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs186857217	chr8:99847722-99847723	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs148397479	chr8:99847748-99847749	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs141807087	chr8:99847807-99847808	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs6985532	chr8:99847836-99847837	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs558103654	chr8:99847848-99847849	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs184665548	chr8:99847875-99847876	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs540731585	chr8:99847951-99847952	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs554654796	chr8:99848022-99848023	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565958956	chr8:99848028-99848029	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574140598	chr8:99848056-99848057	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543237779	chr8:99848073-99848074	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79903680	chr8:99848108-99848109	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532013285	chr8:99848118-99848119	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7817630	chr8:99848148-99848149	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs555109387	chr8:99848167-99848168	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201753119	chr8:99848187-99848188	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370674085	chr8:99848191-99848192	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527688287	chr8:99848198-99848199	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189989950	chr8:99848285-99848286	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567789215	chr8:99848286-99848287	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529834438	chr8:99848314-99848315	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549977496	chr8:99848371-99848372	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569537177	chr8:99848384-99848385	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192889794	chr8:99848398-99848399	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547770615	chr8:99848444-99848445	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs558439741	chr8:99848463-99848464	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Colorectal cancer	19455253	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99837800-99848600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr8:99838800-99847600	Weak transcription	Fetal Intestine Large	intestine
3	chr8:99838800-99862800	Weak transcription	Ovary	ovary
4	chr8:99844200-99848200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:99844600-99847600	Weak transcription	Fetal Intestine Small	intestine
6	chr8:99844600-99848200	Enhancers	HMEC	breast
7	chr8:99844800-99847000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:99844800-99847200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:99844800-99847200	Enhancers	Placenta Amnion	Placenta Amnion
10	chr8:99844800-99848600	Enhancers	Placenta	Placenta
11	chr8:99845000-99848200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:99845400-99847400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:99845800-99847400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:99846200-99847000	Enhancers	HSMM	muscle
15	chr8:99846200-99847600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:99846400-99847000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:99846400-99847200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:99846600-99847200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:99846600-99847200	Enhancers	HSMMtube	muscle
20	chr8:99846600-99847200	Enhancers	NHDF-Ad	bronchial
21	chr8:99846600-99847400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:99846600-99847600	Enhancers	Hela-S3	cervix
23	chr8:99846600-99847800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr8:99846800-99847000	Flanking Active TSS	NHEK	skin
25	chr8:99846800-99847200	Enhancers	A549	lung
26	chr8:99846800-99847200	Enhancers	Osteobl	bone
27	chr8:99846800-99847800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:99847000-99847200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:99847000-99847400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:99847000-99847400	Enhancers	NHEK	skin
31	chr8:99847200-99847400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:99847200-99847400	Weak transcription	HSMMtube	muscle
33	chr8:99847200-99847400	Weak transcription	NHDF-Ad	bronchial
34	chr8:99847200-99847600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:99847200-99847600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:99847200-99847600	Flanking Active TSS	A549	lung
37	chr8:99847200-99847800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr8:99847200-99857200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr8:99847400-99847600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:99847400-99847800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:99847400-99848000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:99847400-99848000	ZNF genes & repeats	HSMMtube	muscle
43	chr8:99847400-99848000	Flanking Active TSS	NHEK	skin
44	chr8:99847400-99848200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr8:99847400-99848800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:99847600-99847800	Enhancers	Duodenum Mucosa	Duodenum
47	chr8:99847600-99848000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr8:99847600-99848000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr8:99847600-99848000	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr8:99847600-99848000	Enhancers	A549	lung

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