Variant report

Variant	esv14899
Chromosome Location	chr8:107535827-107547049
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:107526277..107528354-chr8:107534344..107536795,2	K562	blood:
2	chr8:107535499..107537915-chr8:107541747..107543491,2	K562	blood:
3	chr8:107543545..107547421-chr8:107549613..107551996,3	K562	blood:
4	chr8:107531075..107533579-chr8:107536620..107539243,2	K562	blood:
5	chr8:107535499..107537915-chr8:107541747..107543491,2	K562	blood:

Extended variants
information (count: 387 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:387 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112344526	chr8:107535897-107535898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113714389	chr8:107535915-107535916	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs180961553	chr8:107535926-107535927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532099818	chr8:107535947-107535948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34364900	chr8:107536005-107536006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572279889	chr8:107536006-107536007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs398009249	chr8:107536020-107536021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546004638	chr8:107536025-107536026	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558366363	chr8:107536026-107536027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576439478	chr8:107536081-107536082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139338001	chr8:107536083-107536084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367555777	chr8:107536127-107536128	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78522605	chr8:107536128-107536129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529308372	chr8:107536147-107536148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144090684	chr8:107536153-107536154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575230762	chr8:107536196-107536197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185984780	chr8:107536197-107536198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551578893	chr8:107536219-107536220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6992639	chr8:107536226-107536227	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs139620853	chr8:107536239-107536240	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549074054	chr8:107536240-107536241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372685186	chr8:107536255-107536256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565716437	chr8:107536295-107536296	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567107697	chr8:107536307-107536308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534340227	chr8:107536310-107536311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149732596	chr8:107536346-107536347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190670219	chr8:107536426-107536427	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369896361	chr8:107536436-107536437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534702590	chr8:107536449-107536450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539773450	chr8:107536463-107536464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560824400	chr8:107536471-107536472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184108482	chr8:107536475-107536476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78598320	chr8:107536640-107536641	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75597364	chr8:107536659-107536660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114247581	chr8:107536667-107536668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75429008	chr8:107536763-107536764	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541420442	chr8:107536779-107536780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561100466	chr8:107536789-107536790	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145464646	chr8:107536796-107536797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141084380	chr8:107536798-107536799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146962276	chr8:107536851-107536852	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563295845	chr8:107536903-107536904	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188610395	chr8:107536904-107536905	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191880636	chr8:107536918-107536919	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536866864	chr8:107536946-107536947	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147582828	chr8:107536947-107536948	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142573055	chr8:107536986-107536987	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76682788	chr8:107536995-107536996	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs10096978	chr8:107537009-107537010	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs202044039	chr8:107537019-107537020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
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
Gastric cancer	17908304	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107512400-107620200	Weak transcription	Aorta	Aorta
2	chr8:107516800-107536200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:107526800-107551000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:107526800-107568400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr8:107527000-107537200	Weak transcription	Brain Angular Gyrus	brain
6	chr8:107530400-107539000	Weak transcription	Primary T cells from cord blood	blood
7	chr8:107530400-107572800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:107530800-107537400	Weak transcription	Osteobl	bone
9	chr8:107534000-107536800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:107534800-107537400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:107536800-107537000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr8:107537200-107537400	Enhancers	Brain Angular Gyrus	brain
13	chr8:107537200-107537400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:107537400-107537600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:107537400-107537600	Bivalent Enhancer	Stomach Mucosa	stomach
16	chr8:107537400-107551200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:107540200-107541200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr8:107540600-107541000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr8:107540600-107541000	Enhancers	HUES64 Cell Line	embryonic stem cell

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