Variant report

Variant	esv1817780
Chromosome Location	chr8:111694657-111711197
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:43241796..43242729-chr8:111709968..111710717,2	MCF-7	breast:
2	chr8:111689286..111692174-chr8:111701872..111704181,2	MCF-7	breast:
3	chr8:111702766..111704836-chr8:111705809..111708776,2	MCF-7	breast:
4	chr8:111702766..111704836-chr8:111705809..111708776,2	MCF-7	breast:
5	chr8:111705966..111708208-chr8:111719733..111721854,2	MCF-7	breast:

Extended variants
information (count: 626 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:626 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2351320	chr8:111694657-111694658	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs151028458	chr8:111694683-111694684	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559510250	chr8:111694781-111694782	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114106744	chr8:111694818-111694819	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527422656	chr8:111694840-111694841	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547512256	chr8:111694908-111694909	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570501846	chr8:111694919-111694920	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73326197	chr8:111694921-111694922	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561286068	chr8:111694949-111694950	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549749482	chr8:111694982-111694983	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187782717	chr8:111695004-111695005	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527732815	chr8:111695011-111695012	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536109501	chr8:111695070-111695071	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191434855	chr8:111695116-111695117	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541308400	chr8:111695120-111695121	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183631555	chr8:111695123-111695124	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35082791	chr8:111695150-111695151	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572581389	chr8:111695153-111695154	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534838743	chr8:111695238-111695239	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557822781	chr8:111695272-111695273	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188240532	chr8:111695334-111695335	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150080633	chr8:111695343-111695344	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556909190	chr8:111695444-111695445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2220823	chr8:111695467-111695468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs58484491	chr8:111695475-111695476	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs561780942	chr8:111695559-111695560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527470653	chr8:111695586-111695587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541184460	chr8:111695614-111695615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564171278	chr8:111695673-111695674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192794584	chr8:111695709-111695710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533029539	chr8:111695727-111695728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138953943	chr8:111695764-111695765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149440896	chr8:111695777-111695778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529590209	chr8:111695801-111695802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560931211	chr8:111695823-111695824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549650715	chr8:111695825-111695826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530065138	chr8:111695831-111695832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113562402	chr8:111695902-111695903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372386970	chr8:111695918-111695919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377007278	chr8:111695929-111695930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35711400	chr8:111695970-111695971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534900356	chr8:111696007-111696008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557884344	chr8:111696028-111696029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184797079	chr8:111696047-111696048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190114778	chr8:111696057-111696058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs80133614	chr8:111696082-111696083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181668933	chr8:111696130-111696131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541799270	chr8:111696175-111696176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201354628	chr8:111696255-111696256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138983056	chr8:111696257-111696258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	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
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
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:111694600-111695400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:111694800-111695400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:111695400-111696600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:111695400-111697400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:111696600-111697800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:111696800-111698400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:111697400-111697800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:111697400-111697800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr8:111697400-111698000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:111697400-111698200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:111697600-111698000	Enhancers	HMEC	breast
12	chr8:111697800-111699600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:111697800-111699800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr8:111698000-111699600	Weak transcription	HMEC	breast
15	chr8:111698200-111699600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:111699200-111699800	Enhancers	Fetal Intestine Small	intestine
17	chr8:111699600-111699800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:111699600-111700200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:111699600-111700200	Enhancers	HMEC	breast
20	chr8:111699800-111700400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr8:111699800-111700400	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr8:111699800-111704400	Weak transcription	Fetal Intestine Small	intestine
23	chr8:111702400-111703000	Enhancers	Pancreas	Pancrea
24	chr8:111702800-111703400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr8:111703400-111707600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr8:111704400-111705000	Enhancers	Fetal Intestine Small	intestine
27	chr8:111706200-111706400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:111706200-111709000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr8:111706400-111706600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:111706400-111707200	Enhancers	H9 Cell Line	embryonic stem cell
31	chr8:111706400-111707600	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr8:111706400-111708000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr8:111706400-111708200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:111706400-111708200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr8:111706600-111707200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:111706600-111708000	Enhancers	H1 Cell Line	embryonic stem cell
37	chr8:111706600-111708200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr8:111706600-111709000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:111706600-111709400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:111706600-111709600	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr8:111706800-111707200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr8:111706800-111708000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr8:111707000-111707200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:111707000-111708200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr8:111707200-111709400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:111707400-111708000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr8:111707600-111708000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr8:111707600-111708000	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr8:111707600-111708000	Enhancers	NH-A	brain
50	chr8:111707800-111708000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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