Variant report

Variant	esv3383335
Chromosome Location	chr8:87373486-87375459
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:87373696..87376547-chr8:87378269..87380043,2	MCF-7	breast:
2	chr8:87365324..87368411-chr8:87373103..87375611,3	K562	blood:
3	chr8:87369363..87371894-chr8:87375149..87378273,3	MCF-7	breast:
4	chr8:87369968..87373352-chr8:87375250..87380185,4	MCF-7	breast:

Extended variants
information (count: 78 )
Associated
traits (count: 109 )

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	rs141343286	chr8:87373513-87373514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73688824	chr8:87373524-87373525	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs531487216	chr8:87373568-87373569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs56280479	chr8:87373578-87373579	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs182029168	chr8:87373588-87373589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533700195	chr8:87373598-87373599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150804969	chr8:87373672-87373673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79072349	chr8:87373886-87373887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539086493	chr8:87373900-87373901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200860048	chr8:87374058-87374059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555723788	chr8:87374067-87374068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575919998	chr8:87374069-87374070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538177054	chr8:87374124-87374125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376616908	chr8:87374192-87374193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34621826	chr8:87374204-87374205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs55754530	chr8:87374205-87374206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
17	rs58085374	chr8:87374207-87374208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540779687	chr8:87374209-87374210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186365387	chr8:87374218-87374219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190902037	chr8:87374220-87374221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs55941605	chr8:87374222-87374223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs55760719	chr8:87374224-87374225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs72263087	chr8:87374231-87374232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs56184674	chr8:87374232-87374233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35035316	chr8:87374236-87374237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200199791	chr8:87374237-87374238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555375198	chr8:87374248-87374249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558500381	chr8:87374266-87374267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577403432	chr8:87374268-87374269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566706217	chr8:87374276-87374277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372649535	chr8:87374280-87374281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377133105	chr8:87374286-87374287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201301754	chr8:87374292-87374293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72096724	chr8:87374293-87374294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs35467457	chr8:87374301-87374302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs57831569	chr8:87374302-87374303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs58359844	chr8:87374306-87374307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs56865538	chr8:87374312-87374313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs199872299	chr8:87374315-87374316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369362071	chr8:87374317-87374318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546249987	chr8:87374318-87374319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs60489811	chr8:87374326-87374327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531699415	chr8:87374328-87374329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562943959	chr8:87374388-87374389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530167654	chr8:87374393-87374394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34231831	chr8:87374430-87374431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs56924920	chr8:87374431-87374432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548197867	chr8:87374464-87374465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561972990	chr8:87374485-87374486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs6471295	chr8:87374570-87374571	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:109)

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
Autism	22495311	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
Acute lymphoblastic leukemia	22237106	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	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
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
Acute lymphoblastic leukemia	18458336	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
Epilepsy	20502679	CNVD
Autism	20841430	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Schizophrenia	19805367	CNVD
Prostate cancer	17016436	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87355800-87405600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:87356800-87403800	Weak transcription	Aorta	Aorta
3	chr8:87357000-87375600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:87357400-87403400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:87357600-87374600	Weak transcription	HUVEC	blood vessel
6	chr8:87357600-87382200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr8:87357800-87381000	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr8:87357800-87382000	Weak transcription	Placenta	Placenta
9	chr8:87357800-87383200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr8:87357800-87413600	Weak transcription	Pancreas	Pancrea
11	chr8:87359000-87383600	Weak transcription	Dnd41	blood
12	chr8:87362400-87378200	Weak transcription	Gastric	stomach
13	chr8:87363800-87393800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:87364000-87397400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:87366000-87398200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:87366800-87423800	Weak transcription	Colonic Mucosa	Colon
17	chr8:87367400-87375200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr8:87368000-87382600	Weak transcription	Brain Anterior Caudate	brain
19	chr8:87368200-87379600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:87368200-87384600	Weak transcription	Fetal Intestine Large	intestine
21	chr8:87368200-87386600	Weak transcription	Hela-S3	cervix
22	chr8:87368400-87381000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:87368600-87374600	Weak transcription	NHEK	skin
24	chr8:87368600-87375400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:87369000-87373800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr8:87369000-87378400	Weak transcription	Brain Angular Gyrus	brain
27	chr8:87369200-87384600	Weak transcription	Primary B cells from cord blood	blood
28	chr8:87369400-87375000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr8:87369400-87379200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr8:87369400-87379400	Weak transcription	Brain Hippocampus Middle	brain
31	chr8:87369400-87380800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr8:87369600-87384800	Weak transcription	A549	lung
33	chr8:87369800-87381800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr8:87370000-87384800	Weak transcription	Fetal Lung	lung
35	chr8:87370600-87373800	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr8:87370600-87380400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr8:87371000-87374200	Enhancers	Psoas Muscle	Psoas
38	chr8:87371000-87374800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr8:87371000-87381400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr8:87371000-87381400	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr8:87371400-87381600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:87371600-87381000	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr8:87372200-87373600	Enhancers	Primary T cells fromperipheralblood	blood
44	chr8:87372200-87375400	Enhancers	Liver	Liver
45	chr8:87372400-87373800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr8:87372400-87373800	Enhancers	HepG2	liver
47	chr8:87372400-87374200	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr8:87372400-87375800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr8:87372600-87373600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr8:87372600-87373600	Enhancers	Duodenum Mucosa	Duodenum

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