Variant report

Variant	esv2009118
Chromosome Location	chr8:92089472-92089474
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:91657419..91658992-chr8:92088959..92091261,2	MCF-7	breast:
2	chr8:91997697..92000488-chr8:92087544..92090273,2	K562	blood:
3	chr8:92002278..92004909-chr8:92087605..92089894,3	MCF-7	breast:
4	chr8:92035689..92037323-chr8:92087716..92090015,2	K562	blood:
5	chr8:92004208..92005014-chr8:92088692..92089523,2	MCF-7	breast:
6	chr8:92031862..92034841-chr8:92087690..92089532,2	K562	blood:
7	chr8:92003078..92003983-chr8:92088766..92089714,4	MCF-7	breast:
8	chr8:92003130..92005188-chr8:92088388..92090490,2	MCF-7	breast:
9	chr8:92002857..92004096-chr8:92088435..92089787,15	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000246792	chromatin interactions
ENSG00000180694	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 109 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376699770	chr8:92089473-92089474	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

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
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
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
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:92083000-92147800	Weak transcription	Spleen	Spleen
2	chr8:92083200-92094600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:92083200-92095600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:92083200-92113200	Weak transcription	Esophagus	oesophagus
5	chr8:92083400-92090400	Weak transcription	Ovary	ovary
6	chr8:92083400-92091000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:92083400-92094600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr8:92083400-92103600	Weak transcription	Aorta	Aorta
9	chr8:92083400-92103600	Weak transcription	Lung	lung
10	chr8:92083400-92124400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:92083600-92090200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:92083600-92090400	Weak transcription	Brain Angular Gyrus	brain
13	chr8:92083600-92090400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr8:92083600-92090400	Weak transcription	HSMMtube	muscle
15	chr8:92083600-92090600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:92083600-92091600	Weak transcription	Right Ventricle	heart
17	chr8:92083600-92092400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr8:92083600-92093600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr8:92083600-92094600	Weak transcription	Fetal Intestine Small	intestine
20	chr8:92083600-92094600	Weak transcription	Fetal Stomach	stomach
21	chr8:92083600-92103600	Weak transcription	Gastric	stomach
22	chr8:92083600-92109800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr8:92083600-92112000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:92083600-92113000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr8:92083600-92114800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr8:92083600-92150800	Weak transcription	Pancreas	Pancrea
27	chr8:92083800-92090600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr8:92083800-92094400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr8:92083800-92103400	Weak transcription	Colonic Mucosa	Colon
30	chr8:92084000-92089800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:92084000-92090600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr8:92084000-92091800	Weak transcription	Psoas Muscle	Psoas
33	chr8:92084000-92093600	Strong transcription	Placenta	Placenta
34	chr8:92084000-92097400	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr8:92084000-92097800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr8:92084000-92098600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr8:92084000-92103600	Strong transcription	HSMM	muscle
38	chr8:92084000-92104000	Weak transcription	Thymus	Thymus
39	chr8:92084000-92107600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:92084000-92124600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr8:92084200-92090400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr8:92084200-92090600	Weak transcription	Brain Substantia Nigra	brain
43	chr8:92084200-92098400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr8:92084200-92104800	Strong transcription	Primary B cells from peripheral blood	blood
45	chr8:92084200-92111400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:92084400-92092600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:92084400-92095200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr8:92084400-92097600	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr8:92084600-92093400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:92084600-92096800	Strong transcription	K562	blood

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