Variant report

Variant	esv4972
Chromosome Location	chr8:110234569-110235229
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	chr8:110234924..110237282-chr8:110242100..110245071,2	K562	blood:
2	chr8:109930335..109931225-chr8:110235196..110236060,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253796	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143383617	chr8:110234580-110234581	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76321393	chr8:110234638-110234639	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4273834	chr8:110234642-110234643	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs553107959	chr8:110234651-110234652	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76450261	chr8:110234720-110234721	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545624320	chr8:110234872-110234873	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73700840	chr8:110234878-110234879	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs575924138	chr8:110234886-110234887	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140299845	chr8:110235015-110235016	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375762908	chr8:110235123-110235124	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113633986	chr8:110235156-110235157	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185970694	chr8:110235163-110235164	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530043085	chr8:110235178-110235179	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13266526	chr8:110235202-110235203	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs13268708	chr8:110235226-110235227	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
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
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
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Chronic myeloid leukemia	21384125	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110191400-110237400	Weak transcription	Left Ventricle	heart
2	chr8:110211200-110311600	Weak transcription	Right Ventricle	heart
3	chr8:110225800-110241800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr8:110230400-110241000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:110231000-110238600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr8:110231400-110236800	Weak transcription	Ovary	ovary
7	chr8:110231600-110235600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:110231800-110234800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:110231800-110235400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:110231800-110235400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:110231800-110237400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:110231800-110242200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:110233600-110239000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr8:110233800-110235800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr8:110233800-110236200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:110233800-110237400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr8:110234200-110237400	Weak transcription	Pancreas	Pancrea
18	chr8:110234200-110241200	Weak transcription	HUVEC	blood vessel
19	chr8:110234400-110235400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
20	chr8:110234400-110235800	Weak transcription	Brain Germinal Matrix	brain
21	chr8:110234400-110236000	Weak transcription	A549	lung
22	chr8:110234400-110237400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr8:110234600-110237400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr8:110234600-110240400	Weak transcription	HMEC	breast
25	chr8:110234800-110235000	ZNF genes & repeats	Liver	Liver
26	chr8:110234800-110238000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:110234800-110264200	Weak transcription	Primary B cells from peripheral blood	blood
28	chr8:110235000-110237400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr8:110235000-110239000	Weak transcription	Liver	Liver
30	chr8:110235000-110239800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:110235000-110240600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:110235000-110251000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr8:110235200-110237000	Weak transcription	Adipose Nuclei	Adipose
34	chr8:110235200-110241400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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