Variant report

Variant	esv3352517
Chromosome Location	chr8:108356534-108356953
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	chr8:108346938..108349858-chr8:108355674..108360055,5	K562	blood:

Variant related genes	Relation type
ENSG00000154188	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534824235	chr8:108356542-108356543	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs187230625	chr8:108356547-108356548	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs569877320	chr8:108356606-108356607	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs59741166	chr8:108356660-108356661	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs17369077	chr8:108356723-108356724	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs572626693	chr8:108356766-108356767	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs535360793	chr8:108356807-108356808	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs72672542	chr8:108356850-108356851	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs576793229	chr8:108356865-108356866	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs34772308	chr8:108356900-108356901	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs562576794	chr8:108356912-108356913	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs545866654	chr8:108356918-108356919	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs576042758	chr8:108356919-108356920	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
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
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108333600-108368800	Weak transcription	Fetal Kidney	kidney
2	chr8:108337800-108360200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:108345200-108356600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:108345200-108393200	Weak transcription	Aorta	Aorta
5	chr8:108345600-108365600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:108345800-108357800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:108347800-108358600	Weak transcription	Adipose Nuclei	Adipose
8	chr8:108351200-108365600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:108351600-108358800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:108351600-108360600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr8:108352400-108356800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr8:108352400-108357000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr8:108352400-108362000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr8:108352400-108379000	Weak transcription	Psoas Muscle	Psoas
15	chr8:108353000-108358600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr8:108353400-108358800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr8:108353600-108358600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr8:108354400-108358800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:108355000-108357400	Enhancers	K562	blood
20	chr8:108355200-108358400	Enhancers	Primary hematopoietic stem cells	blood
21	chr8:108355800-108356600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:108355800-108359200	Weak transcription	Left Ventricle	heart
23	chr8:108356000-108357000	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr8:108356000-108358400	Weak transcription	Osteobl	bone
25	chr8:108356400-108356800	Enhancers	Fetal Lung	lung
26	chr8:108356400-108357000	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr8:108356400-108357400	Enhancers	Dnd41	blood
28	chr8:108356600-108356800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:108356600-108357200	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr8:108356600-108357400	Enhancers	Primary B cells from cord blood	blood
31	chr8:108356600-108357600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:108356800-108357000	Genic enhancers	Fetal Lung	lung
33	chr8:108356800-108357200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:108356800-108357200	Enhancers	Skeletal Muscle Male	skeletal muscle

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