Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:23080355..23083056-chr10:23096446..23098590,2	K562	blood:

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538391138	chr10:23081025-23081026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554875973	chr10:23081049-23081050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12265739	chr10:23081075-23081076	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs147632001	chr10:23081172-23081173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140952047	chr10:23081179-23081180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112759982	chr10:23081193-23081194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546233210	chr10:23081199-23081200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556666785	chr10:23081213-23081214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576462256	chr10:23081229-23081230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544353723	chr10:23081244-23081245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:37)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:23080600-23081200	Enhancers	Brain Hippocampus Middle	brain
2	chr10:23080800-23081200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:23080800-23081200	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr10:23081000-23081400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr10:23081000-23081800	Enhancers	NHEK	skin
6	chr10:23081200-23092000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr10:23081200-23093000	Weak transcription	Brain Hippocampus Middle	brain

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