Variant report

Variant	esv3494840
Chromosome Location	chr10:44383256-44384183
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	chr10:44381279..44384529-chr10:44386530..44388753,3	K562	blood:
2	chr10:44379146..44381291-chr10:44381939..44383905,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550388552	chr10:44383263-44383264	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568557204	chr10:44383282-44383283	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115647004	chr10:44383340-44383341	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552552668	chr10:44383341-44383342	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs117503595	chr10:44383342-44383343	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187286274	chr10:44383343-44383344	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190874866	chr10:44383395-44383396	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558091092	chr10:44383407-44383408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576769841	chr10:44383461-44383462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143315956	chr10:44383480-44383481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374660475	chr10:44383499-44383500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562734934	chr10:44383506-44383507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs207470837	chr10:44383511-44383512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555258369	chr10:44383513-44383514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574533220	chr10:44383542-44383543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541971995	chr10:44383549-44383550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560401476	chr10:44383616-44383617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527737366	chr10:44383622-44383623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575426258	chr10:44383664-44383665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182151402	chr10:44383671-44383672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76610686	chr10:44383733-44383734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552611778	chr10:44383735-44383736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544434158	chr10:44383750-44383751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187222078	chr10:44383783-44383784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190059097	chr10:44383797-44383798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545176622	chr10:44383809-44383810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568671933	chr10:44383829-44383830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535692509	chr10:44383903-44383904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547923375	chr10:44383915-44383916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182671281	chr10:44383948-44383949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116047129	chr10:44384056-44384057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558179078	chr10:44384164-44384165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188542209	chr10:44384181-44384182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44360000-44392200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:44374400-44383400	Weak transcription	NHLF	lung
3	chr10:44375800-44387400	Weak transcription	Left Ventricle	heart
4	chr10:44377600-44387600	Weak transcription	Right Atrium	heart
5	chr10:44377800-44383800	Weak transcription	HSMMtube	muscle
6	chr10:44378000-44383800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr10:44378200-44387000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr10:44380400-44386800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr10:44381200-44384600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr10:44382400-44384400	Weak transcription	Hela-S3	cervix
11	chr10:44382600-44389000	Enhancers	NHDF-Ad	bronchial
12	chr10:44383200-44383400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr10:44383200-44385200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr10:44383200-44388800	Enhancers	Osteobl	bone
15	chr10:44383400-44384800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr10:44383400-44388600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr10:44383400-44388800	Enhancers	NHLF	lung
18	chr10:44383400-44389000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr10:44383800-44384600	Enhancers	HSMMtube	muscle
20	chr10:44383800-44388600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr10:44383800-44388800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr10:44384000-44386000	Enhancers	HSMM	muscle

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