Variant report

Variant	esv3449225
Chromosome Location	chr10:5617151-5617447
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:5614636..5617261-chr10:5635762..5637348,3	K562	blood:
2	chr10:5588926..5596967-chr10:5614767..5621599,13	MCF-7	breast:
3	chr10:5616258..5618078-chr10:5623406..5625241,2	K562	blood:
4	chr10:5616972..5619862-chr10:5631106..5633140,2	K562	blood:
5	chr10:5504077..5506564-chr10:5616336..5618283,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77710279	chr10:5617206-5617207	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs33934827	chr10:5617207-5617208	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs72507168	chr10:5617208-5617209	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs397733506	chr10:5617209-5617210	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201033918	chr10:5617210-5617211	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557724749	chr10:5617243-5617244	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573038123	chr10:5617245-5617246	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116570967	chr10:5617256-5617257	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558865432	chr10:5617325-5617326	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552923227	chr10:5617389-5617390	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190675704	chr10:5617398-5617399	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373253795	chr10:5617407-5617408	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4076513	chr10:5617417-5617418	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs575403230	chr10:5617428-5617429	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs72781960	chr10:5617436-5617437	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564055867	chr10:5617446-5617447	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
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
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Ovarian cancer	22355333	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5609000-5617200	Weak transcription	NHDF-Ad	bronchial
2	chr10:5612600-5617600	Enhancers	Liver	Liver
3	chr10:5612800-5619400	Enhancers	Fetal Intestine Large	intestine
4	chr10:5613200-5617200	Enhancers	Fetal Intestine Small	intestine
5	chr10:5613800-5621400	Weak transcription	Stomach Mucosa	stomach
6	chr10:5614000-5619200	Enhancers	HMEC	breast
7	chr10:5614200-5617200	Weak transcription	Small Intestine	intestine
8	chr10:5614200-5617800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr10:5614200-5618400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr10:5614200-5619200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr10:5614600-5618800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr10:5614800-5617200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr10:5615000-5618000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr10:5615600-5617800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr10:5615600-5617800	Enhancers	HSMM	muscle
16	chr10:5615600-5619000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:5615600-5619000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr10:5615600-5619000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr10:5615600-5619000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr10:5615600-5619600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr10:5615800-5617400	Enhancers	HSMMtube	muscle
22	chr10:5615800-5618000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr10:5615800-5618000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr10:5615800-5618200	Enhancers	Ovary	ovary
25	chr10:5615800-5619000	Enhancers	Fetal Muscle Leg	muscle
26	chr10:5616000-5617200	Weak transcription	Fetal Kidney	kidney
27	chr10:5616000-5617400	Enhancers	Psoas Muscle	Psoas
28	chr10:5616000-5617600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr10:5616000-5617800	Enhancers	Fetal Muscle Trunk	muscle
30	chr10:5616000-5618000	Enhancers	Duodenum Mucosa	Duodenum
31	chr10:5616000-5618200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr10:5616000-5618400	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr10:5616000-5618600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr10:5616000-5619400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr10:5616200-5617200	Weak transcription	NH-A	brain
36	chr10:5616200-5617400	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr10:5616200-5617400	Flanking Active TSS	HepG2	liver
38	chr10:5616200-5617800	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr10:5616200-5621800	Weak transcription	Right Atrium	heart
40	chr10:5616400-5617800	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr10:5616400-5619000	Enhancers	Placenta	Placenta
42	chr10:5616600-5617200	Enhancers	Colonic Mucosa	Colon
43	chr10:5616600-5617200	Flanking Active TSS	Rectal Smooth Muscle	rectum
44	chr10:5616600-5617200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr10:5616600-5617600	Weak transcription	NHEK	skin
46	chr10:5616600-5619200	Enhancers	Esophagus	oesophagus
47	chr10:5616800-5617400	Enhancers	Stomach Smooth Muscle	stomach
48	chr10:5616800-5618800	Enhancers	A549	lung
49	chr10:5617000-5617200	Enhancers	Gastric	stomach
50	chr10:5617000-5617200	Enhancers	Right Ventricle	heart

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