Variant report

Variant	esv3339152
Chromosome Location	chr10:61801420-61801770
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:61799790..61802033-chr9:14680041..14681542,2	MCF-7	breast:
2	chr10:61792166..61795045-chr10:61799901..61802727,2	K562	blood:
3	chr10:61384437..61387120-chr10:61801468..61804308,2	K562	blood:
4	chr10:61650190..61652371-chr10:61798781..61801501,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 60 )

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	rs547581742	chr10:61801429-61801430	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs565888832	chr10:61801521-61801522	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs4431977	chr10:61801523-61801524	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs554805454	chr10:61801525-61801526	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs543847689	chr10:61801530-61801531	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs570346664	chr10:61801549-61801550	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs10740004	chr10:61801614-61801615	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs10740005	chr10:61801623-61801624	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs576863508	chr10:61801630-61801631	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs10994162	chr10:61801708-61801709	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs34136224	chr10:61801717-61801718	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs137923302	chr10:61801720-61801721	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs10821662	chr10:61801739-61801740	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs114130603	chr10:61801750-61801751	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs563415247	chr10:61801753-61801754	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs530866852	chr10:61801769-61801770	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
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
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	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
Obesity	21956041	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Urothelial carcinoma	21177765	CNVD
abnormal development	18461090	CNVD
Medulloblastoma	16783165	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	20643615	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:61786400-61815000	Weak transcription	Left Ventricle	heart
2	chr10:61788800-61803600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr10:61789000-61819200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr10:61789200-61802800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr10:61789400-61807600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr10:61789600-61802800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr10:61789600-61827800	Weak transcription	Fetal Brain Female	brain
8	chr10:61790000-61803400	Weak transcription	Fetal Brain Male	brain
9	chr10:61790200-61835000	Weak transcription	Primary T cells from cord blood	blood
10	chr10:61791200-61803800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr10:61791200-61814200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr10:61791600-61828600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr10:61791800-61803400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr10:61791800-61815400	Weak transcription	Fetal Intestine Large	intestine
15	chr10:61791800-61829400	Weak transcription	Fetal Intestine Small	intestine
16	chr10:61791800-61849000	Weak transcription	Pancreas	Pancrea
17	chr10:61792000-61803000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr10:61792200-61883200	Weak transcription	Psoas Muscle	Psoas
19	chr10:61792600-61802800	Weak transcription	Brain Angular Gyrus	brain
20	chr10:61792600-61815000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr10:61792800-61802400	Weak transcription	Liver	Liver
22	chr10:61792800-61802800	Weak transcription	Brain Substantia Nigra	brain
23	chr10:61793000-61802400	Weak transcription	Brain Hippocampus Middle	brain
24	chr10:61793200-61819000	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr10:61794400-61803400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr10:61795600-61804000	Strong transcription	Placenta	Placenta
27	chr10:61795800-61802400	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr10:61796000-61834800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr10:61796400-61801600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr10:61797000-61803200	Weak transcription	HSMMtube	muscle
31	chr10:61797200-61819000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr10:61797200-61828200	Weak transcription	Fetal Muscle Leg	muscle
33	chr10:61797600-61827600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr10:61797800-61803600	Weak transcription	NHDF-Ad	bronchial
35	chr10:61798200-61844400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr10:61799000-61801600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr10:61799200-61803200	Weak transcription	Ovary	ovary
38	chr10:61799600-61801600	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr10:61799600-61803400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr10:61799600-61803600	Enhancers	Fetal Lung	lung
41	chr10:61800000-61802600	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr10:61800000-61802800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr10:61800000-61819000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr10:61800200-61801600	Strong transcription	Fetal Heart	heart
45	chr10:61800400-61803400	Weak transcription	Osteobl	bone
46	chr10:61800600-61801600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr10:61800600-61801800	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr10:61800800-61801600	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr10:61800800-61802200	Enhancers	Duodenum Mucosa	Duodenum
50	chr10:61800800-61819000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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