Variant report

Variant	esv1123063
Chromosome Location	chr10:61641855-61642099
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:61628363..61632189-chr10:61637394..61643761,6	K562	blood:
2	chr10:61642094..61644181-chr10:61649311..61651720,2	K562	blood:
3	chr10:61639063..61643015-chr10:61647185..61650219,3	MCF-7	breast:
4	chr10:61641536..61643091-chr10:61645394..61647753,2	MCF-7	breast:
5	chr10:61636740..61643413-chr10:61643807..61649213,6	K562	blood:
6	chr10:61632537..61634435-chr10:61640656..61642857,2	MCF-7	breast:
7	chr10:61641674..61643594-chr10:61648088..61650811,2	K562	blood:
8	chr10:61638896..61642309-chr10:61665188..61667493,3	K562	blood:
9	chr10:61633677..61637740-chr10:61638115..61642166,4	K562	blood:
10	chr10:61636496..61638711-chr10:61641760..61644230,2	MCF-7	breast:
11	chr10:61640293..61643125-chr10:61664795..61666558,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000108091	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200663442	chr10:61641856-61641857	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs139947489	chr10:61641875-61641876	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs71185292	chr10:61641876-61641877	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs78439500	chr10:61641877-61641878	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs113474554	chr10:61641879-61641880	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs371574060	chr10:61641897-61641898	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs78204333	chr10:61641922-61641923	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs377761120	chr10:61641923-61641924	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs75050672	chr10:61641928-61641929	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs74556372	chr10:61641972-61641973	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs536782446	chr10:61642013-61642014	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs577912898	chr10:61642057-61642058	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs375030178	chr10:61642071-61642072	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs145366736	chr10:61642095-61642096	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs111719446	chr10:61642096-61642097	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:61625000-61655400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:61630000-61647800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr10:61633400-61643200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr10:61633400-61645200	Weak transcription	Fetal Thymus	thymus
5	chr10:61633400-61647800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr10:61633400-61647800	Weak transcription	Fetal Muscle Leg	muscle
7	chr10:61633400-61647800	Weak transcription	Fetal Stomach	stomach
8	chr10:61633400-61648600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr10:61633600-61645200	Weak transcription	Brain Germinal Matrix	brain
10	chr10:61634000-61645000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr10:61634000-61645600	Weak transcription	Fetal Lung	lung
12	chr10:61634000-61646800	Weak transcription	Adipose Nuclei	Adipose
13	chr10:61634400-61648800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr10:61634400-61649000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr10:61634400-61651200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr10:61634800-61645200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr10:61635000-61644000	Weak transcription	Brain Angular Gyrus	brain
18	chr10:61635000-61645400	Weak transcription	Brain Substantia Nigra	brain
19	chr10:61635000-61646800	Weak transcription	Right Ventricle	heart
20	chr10:61635600-61647600	Weak transcription	Brain Anterior Caudate	brain
21	chr10:61635800-61648600	Enhancers	Primary B cells from peripheral blood	blood
22	chr10:61637000-61642200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr10:61637400-61645400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr10:61637400-61647800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr10:61637400-61648400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr10:61637600-61645200	Weak transcription	Right Atrium	heart
27	chr10:61637600-61653600	Weak transcription	NHDF-Ad	bronchial
28	chr10:61637800-61645800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr10:61637800-61648800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr10:61637800-61649200	Weak transcription	HMEC	breast
31	chr10:61637800-61653600	Weak transcription	NH-A	brain
32	chr10:61638200-61646800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr10:61638400-61647000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr10:61638400-61653600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr10:61638400-61653600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr10:61638400-61653600	Weak transcription	Osteobl	bone
37	chr10:61638600-61646800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr10:61638600-61647800	Weak transcription	Ovary	ovary
39	chr10:61638600-61653200	Weak transcription	HSMMtube	muscle
40	chr10:61638800-61643600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr10:61639400-61642200	Enhancers	Primary T cells fromperipheralblood	blood
42	chr10:61639400-61645200	Weak transcription	Liver	Liver
43	chr10:61639600-61645000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr10:61639600-61648800	Weak transcription	Thymus	Thymus
45	chr10:61639800-61646600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr10:61640200-61645600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr10:61640200-61647800	Weak transcription	Aorta	Aorta
48	chr10:61640600-61648800	Weak transcription	HepG2	liver
49	chr10:61640800-61645000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr10:61641000-61645200	Weak transcription	Left Ventricle	heart

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