Variant report

Variant	esv3438914
Chromosome Location	chr10:61542246-61547444
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 209 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:209 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573884413	chr10:61542272-61542273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535841647	chr10:61542298-61542299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192698139	chr10:61542313-61542314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4275570	chr10:61542317-61542318	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs545897580	chr10:61542325-61542326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564313474	chr10:61542339-61542340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1913513	chr10:61542343-61542344	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs540458570	chr10:61542404-61542405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374111582	chr10:61542410-61542411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562384885	chr10:61542412-61542413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145138870	chr10:61542423-61542424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1913512	chr10:61542476-61542477	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs185481913	chr10:61542477-61542478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112553025	chr10:61542537-61542538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11593920	chr10:61542571-61542572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142261228	chr10:61542583-61542584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190385119	chr10:61542587-61542588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533956273	chr10:61542589-61542590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548955586	chr10:61542599-61542600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567542653	chr10:61542600-61542601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12249754	chr10:61542601-61542602	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs146027540	chr10:61542610-61542611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12413093	chr10:61542708-61542709	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs1985846	chr10:61542709-61542710	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs557812798	chr10:61542744-61542745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573027920	chr10:61542765-61542766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181512990	chr10:61542768-61542769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555721260	chr10:61542801-61542802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2009900	chr10:61542812-61542813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12264432	chr10:61542828-61542829	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs186643839	chr10:61542844-61542845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544580236	chr10:61542848-61542849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562474950	chr10:61542861-61542862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12265948	chr10:61542916-61542917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564441414	chr10:61542997-61542998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560288707	chr10:61543035-61543036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12571058	chr10:61543066-61543067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376221830	chr10:61543105-61543106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7079167	chr10:61543150-61543151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530794161	chr10:61543577-61543578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549121258	chr10:61543600-61543601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9664610	chr10:61543606-61543607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373210411	chr10:61543624-61543625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs61847245	chr10:61543638-61543639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61847246	chr10:61543695-61543696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111496898	chr10:61543696-61543697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549823784	chr10:61543741-61543742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571240872	chr10:61543831-61543832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370266901	chr10:61543931-61543932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539425698	chr10:61543997-61543998	Weak transcription	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:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:61537600-61582800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:61540000-61548600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr10:61540000-61551600	Weak transcription	Fetal Lung	lung
4	chr10:61540200-61546800	Weak transcription	Ovary	ovary
5	chr10:61540200-61549600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr10:61540200-61550200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr10:61540200-61550400	Weak transcription	NH-A	brain
8	chr10:61540200-61551600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr10:61540200-61551600	Weak transcription	Brain Anterior Caudate	brain
10	chr10:61540200-61551600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr10:61540200-61551800	Weak transcription	Brain Germinal Matrix	brain
12	chr10:61540200-61551800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr10:61540200-61552200	Weak transcription	Fetal Stomach	stomach
14	chr10:61540200-61562800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:61540800-61548800	Weak transcription	Psoas Muscle	Psoas
16	chr10:61540800-61548800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr10:61540800-61551600	Weak transcription	HSMM	muscle
18	chr10:61541000-61550400	Weak transcription	Fetal Muscle Leg	muscle
19	chr10:61541400-61551400	Weak transcription	Hela-S3	cervix
20	chr10:61541400-61551400	Weak transcription	HSMMtube	muscle
21	chr10:61542200-61549600	Weak transcription	Brain Substantia Nigra	brain
22	chr10:61544000-61547400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr10:61544200-61551400	Weak transcription	Brain Hippocampus Middle	brain
24	chr10:61544400-61549600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr10:61544400-61550400	Weak transcription	Primary T cells from cord blood	blood
26	chr10:61544600-61550400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr10:61544800-61545000	Enhancers	Colonic Mucosa	Colon
28	chr10:61544800-61550200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr10:61545000-61552400	Weak transcription	Colonic Mucosa	Colon
30	chr10:61545200-61548000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr10:61545200-61563200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr10:61545600-61545800	Enhancers	Spleen	Spleen
33	chr10:61545600-61547200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr10:61545600-61549600	Weak transcription	Primary B cells from cord blood	blood
35	chr10:61545600-61551800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr10:61545800-61563200	Weak transcription	Spleen	Spleen
37	chr10:61546000-61548200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr10:61546000-61548800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr10:61546000-61548800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr10:61546200-61546400	Enhancers	Rectal Smooth Muscle	rectum
41	chr10:61546200-61547800	Weak transcription	Fetal Intestine Small	intestine
42	chr10:61546200-61548800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr10:61546200-61549600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr10:61546200-61549600	Weak transcription	Fetal Intestine Large	intestine
45	chr10:61546200-61550000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr10:61546200-61551400	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr10:61546200-61551400	Weak transcription	A549	lung
48	chr10:61546200-61552400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr10:61546200-61553800	Weak transcription	Stomach Mucosa	stomach
50	chr10:61546400-61547800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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