Variant report

Variant	esv3359184
Chromosome Location	chr10:61583242-61583529
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	chr10:61582052..61584614-chr10:61587105..61589792,2	MCF-7	breast:
2	chr10:61580754..61584536-chr10:61589031..61592298,3	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566565915	chr10:61583246-61583247	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7078533	chr10:61583345-61583346	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs548782839	chr10:61583369-61583370	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567160777	chr10:61583382-61583383	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537728672	chr10:61583385-61583386	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550601476	chr10:61583389-61583390	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201483185	chr10:61583408-61583409	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556470462	chr10:61583425-61583426	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10994033	chr10:61583426-61583427	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560233665	chr10:61583479-61583480	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575543174	chr10:61583481-61583482	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539821417	chr10:61583482-61583483	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566222176	chr10:61583503-61583504	Weak transcription ZNF genes & repeats Strong transcription Enhancers	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:61556000-61583800	Strong transcription	Primary B cells from peripheral blood	blood
2	chr10:61565400-61586600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr10:61567000-61593600	Weak transcription	Small Intestine	intestine
4	chr10:61571000-61591200	Weak transcription	NHEK	skin
5	chr10:61571400-61628000	Weak transcription	Spleen	Spleen
6	chr10:61571600-61583600	Weak transcription	GM12878-XiMat	blood
7	chr10:61571600-61585400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr10:61571600-61585800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr10:61571600-61585800	Weak transcription	Lung	lung
10	chr10:61571600-61585800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr10:61571600-61595800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr10:61571600-61598400	Weak transcription	Fetal Brain Female	brain
13	chr10:61571600-61609200	Weak transcription	NHLF	lung
14	chr10:61571600-61616000	Weak transcription	Fetal Kidney	kidney
15	chr10:61572000-61615000	Weak transcription	Colonic Mucosa	Colon
16	chr10:61572200-61585200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr10:61572400-61589200	Weak transcription	K562	blood
18	chr10:61572400-61591200	Weak transcription	Hela-S3	cervix
19	chr10:61572400-61618800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr10:61572600-61583600	Weak transcription	Brain Hippocampus Middle	brain
21	chr10:61572600-61584200	Weak transcription	Fetal Lung	lung
22	chr10:61572800-61591200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr10:61572800-61591200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr10:61573000-61598400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr10:61573400-61585600	Weak transcription	Adipose Nuclei	Adipose
26	chr10:61574200-61586200	Weak transcription	Placenta	Placenta
27	chr10:61574200-61589000	Weak transcription	Liver	Liver
28	chr10:61574200-61589200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr10:61574600-61588400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr10:61574600-61589000	Weak transcription	HMEC	breast
31	chr10:61574600-61589200	Weak transcription	Fetal Thymus	thymus
32	chr10:61574800-61587400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr10:61574800-61589400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr10:61575000-61584000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr10:61576000-61586800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr10:61576600-61594400	Weak transcription	Fetal Heart	heart
37	chr10:61578000-61585000	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr10:61578000-61585800	Weak transcription	Gastric	stomach
39	chr10:61578000-61586400	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr10:61578000-61590600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr10:61578000-61590600	Weak transcription	NH-A	brain
42	chr10:61578000-61590800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr10:61578000-61591400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr10:61578000-61623200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr10:61578200-61585800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr10:61578200-61589600	Weak transcription	Brain Angular Gyrus	brain
47	chr10:61578200-61590400	Weak transcription	Osteobl	bone
48	chr10:61578200-61590600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr10:61578200-61591200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr10:61578200-61591400	Weak transcription	Esophagus	oesophagus

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