Variant report

Variant	esv2645763
Chromosome Location	chr10:119041200-119042553
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	chr10:119038341..119040468-chr10:119041831..119043612,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566848363	chr10:119041296-119041297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529524858	chr10:119041297-119041298	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150169743	chr10:119041319-119041320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73394912	chr10:119041394-119041395	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs184407652	chr10:119041442-119041443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532998820	chr10:119041459-119041460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138363683	chr10:119041552-119041553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372308314	chr10:119041670-119041671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149251332	chr10:119041686-119041687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553181718	chr10:119041738-119041739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573210037	chr10:119041747-119041748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372269786	chr10:119041813-119041814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs363239	chr10:119041885-119041886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs363240	chr10:119041890-119041891	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs363288	chr10:119041945-119041946	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs575555360	chr10:119041991-119041992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs41284390	chr10:119042031-119042032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552842467	chr10:119042036-119042037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74159163	chr10:119042100-119042101	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs533441720	chr10:119042125-119042126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534549887	chr10:119042152-119042153	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540456711	chr10:119042159-119042160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560301822	chr10:119042231-119042232	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529589441	chr10:119042254-119042255	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192760675	chr10:119042301-119042302	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569493632	chr10:119042303-119042304	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536226790	chr10:119042354-119042355	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184821321	chr10:119042380-119042381	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12337	chr10:119042408-119042409	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs570483780	chr10:119042506-119042507	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539526795	chr10:119042521-119042522	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
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
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
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	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
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cornelia de Lange syndrome	24599119	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	16397240	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hepatocellular carcinoma	16750200	CNVD
Barrett''s syndrome	19417022	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neuroticism	17667963	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Sezary syndrome	18413736	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:119020000-119042600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr10:119020600-119043200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr10:119020600-119045400	Weak transcription	Fetal Heart	heart
4	chr10:119021400-119043200	Weak transcription	Fetal Intestine Small	intestine
5	chr10:119022600-119042000	Weak transcription	Fetal Intestine Large	intestine
6	chr10:119023800-119043200	Weak transcription	Spleen	Spleen
7	chr10:119027800-119042600	Weak transcription	HepG2	liver
8	chr10:119028800-119042600	Weak transcription	Fetal Kidney	kidney
9	chr10:119029200-119042800	Weak transcription	Primary T cells from cord blood	blood
10	chr10:119029200-119043000	Weak transcription	Fetal Thymus	thymus
11	chr10:119029200-119043200	Weak transcription	Fetal Stomach	stomach
12	chr10:119031200-119042600	Weak transcription	Thymus	Thymus
13	chr10:119031400-119042200	Weak transcription	NH-A	brain
14	chr10:119031600-119041200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr10:119031600-119042600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr10:119031600-119043000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr10:119031600-119043000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr10:119031600-119043000	Weak transcription	A549	lung
19	chr10:119031800-119043200	Weak transcription	NHEK	skin
20	chr10:119031800-119043800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr10:119032000-119042600	Weak transcription	HMEC	breast
22	chr10:119032000-119044000	Weak transcription	Aorta	Aorta
23	chr10:119032000-119050600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr10:119032400-119042600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr10:119032400-119043800	Weak transcription	Esophagus	oesophagus
26	chr10:119032400-119051000	Weak transcription	Ovary	ovary
27	chr10:119032600-119043000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr10:119032600-119046200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr10:119032600-119063200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr10:119034400-119043200	Weak transcription	Gastric	stomach
31	chr10:119034600-119042600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr10:119034800-119041200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr10:119034800-119041200	Weak transcription	Liver	Liver
34	chr10:119034800-119042600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr10:119034800-119042800	Weak transcription	Dnd41	blood
36	chr10:119035000-119042200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr10:119035000-119042800	Weak transcription	HSMM	muscle
38	chr10:119035000-119043000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr10:119035200-119042200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr10:119035200-119043800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr10:119035400-119042600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr10:119035400-119058000	Weak transcription	Small Intestine	intestine
43	chr10:119035800-119043800	Weak transcription	Lung	lung
44	chr10:119036400-119043000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr10:119036600-119042800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr10:119036600-119044200	Weak transcription	HSMMtube	muscle
47	chr10:119037200-119042800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr10:119037200-119044000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr10:119037400-119042600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr10:119037600-119043200	Weak transcription	Primary T cells fromperipheralblood	blood

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