Variant report

Variant	esv3406489
Chromosome Location	chr10:18926180-18928752
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:18927647..18933802-chr10:18937639..18941916,7	K562	blood:
2	chr10:18928489..18931214-chr10:18946847..18949825,2	MCF-7	breast:
3	chr10:18921869..18924781-chr10:18927596..18930415,2	K562	blood:
4	chr10:18923629..18926308-chr10:18938748..18941375,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152487	chromatin interactions
ENSG00000241058	chromatin interactions
ENSG00000165997	chromatin interactions

Extended variants
information (count: 124 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538795637	chr10:18926183-18926184	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs550782971	chr10:18926187-18926188	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs190050445	chr10:18926204-18926205	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs569218570	chr10:18926216-18926217	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs535282539	chr10:18926227-18926228	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs180958680	chr10:18926232-18926233	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs370602088	chr10:18926248-18926249	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs555511195	chr10:18926255-18926256	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs12247869	chr10:18926263-18926264	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs553381573	chr10:18926274-18926275	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs185172650	chr10:18926285-18926286	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs534830450	chr10:18926369-18926370	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143360184	chr10:18926446-18926447	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577826069	chr10:18926497-18926498	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545238303	chr10:18926524-18926525	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143866433	chr10:18926532-18926533	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541797674	chr10:18926550-18926551	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575564117	chr10:18926616-18926617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563374899	chr10:18926625-18926626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190900518	chr10:18926637-18926638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201290355	chr10:18926656-18926657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560738375	chr10:18926664-18926665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528039861	chr10:18926684-18926685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs199670060	chr10:18926707-18926708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546385139	chr10:18926723-18926724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370291750	chr10:18926725-18926726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548905562	chr10:18926729-18926730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148619584	chr10:18926738-18926739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532238375	chr10:18926794-18926795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142095043	chr10:18926819-18926820	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs151171361	chr10:18926828-18926829	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547056053	chr10:18926920-18926921	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536565630	chr10:18926936-18926937	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs75069035	chr10:18926941-18926942	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139120365	chr10:18926960-18926961	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74379930	chr10:18926977-18926978	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553083053	chr10:18926991-18926992	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183924788	chr10:18927011-18927012	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369042255	chr10:18927012-18927013	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542985197	chr10:18927058-18927059	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372391380	chr10:18927059-18927060	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144094101	chr10:18927068-18927069	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146498386	chr10:18927071-18927072	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528268440	chr10:18927087-18927088	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575400996	chr10:18927163-18927164	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188874655	chr10:18927164-18927165	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561585939	chr10:18927181-18927182	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370016081	chr10:18927188-18927189	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191777996	chr10:18927248-18927249	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs183000948	chr10:18927249-18927250	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
Intracranial aneurysm	16715129	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Olfactory neuroblastoma	18408657	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18905000-18938200	Weak transcription	Hela-S3	cervix
2	chr10:18916800-18930400	Weak transcription	Dnd41	blood
3	chr10:18916800-18935200	Weak transcription	K562	blood
4	chr10:18916800-18936200	Weak transcription	A549	lung
5	chr10:18916800-18937000	Weak transcription	GM12878-XiMat	blood
6	chr10:18916800-18938400	Weak transcription	HSMMtube	muscle
7	chr10:18916800-18939800	Weak transcription	Aorta	Aorta
8	chr10:18916800-18940200	Weak transcription	Spleen	Spleen
9	chr10:18917000-18926200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr10:18917000-18926800	Weak transcription	Fetal Intestine Large	intestine
11	chr10:18917000-18929000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr10:18917000-18929200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr10:18917000-18930200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr10:18917000-18930200	Weak transcription	Fetal Stomach	stomach
15	chr10:18917000-18930400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr10:18917000-18930400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr10:18917000-18930400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr10:18917000-18930400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr10:18917000-18930400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr10:18917000-18930400	Weak transcription	Fetal Muscle Leg	muscle
21	chr10:18917000-18930600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr10:18917000-18930600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr10:18917000-18930600	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr10:18917000-18930600	Weak transcription	Left Ventricle	heart
25	chr10:18917000-18930800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr10:18917000-18932400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr10:18917000-18932600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr10:18917000-18934200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr10:18917000-18934200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr10:18917000-18934400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr10:18917000-18934600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr10:18917000-18934600	Weak transcription	Fetal Brain Female	brain
33	chr10:18917000-18934800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr10:18917000-18934800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr10:18917000-18935000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr10:18917000-18935000	Weak transcription	Primary T cells from cord blood	blood
37	chr10:18917000-18936800	Weak transcription	Brain Germinal Matrix	brain
38	chr10:18917000-18937200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr10:18917000-18937400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr10:18917000-18938000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr10:18917000-18938200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr10:18917000-18938200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr10:18917000-18938200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr10:18917000-18938200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr10:18917000-18938200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr10:18917000-18938200	Weak transcription	Brain Angular Gyrus	brain
47	chr10:18917000-18938400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr10:18917000-18938400	Weak transcription	Ovary	ovary
49	chr10:18917000-18938400	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr10:18917000-18938400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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