Variant report

Variant	esv2087409
Chromosome Location	chr10:27608927-27609358
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:26985698..26986799-chr10:27608358..27609419,4	HCT-116	colon:
2	chr10:26984968..26988044-chr10:27607336..27609040,6	MCF-7	breast:
3	chr10:26985474..26987624-chr10:27607358..27610341,4	MCF-7	breast:
4	chr10:27607489..27609150-chr10:27638206..27640628,2	MCF-7	breast:
5	chr10:27609103..27610966-chr10:27614340..27616128,2	K562	blood:

Variant related genes	Relation type
ENSG00000148459	chromatin interactions
ENSG00000213770	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7916462	chr10:27608975-27608976	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs181102752	chr10:27608995-27608996	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs7904595	chr10:27608999-27609000	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs186174174	chr10:27609079-27609080	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs554856168	chr10:27609103-27609104	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs535602086	chr10:27609118-27609119	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs58293608	chr10:27609134-27609135	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs56918749	chr10:27609139-27609140	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs57154451	chr10:27609146-27609147	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs7915661	chr10:27609152-27609153	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs59970014	chr10:27609161-27609162	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs61435137	chr10:27609167-27609168	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs61664405	chr10:27609184-27609185	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs76018769	chr10:27609188-27609189	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs190651819	chr10:27609262-27609263	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs553630228	chr10:27609323-27609324	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs16927221	chr10:27609332-27609333	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs61849721	chr10:27609343-27609344	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs371274225	chr10:27609358-27609359	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:44)

Disease	PMID	Source
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
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Autism	21439084	CNVD
Maculopathy	20981449	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21525872	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27608200-27609200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:27608200-27609200	Enhancers	Primary B cells from peripheral blood	blood
3	chr10:27608200-27609200	Enhancers	Fetal Brain Male	brain
4	chr10:27608200-27609400	Enhancers	Esophagus	oesophagus
5	chr10:27608200-27609800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr10:27608400-27609000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr10:27608400-27609000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr10:27608400-27609000	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr10:27608400-27609000	Active TSS	Fetal Kidney	kidney
10	chr10:27608400-27609000	Flanking Active TSS	GM12878-XiMat	blood
11	chr10:27608400-27609200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr10:27608400-27609200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr10:27608400-27609200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr10:27608400-27609200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr10:27608400-27609200	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr10:27608400-27609200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr10:27608400-27609200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
18	chr10:27608400-27609200	Active TSS	A549	lung
19	chr10:27608400-27609200	Flanking Active TSS	HUVEC	blood vessel
20	chr10:27608400-27609200	Active TSS	NH-A	brain
21	chr10:27608400-27609400	Enhancers	Fetal Heart	heart
22	chr10:27608400-27609400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr10:27608600-27609000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr10:27608600-27609000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr10:27608600-27609000	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr10:27608600-27609000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
27	chr10:27608600-27609000	Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr10:27608600-27609000	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
29	chr10:27608600-27609000	Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr10:27608600-27609000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
31	chr10:27608600-27609000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
32	chr10:27608600-27609000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr10:27608600-27609000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr10:27608600-27609000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr10:27608600-27609000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr10:27608600-27609000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr10:27608600-27609000	Active TSS	Adipose Nuclei	Adipose
38	chr10:27608600-27609000	Active TSS	Aorta	Aorta
39	chr10:27608600-27609000	Active TSS	Brain Angular Gyrus	brain
40	chr10:27608600-27609000	Active TSS	Duodenum Mucosa	Duodenum
41	chr10:27608600-27609000	Active TSS	Fetal Brain Female	brain
42	chr10:27608600-27609000	Active TSS	Fetal Intestine Large	intestine
43	chr10:27608600-27609000	Flanking Active TSS	Fetal Muscle Trunk	muscle
44	chr10:27608600-27609000	Active TSS	Ovary	ovary
45	chr10:27608600-27609000	Active TSS	Pancreas	Pancrea
46	chr10:27608600-27609000	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
47	chr10:27608600-27609000	Active TSS	Right Atrium	heart
48	chr10:27608600-27609000	Active TSS	Right Ventricle	heart
49	chr10:27608600-27609000	Bivalent/Poised TSS	Thymus	Thymus
50	chr10:27608600-27609000	Bivalent/Poised TSS	HSMM	muscle

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