Variant report

Variant	esv3430134
Chromosome Location	chr10:829152-831250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:733970..741093-chr10:828125..835309,12	MCF-7	breast:
2	chr10:829650..833485-chr10:834016..837949,4	MCF-7	breast:
3	chr10:550299..552878-chr10:830515..832425,2	MCF-7	breast:
4	chr10:632878..635792-chr10:829676..832349,2	MCF-7	breast:
5	chr10:634195..634721-chr10:829974..830911,3	MCF-7	breast:
6	chr10:733976..736630-chr10:829821..832143,2	MCF-7	breast:
7	chr10:826973..829590-chr10:832494..835604,4	K562	blood:

Variant related genes	Relation type
ENSG00000151240	chromatin interactions

Extended variants
information (count: 123 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373514307	chr10:829165-829166	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs116422139	chr10:829196-829197	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs543265049	chr10:829229-829230	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs563151869	chr10:829264-829265	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs115604105	chr10:829333-829334	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs548883879	chr10:829334-829335	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs370528012	chr10:829343-829344	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs534267023	chr10:829344-829345	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs528143392	chr10:829357-829358	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs551420680	chr10:829378-829379	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs12779510	chr10:829440-829441	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs571216359	chr10:829441-829442	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs554333526	chr10:829453-829454	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs537752341	chr10:829463-829464	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs551334675	chr10:829471-829472	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs369966853	chr10:829501-829502	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs190677579	chr10:829503-829504	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs553272950	chr10:829513-829514	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs566971249	chr10:829525-829526	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs373916978	chr10:829578-829579	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs558530205	chr10:829652-829653	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs575195416	chr10:829674-829675	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs544198888	chr10:829695-829696	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs556866357	chr10:829708-829709	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs61831430	chr10:829711-829712	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs61831431	chr10:829724-829725	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs184082069	chr10:829728-829729	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs61831432	chr10:829749-829750	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs56363028	chr10:829752-829753	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs545085812	chr10:829753-829754	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs542225801	chr10:829756-829757	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs112914337	chr10:829757-829758	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs55847006	chr10:829785-829786	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs55961533	chr10:829810-829811	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs55673800	chr10:829813-829814	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs75269376	chr10:829817-829818	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs74963934	chr10:829818-829819	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs76746256	chr10:829831-829832	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs77278146	chr10:829834-829835	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs371067622	chr10:829840-829841	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs77426869	chr10:829846-829847	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs530566449	chr10:829850-829851	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs78398070	chr10:829851-829852	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs373649437	chr10:829878-829879	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs550572199	chr10:829887-829888	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs367784026	chr10:829901-829902	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs12773366	chr10:830029-830030	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs567980971	chr10:830053-830054	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs12778578	chr10:830054-830055	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs530293377	chr10:830055-830056	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	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
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	21858162	CNVD
Obesity	19966786	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:818400-830600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:822000-830400	Weak transcription	Esophagus	oesophagus
3	chr10:825400-830400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:825400-830400	Weak transcription	NH-A	brain
5	chr10:827000-829200	Weak transcription	Pancreas	Pancrea
6	chr10:828800-829800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:828800-831200	Weak transcription	Fetal Heart	heart
8	chr10:829000-829400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr10:829000-829800	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr10:829200-829400	Enhancers	Pancreas	Pancrea
11	chr10:829200-830400	Enhancers	Ovary	ovary
12	chr10:829400-829600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr10:829400-829600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr10:829400-829600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr10:829400-829600	Enhancers	Lung	lung
16	chr10:829400-829600	Bivalent Enhancer	HepG2	liver
17	chr10:829400-829800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
18	chr10:829400-829800	Flanking Active TSS	Pancreas	Pancrea
19	chr10:829400-829800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
20	chr10:829600-829800	Enhancers	Brain Angular Gyrus	brain
21	chr10:829600-829800	Enhancers	Brain Cingulate Gyrus	brain
22	chr10:829600-829800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr10:829600-829800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
24	chr10:829600-829800	Enhancers	Spleen	Spleen
25	chr10:829600-830400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr10:829600-831800	Enhancers	Fetal Brain Male	brain
27	chr10:829800-830200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr10:829800-830400	Weak transcription	Brain Angular Gyrus	brain
29	chr10:829800-830400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr10:829800-830400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr10:829800-830400	Enhancers	Pancreas	Pancrea
32	chr10:829800-830400	Weak transcription	Spleen	Spleen
33	chr10:829800-830600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr10:830200-830400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
35	chr10:830200-830400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr10:830200-830400	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr10:830200-830400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr10:830200-830400	Active TSS	Right Ventricle	heart
39	chr10:830200-830400	Enhancers	Stomach Smooth Muscle	stomach
40	chr10:830200-831400	Enhancers	Lung	lung
41	chr10:830400-830600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
42	chr10:830400-830600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr10:830400-830600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
44	chr10:830400-830600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr10:830400-830600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr10:830400-830600	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr10:830400-830600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr10:830400-830600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr10:830400-830600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
50	chr10:830400-830600	Bivalent Enhancer	Brain Hippocampus Middle	brain

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