Variant report

Variant	esv3357866
Chromosome Location	chr10:602577-605125
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:603209..605062-chr10:710188..713086,2	MCF-7	breast:
2	chr10:604798..606576-chr10:618326..620891,2	MCF-7	breast:
3	chr10:589190..591988-chr10:602233..604449,2	K562	blood:
4	chr10:596165..599651-chr10:599666..603906,4	MCF-7	breast:
5	chr10:596736..599613-chr10:602463..604723,2	MCF-7	breast:

Extended variants
information (count: 121 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568414462	chr10:602584-602585	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538038090	chr10:602586-602587	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527795131	chr10:602589-602590	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115837605	chr10:602592-602593	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148503463	chr10:602601-602602	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539877054	chr10:602604-602605	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116957129	chr10:602693-602694	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569182185	chr10:602711-602712	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7098672	chr10:602716-602717	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554761012	chr10:602755-602756	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371251861	chr10:602759-602760	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144556506	chr10:602769-602770	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548366263	chr10:602804-602805	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568058545	chr10:602811-602812	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12251693	chr10:602818-602819	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs576412601	chr10:602822-602823	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545824369	chr10:602857-602858	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563036457	chr10:602867-602868	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139299366	chr10:602868-602869	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs61077303	chr10:602869-602870	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185993184	chr10:602907-602908	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190516860	chr10:602931-602932	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556742214	chr10:602961-602962	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367791838	chr10:602973-602974	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542202179	chr10:602992-602993	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576799294	chr10:603012-603013	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539068521	chr10:603029-603030	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116680578	chr10:603061-603062	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370464036	chr10:603071-603072	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374598559	chr10:603076-603077	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182362912	chr10:603136-603137	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538161003	chr10:603148-603149	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114284126	chr10:603161-603162	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368132578	chr10:603172-603173	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77727275	chr10:603173-603174	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141387426	chr10:603189-603190	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11253183	chr10:603260-603261	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs575535872	chr10:603274-603275	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs544398875	chr10:603320-603321	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs12262087	chr10:603327-603328	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs370439240	chr10:603330-603331	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs556134310	chr10:603347-603348	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs374171498	chr10:603435-603436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375702035	chr10:603447-603448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576625967	chr10:603460-603461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542488241	chr10:603463-603464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145244389	chr10:603507-603508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572667637	chr10:603574-603575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540751365	chr10:603616-603617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs57725658	chr10:603623-603624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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	22522925	CNVD
Breast cancer	21858162	CNVD
Obesity	19966786	CNVD

Chromatin state (count:196 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:583200-604800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr10:593600-602800	Weak transcription	Fetal Intestine Small	intestine
3	chr10:593600-605000	Weak transcription	NH-A	brain
4	chr10:594000-604000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr10:594200-602800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:594200-604000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr10:594600-604000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr10:594600-604000	Weak transcription	Brain Germinal Matrix	brain
9	chr10:595200-602800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr10:595400-602600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr10:598000-607400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr10:598200-604000	Weak transcription	Fetal Kidney	kidney
13	chr10:598200-605600	Weak transcription	Fetal Lung	lung
14	chr10:598400-602600	Weak transcription	Fetal Brain Female	brain
15	chr10:599000-602600	Weak transcription	Brain Hippocampus Middle	brain
16	chr10:599000-602800	Weak transcription	Fetal Brain Male	brain
17	chr10:599200-602800	Weak transcription	Ovary	ovary
18	chr10:599400-604000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr10:599400-604200	Weak transcription	Esophagus	oesophagus
20	chr10:600200-605200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr10:600400-602800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr10:600400-603000	Enhancers	Spleen	Spleen
23	chr10:600400-603200	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr10:600400-608000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr10:600600-602800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr10:600600-606200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr10:600600-608000	Enhancers	Left Ventricle	heart
28	chr10:600800-602800	Weak transcription	Gastric	stomach
29	chr10:601000-604000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr10:601000-610000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr10:601200-603400	Enhancers	Brain Cingulate Gyrus	brain
32	chr10:601200-604600	Enhancers	Right Ventricle	heart
33	chr10:601400-604800	Enhancers	Pancreas	Pancrea
34	chr10:601600-603400	Enhancers	Fetal Muscle Trunk	muscle
35	chr10:601600-603400	Enhancers	Right Atrium	heart
36	chr10:601600-605600	Weak transcription	Psoas Muscle	Psoas
37	chr10:601600-613600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr10:601800-602800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr10:601800-602800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr10:601800-602800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr10:601800-602800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr10:601800-602800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr10:601800-602800	Weak transcription	Fetal Stomach	stomach
44	chr10:601800-603000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr10:601800-603200	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr10:602000-602600	Weak transcription	Brain Angular Gyrus	brain
47	chr10:602000-603000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr10:602200-602600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr10:602200-602600	Weak transcription	Fetal Muscle Leg	muscle
50	chr10:602400-602800	Enhancers	Stomach Smooth Muscle	stomach

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