Variant report

Variant	esv3321706
Chromosome Location	chr10:560352-564650
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:557278..559128-chr10:564264..566805,2	MCF-7	breast:
2	chr10:556490..559348-chr10:561200..563635,4	MCF-7	breast:
3	chr10:561226..563645-chr10:565375..568269,2	K562	blood:
4	chr10:564005..566324-chr10:657951..660938,2	MCF-7	breast:
5	chr10:481593..483760-chr10:562967..565503,2	MCF-7	breast:
6	chr10:561185..563586-chr10:574597..576241,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233021	chromatin interactions

Extended variants
information (count: 223 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:223 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536727701	chr10:560358-560359	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs556686453	chr10:560361-560362	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs573293106	chr10:560373-560374	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs535853302	chr10:560375-560376	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs553342683	chr10:560408-560409	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs573503285	chr10:560415-560416	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs112445278	chr10:560418-560419	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs61301314	chr10:560426-560427	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs575936597	chr10:560485-560486	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs544714008	chr10:560488-560489	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs147106664	chr10:560489-560490	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs530072285	chr10:560492-560493	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs370961008	chr10:560512-560513	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs546997104	chr10:560524-560525	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs559353525	chr10:560525-560526	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs182027324	chr10:560526-560527	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs564918403	chr10:560582-560583	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs377133865	chr10:560587-560588	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs186064913	chr10:560588-560589	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs571107511	chr10:560589-560590	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs142608047	chr10:560596-560597	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs2386705	chr10:560600-560601	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs368684233	chr10:560613-560614	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs567024494	chr10:560614-560615	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs147726517	chr10:560616-560617	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs149187276	chr10:560654-560655	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs572781823	chr10:560660-560661	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs143310970	chr10:560674-560675	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs559030983	chr10:560704-560705	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs111769805	chr10:560710-560711	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs148323407	chr10:560735-560736	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs544824149	chr10:560737-560738	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs561342124	chr10:560757-560758	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs76921834	chr10:560759-560760	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs561006174	chr10:560771-560772	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs78608396	chr10:560784-560785	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs560516107	chr10:560789-560790	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs532449094	chr10:560833-560834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545279083	chr10:560836-560837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564845777	chr10:560846-560847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530570407	chr10:560848-560849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534775885	chr10:560888-560889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181512888	chr10:560923-560924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566988169	chr10:560935-560936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553346692	chr10:560944-560945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141442392	chr10:560951-560952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546403598	chr10:560981-560982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566457378	chr10:561042-561043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs80315310	chr10:561051-561052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559249629	chr10:561062-561063	Weak transcription Enhancers	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:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:545400-565000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr10:552600-567800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr10:553200-567000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr10:555600-564000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr10:556000-564200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:557400-563000	Weak transcription	Ovary	ovary
7	chr10:557400-566000	Weak transcription	Placenta	Placenta
8	chr10:557600-565000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr10:557600-568000	Weak transcription	NHDF-Ad	bronchial
10	chr10:557600-572600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr10:557600-577600	Weak transcription	NHLF	lung
12	chr10:557800-563200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr10:557800-565800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr10:557800-582200	Weak transcription	Osteobl	bone
15	chr10:558000-560400	Weak transcription	Fetal Lung	lung
16	chr10:558000-561800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr10:558000-562800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:558000-563000	Weak transcription	HSMMtube	muscle
19	chr10:558000-565600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr10:558000-568000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr10:558200-562800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr10:558400-565200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr10:559000-560800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr10:559000-564800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr10:559200-560400	Flanking Active TSS	Rectal Smooth Muscle	rectum
26	chr10:559200-560800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr10:559200-560800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr10:559200-560800	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr10:559400-560400	Enhancers	Fetal Intestine Large	intestine
30	chr10:559400-560400	Enhancers	Fetal Stomach	stomach
31	chr10:559400-560400	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr10:559400-560800	Enhancers	Liver	Liver
33	chr10:559400-560800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr10:559400-560800	Enhancers	Esophagus	oesophagus
35	chr10:559400-560800	Enhancers	Fetal Brain Male	brain
36	chr10:559400-560800	Enhancers	Fetal Muscle Trunk	muscle
37	chr10:559400-560800	Enhancers	Right Atrium	heart
38	chr10:559400-560800	Enhancers	Right Ventricle	heart
39	chr10:559400-560800	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr10:559400-561000	Enhancers	Fetal Muscle Leg	muscle
41	chr10:559400-561000	Enhancers	Left Ventricle	heart
42	chr10:559400-561200	Enhancers	Fetal Brain Female	brain
43	chr10:559400-565000	Enhancers	Brain Angular Gyrus	brain
44	chr10:559400-566200	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr10:559600-560400	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr10:559600-560400	Enhancers	Fetal Kidney	kidney
47	chr10:559600-560400	Weak transcription	Gastric	stomach
48	chr10:559600-560600	Genic enhancers	Fetal Intestine Small	intestine
49	chr10:559600-560800	Enhancers	Lung	lung
50	chr10:559600-576000	Weak transcription	Spleen	Spleen

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