Variant report

Variant	esv3314074
Chromosome Location	chr10:22868607-22869667
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:22869571..22871999-chr10:22969566..22972174,2	MCF-7	breast:
2	chr10:22867803..22869789-chr10:23344179..23345992,2	K562	blood:
3	chr10:22866106..22869303-chr10:23343034..23346067,3	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115577682	chr10:22868618-22868619	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185046515	chr10:22868624-22868625	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547213181	chr10:22868642-22868643	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566936741	chr10:22868655-22868656	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534745704	chr10:22868666-22868667	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538157422	chr10:22868667-22868668	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148595982	chr10:22868669-22868670	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571333718	chr10:22868694-22868695	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189458352	chr10:22868695-22868696	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556991243	chr10:22868712-22868713	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181032037	chr10:22868724-22868725	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145657373	chr10:22868731-22868732	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147359639	chr10:22868760-22868761	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372739267	chr10:22868782-22868783	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12360229	chr10:22868787-22868788	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs565047135	chr10:22868804-22868805	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368541249	chr10:22868813-22868814	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs60056993	chr10:22868819-22868820	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs544247426	chr10:22868832-22868833	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs58793923	chr10:22868843-22868844	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568522429	chr10:22868845-22868846	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184145576	chr10:22868848-22868849	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530459996	chr10:22868851-22868852	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189861536	chr10:22868860-22868861	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558401112	chr10:22868876-22868877	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144988892	chr10:22868902-22868903	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181186059	chr10:22868914-22868915	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571371043	chr10:22868923-22868924	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150962924	chr10:22868938-22868939	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550627807	chr10:22868942-22868943	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373448236	chr10:22868969-22868970	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567128161	chr10:22869001-22869002	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536214739	chr10:22869013-22869014	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553007042	chr10:22869020-22869021	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566719165	chr10:22869052-22869053	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538449440	chr10:22869055-22869056	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187035559	chr10:22869075-22869076	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140750795	chr10:22869087-22869088	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544285087	chr10:22869148-22869149	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs72816821	chr10:22869157-22869158	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs574764878	chr10:22869164-22869165	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs137950545	chr10:22869167-22869168	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs199848882	chr10:22869175-22869176	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374521262	chr10:22869180-22869181	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532797135	chr10:22869213-22869214	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs61847486	chr10:22869242-22869243	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs563055355	chr10:22869272-22869273	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181474409	chr10:22869275-22869276	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs72816822	chr10:22869328-22869329	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs567319625	chr10:22869336-22869337	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:39)

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
Acute lymphoblastic leukemia	22237106	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22822800-22870200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr10:22825600-22888000	Weak transcription	HMEC	breast
3	chr10:22829000-22887400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr10:22844000-22876600	Weak transcription	Right Ventricle	heart
5	chr10:22844200-22876200	Weak transcription	Ovary	ovary
6	chr10:22844200-22877200	Weak transcription	Colon Smooth Muscle	Colon
7	chr10:22844200-22904800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr10:22849600-22879000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr10:22850000-22869600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr10:22850400-22878800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr10:22850400-22882000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr10:22850400-22882600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr10:22851800-22874800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr10:22853600-22878600	Weak transcription	HUVEC	blood vessel
15	chr10:22853800-22876200	Weak transcription	Osteobl	bone
16	chr10:22854000-22869600	Weak transcription	Pancreas	Pancrea
17	chr10:22854000-22879000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr10:22854200-22887400	Weak transcription	NHDF-Ad	bronchial
19	chr10:22854200-22887400	Weak transcription	NHEK	skin
20	chr10:22855200-22871000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr10:22855600-22882600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr10:22855800-22879800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr10:22855800-22881400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr10:22856000-22870000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr10:22856600-22869800	Weak transcription	NH-A	brain
26	chr10:22856600-22899200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr10:22856800-22888200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr10:22857000-22888200	Weak transcription	Small Intestine	intestine
29	chr10:22857200-22879000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr10:22857400-22872200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr10:22857600-22869600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr10:22858200-22904000	Weak transcription	Colonic Mucosa	Colon
33	chr10:22859000-22871600	Strong transcription	K562	blood
34	chr10:22860000-22869600	Weak transcription	Psoas Muscle	Psoas
35	chr10:22860400-22871000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr10:22860400-22882200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr10:22860600-22871200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr10:22860600-22878000	Weak transcription	Fetal Brain Male	brain
39	chr10:22861000-22871000	Strong transcription	Fetal Stomach	stomach
40	chr10:22861400-22869600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr10:22862200-22869400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr10:22862200-22870000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr10:22862200-22876800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr10:22862200-22880400	Weak transcription	Fetal Kidney	kidney
45	chr10:22862200-22885800	Weak transcription	NHLF	lung
46	chr10:22862400-22869600	Weak transcription	Left Ventricle	heart
47	chr10:22862400-22879000	Weak transcription	Fetal Lung	lung
48	chr10:22862400-22886000	Weak transcription	HSMMtube	muscle
49	chr10:22862400-22887400	Weak transcription	A549	lung
50	chr10:22862400-22902000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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