Variant report

Variant	esv2638233
Chromosome Location	chr10:946775-947072
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:944663..948383-chr10:976125..979684,3	MCF-7	breast:
2	chr10:946490..949266-chr10:1099107..1102532,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000107929	chromatin interactions
ENSG00000047056	chromatin interactions
ENSG00000229869	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112433082	chr10:946776-946777	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs569258524	chr10:946795-946796	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs369404869	chr10:946841-946842	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs569083527	chr10:946843-946844	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs34586444	chr10:946876-946877	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs538128586	chr10:946913-946914	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs554510425	chr10:946917-946918	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs574573244	chr10:946925-946926	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs12765174	chr10:946974-946975	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs373992501	chr10:947004-947005	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs576449268	chr10:947016-947017	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs186503480	chr10:947048-947049	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs562485138	chr10:947062-947063	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs71376872	chr10:947068-947069	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs34659517	chr10:947069-947070	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs112278509	chr10:947070-947071	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	20724749	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:852200-956400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:870600-959400	Weak transcription	Stomach Mucosa	stomach
3	chr10:925400-950800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr10:927600-972600	Weak transcription	Hela-S3	cervix
5	chr10:928000-947200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr10:928000-951600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr10:928000-954200	Weak transcription	Brain Germinal Matrix	brain
8	chr10:928000-954200	Weak transcription	Fetal Brain Female	brain
9	chr10:928000-963200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr10:928000-966400	Weak transcription	Small Intestine	intestine
11	chr10:929000-950600	Weak transcription	Fetal Kidney	kidney
12	chr10:929000-952200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr10:929200-952200	Weak transcription	Fetal Muscle Leg	muscle
14	chr10:929400-955800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr10:929400-975800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr10:929400-976400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr10:929800-951600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr10:929800-954200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr10:930000-954400	Weak transcription	Colonic Mucosa	Colon
20	chr10:930600-949000	Weak transcription	HUVEC	blood vessel
21	chr10:930600-952400	Weak transcription	HMEC	breast
22	chr10:930600-953600	Weak transcription	NH-A	brain
23	chr10:930800-949000	Weak transcription	Osteobl	bone
24	chr10:930800-953600	Weak transcription	NHDF-Ad	bronchial
25	chr10:931200-949000	Weak transcription	NHLF	lung
26	chr10:931200-952200	Weak transcription	Primary B cells from cord blood	blood
27	chr10:931400-949000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr10:931400-952400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr10:931400-953200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr10:931400-956000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr10:931600-948800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr10:931600-949000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr10:931600-949000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr10:931600-949000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr10:931600-951800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr10:931600-952400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr10:931600-953600	Weak transcription	Fetal Thymus	thymus
38	chr10:931600-965400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr10:931600-967400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr10:931800-947200	Weak transcription	Fetal Lung	lung
41	chr10:931800-948000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr10:931800-948200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr10:931800-948800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr10:931800-949000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr10:931800-949000	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr10:931800-949000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr10:931800-952400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr10:931800-952800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr10:931800-954000	Weak transcription	Thymus	Thymus
50	chr10:931800-954200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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