Variant report

Variant	esv3415800
Chromosome Location	chr10:398987-399262
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:396298..399033-chr10:399080..401152,2	MCF-7	breast:
2	chr10:396298..399033-chr10:399080..401152,2	MCF-7	breast:
3	chr10:398777..400359-chr10:415117..417057,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112396964	chr10:398992-398993	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552297858	chr10:398998-398999	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569264806	chr10:399023-399024	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs151174145	chr10:399068-399069	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs117191682	chr10:399076-399077	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114261443	chr10:399103-399104	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7902669	chr10:399104-399105	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs140190391	chr10:399122-399123	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201816859	chr10:399123-399124	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370123668	chr10:399125-399126	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139086302	chr10:399148-399149	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192774599	chr10:399166-399167	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149884994	chr10:399177-399178	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564587574	chr10:399193-399194	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546061363	chr10:399194-399195	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182569160	chr10:399197-399198	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35257217	chr10:399217-399218	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146421346	chr10:399219-399220	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12257377	chr10:399236-399237	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575649394	chr10:399258-399259	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529765902	chr10:399261-399262	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:370400-418200	Weak transcription	Small Intestine	intestine
2	chr10:375800-402200	Weak transcription	Psoas Muscle	Psoas
3	chr10:375800-418800	Weak transcription	Right Atrium	heart
4	chr10:375800-419800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr10:380200-423200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr10:383800-400600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr10:383800-424200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr10:383800-433000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr10:384000-400400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr10:384000-406400	Weak transcription	HepG2	liver
11	chr10:384000-414400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr10:384600-405600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr10:384600-415200	Weak transcription	Fetal Heart	heart
14	chr10:385000-400800	Weak transcription	Colonic Mucosa	Colon
15	chr10:385600-409200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr10:385600-417200	Weak transcription	A549	lung
17	chr10:385800-399800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr10:388800-407400	Weak transcription	NH-A	brain
19	chr10:391400-399800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr10:391400-414600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr10:393200-414600	Strong transcription	Fetal Stomach	stomach
22	chr10:393600-406200	Strong transcription	Liver	Liver
23	chr10:393800-403800	Strong transcription	Brain Substantia Nigra	brain
24	chr10:393800-405000	Strong transcription	Fetal Muscle Trunk	muscle
25	chr10:393800-405000	Strong transcription	Fetal Muscle Leg	muscle
26	chr10:393800-407400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr10:393800-407600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr10:393800-414600	Strong transcription	Stomach Smooth Muscle	stomach
29	chr10:393800-414800	Strong transcription	Fetal Brain Female	brain
30	chr10:393800-415000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr10:393800-415400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr10:393800-415600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr10:393800-415600	Strong transcription	Left Ventricle	heart
34	chr10:393800-415800	Strong transcription	Osteobl	bone
35	chr10:393800-416400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr10:394000-403800	Strong transcription	Brain Cingulate Gyrus	brain
37	chr10:394000-405600	Strong transcription	Fetal Intestine Large	intestine
38	chr10:394000-415800	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr10:394400-415000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr10:394600-401400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr10:394600-405800	Strong transcription	Fetal Intestine Small	intestine
42	chr10:394600-435400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr10:394800-407200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr10:395000-399600	Weak transcription	HSMM	muscle
45	chr10:395000-399800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr10:395200-399600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr10:395200-408200	Weak transcription	Fetal Kidney	kidney
48	chr10:395400-399800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr10:395400-399800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr10:395400-400200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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