Variant report

Variant	esv3436570
Chromosome Location	chr10:404252-405300
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537981684	chr10:404257-404258	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562212920	chr10:404266-404267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185033946	chr10:404308-404309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546427184	chr10:404370-404371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374050424	chr10:404388-404389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538576188	chr10:404406-404407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189462393	chr10:404441-404442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568780207	chr10:404451-404452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs151104274	chr10:404453-404454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554222152	chr10:404463-404464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574485734	chr10:404467-404468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533642825	chr10:404469-404470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368843062	chr10:404482-404483	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554434325	chr10:404484-404485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572087351	chr10:404538-404539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181735536	chr10:404542-404543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12777979	chr10:404543-404544	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537423017	chr10:404624-404625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577496118	chr10:404626-404627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186539213	chr10:404687-404688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540762844	chr10:404818-404819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191501497	chr10:404856-404857	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536861418	chr10:404883-404884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576611102	chr10:404921-404922	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12763197	chr10:404945-404946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs578008313	chr10:404950-404951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372004323	chr10:404968-404969	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181138592	chr10:405014-405015	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561923795	chr10:405031-405032	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs74993797	chr10:405052-405053	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541107857	chr10:405079-405080	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371195460	chr10:405083-405084	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559951680	chr10:405103-405104	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114176520	chr10:405106-405107	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186436798	chr10:405109-405110	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569136138	chr10:405114-405115	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531466323	chr10:405156-405157	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144791060	chr10:405171-405172	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557264792	chr10:405172-405173	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567961607	chr10:405175-405176	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533921284	chr10:405180-405181	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553919639	chr10:405182-405183	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574128597	chr10:405183-405184	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147913206	chr10:405188-405189	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556752650	chr10:405225-405226	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576711348	chr10:405242-405243	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542153669	chr10:405258-405259	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12573108	chr10:405276-405277	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371565842	chr10:405280-405281	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572335834	chr10:405291-405292	Weak transcription Strong transcription Genic enhancers 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:119 , 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	chr10:375800-418800	Weak transcription	Right Atrium	heart
3	chr10:375800-419800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr10:380200-423200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr10:383800-424200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr10:383800-433000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr10:384000-406400	Weak transcription	HepG2	liver
8	chr10:384000-414400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr10:384600-405600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr10:384600-415200	Weak transcription	Fetal Heart	heart
11	chr10:385600-409200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr10:385600-417200	Weak transcription	A549	lung
13	chr10:388800-407400	Weak transcription	NH-A	brain
14	chr10:391400-414600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr10:393200-414600	Strong transcription	Fetal Stomach	stomach
16	chr10:393600-406200	Strong transcription	Liver	Liver
17	chr10:393800-405000	Strong transcription	Fetal Muscle Trunk	muscle
18	chr10:393800-405000	Strong transcription	Fetal Muscle Leg	muscle
19	chr10:393800-407400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr10:393800-407600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:393800-414600	Strong transcription	Stomach Smooth Muscle	stomach
22	chr10:393800-414800	Strong transcription	Fetal Brain Female	brain
23	chr10:393800-415000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr10:393800-415400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr10:393800-415600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr10:393800-415600	Strong transcription	Left Ventricle	heart
27	chr10:393800-415800	Strong transcription	Osteobl	bone
28	chr10:393800-416400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr10:394000-405600	Strong transcription	Fetal Intestine Large	intestine
30	chr10:394000-415800	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr10:394400-415000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr10:394600-405800	Strong transcription	Fetal Intestine Small	intestine
33	chr10:394600-435400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr10:394800-407200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr10:395200-408200	Weak transcription	Fetal Kidney	kidney
36	chr10:395600-407200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr10:395600-414400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr10:395800-489400	Weak transcription	Stomach Mucosa	stomach
39	chr10:396400-411600	Weak transcription	Fetal Brain Male	brain
40	chr10:396600-404400	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr10:396600-405000	Strong transcription	Brain Hippocampus Middle	brain
42	chr10:396600-406800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr10:396600-415200	Strong transcription	Brain Germinal Matrix	brain
44	chr10:396600-415400	Strong transcription	Ovary	ovary
45	chr10:396600-415600	Strong transcription	Placenta	Placenta
46	chr10:396800-407200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr10:396800-409000	Strong transcription	Lung	lung
48	chr10:396800-414600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr10:397000-405000	Strong transcription	Brain Anterior Caudate	brain
50	chr10:397000-406800	Strong transcription	Adipose Nuclei	Adipose

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