Variant report

Variant	esv3508624
Chromosome Location	chr10:425655-426433
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570966730	chr10:425656-425657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547293291	chr10:425662-425663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10904075	chr10:425667-425668	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs370341902	chr10:425670-425671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569302649	chr10:425738-425739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568982905	chr10:425758-425759	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538006504	chr10:425760-425761	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116141488	chr10:425777-425778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568337959	chr10:425793-425794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111811552	chr10:425794-425795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368556409	chr10:425816-425817	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145808885	chr10:425827-425828	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188498370	chr10:425828-425829	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372186901	chr10:425843-425844	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576576396	chr10:425848-425849	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542002257	chr10:425858-425859	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376144286	chr10:425862-425863	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562092322	chr10:425866-425867	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10751936	chr10:425869-425870	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs541287715	chr10:425873-425874	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs180928826	chr10:425884-425885	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533333770	chr10:425889-425890	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11596939	chr10:425890-425891	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs570122407	chr10:425896-425897	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112262823	chr10:425907-425908	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111649579	chr10:425915-425916	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113267986	chr10:425918-425919	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113777504	chr10:425930-425931	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548399691	chr10:425934-425935	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372486174	chr10:425966-425967	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568403067	chr10:425987-425988	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534087771	chr10:425998-425999	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190718031	chr10:426010-426011	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181963915	chr10:426024-426025	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201767813	chr10:426030-426031	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539384061	chr10:426033-426034	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556019036	chr10:426034-426035	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs202106411	chr10:426046-426047	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576064229	chr10:426065-426066	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190168661	chr10:426079-426080	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535693902	chr10:426086-426087	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186389777	chr10:426088-426089	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190748362	chr10:426100-426101	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs199685156	chr10:426101-426102	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564769659	chr10:426116-426117	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373313428	chr10:426123-426124	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181592483	chr10:426135-426136	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543780570	chr10:426144-426145	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11814866	chr10:426166-426167	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs56803010	chr10:426167-426168	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:383800-433000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr10:394600-435400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr10:395800-489400	Weak transcription	Stomach Mucosa	stomach
4	chr10:399000-428400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr10:405400-426400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr10:408800-435400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr10:409200-428200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr10:414800-435400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr10:415400-425800	Weak transcription	Ovary	ovary
10	chr10:415600-427400	Weak transcription	Esophagus	oesophagus
11	chr10:415600-453800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr10:418400-458400	Weak transcription	Small Intestine	intestine
13	chr10:419000-436000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr10:419800-435400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr10:420000-427400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr10:420000-435400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr10:420000-442600	Weak transcription	Psoas Muscle	Psoas
18	chr10:420200-453200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr10:420600-425800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr10:420600-427800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr10:420600-432800	Strong transcription	Fetal Muscle Trunk	muscle
22	chr10:420600-433200	Strong transcription	Fetal Muscle Leg	muscle
23	chr10:420600-446200	Strong transcription	Fetal Stomach	stomach
24	chr10:420800-437000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr10:421000-426400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr10:421000-437600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr10:421200-437600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr10:421400-428200	Weak transcription	NH-A	brain
29	chr10:421600-425800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr10:421600-425800	Strong transcription	Stomach Smooth Muscle	stomach
31	chr10:421600-430600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr10:421600-436000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr10:421600-461800	Weak transcription	A549	lung
34	chr10:421800-432400	Strong transcription	Brain Hippocampus Middle	brain
35	chr10:421800-440200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr10:422000-425800	Weak transcription	Lung	lung
37	chr10:422000-427600	Strong transcription	Fetal Intestine Small	intestine
38	chr10:422000-427800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr10:422000-437800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr10:422200-426200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr10:422800-425800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr10:422800-428400	Strong transcription	Gastric	stomach
43	chr10:422800-438200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr10:423200-426400	Strong transcription	Colon Smooth Muscle	Colon
45	chr10:423200-427400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr10:423200-428600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr10:423200-436400	Strong transcription	Brain Substantia Nigra	brain
48	chr10:423200-436400	Strong transcription	HSMMtube	muscle
49	chr10:423400-427800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr10:423400-436200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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