Variant report

Variant	esv3424531
Chromosome Location	chr10:354010-354579
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:352835..354904-chr10:383242..385492,2	MCF-7	breast:
2	chr10:354319..356536-chr10:361569..363521,3	MCF-7	breast:
3	chr10:352441..354760-chr10:358582..361541,3	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540948431	chr10:354011-354012	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs3123229	chr10:354018-354019	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540706761	chr10:354043-354044	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563813244	chr10:354146-354147	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185613667	chr10:354153-354154	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149670316	chr10:354167-354168	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190026273	chr10:354168-354169	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs17159343	chr10:354207-354208	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs549147145	chr10:354210-354211	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs566060775	chr10:354217-354218	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs535149984	chr10:354220-354221	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs144432991	chr10:354246-354247	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs138244050	chr10:354292-354293	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs113301292	chr10:354293-354294	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs35198327	chr10:354301-354302	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs556321286	chr10:354307-354308	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs116632280	chr10:354353-354354	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs535724771	chr10:354401-354402	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs185787354	chr10:354402-354403	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs571733372	chr10:354438-354439	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs373268575	chr10:354468-354469	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs540591710	chr10:354507-354508	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs373242281	chr10:354519-354520	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs367984861	chr10:354573-354574	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:298400-354200	Weak transcription	Colonic Mucosa	Colon
2	chr10:321400-360400	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr10:326000-363800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr10:327800-360800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr10:329000-375200	Weak transcription	Psoas Muscle	Psoas
6	chr10:329200-357800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr10:329200-360400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr10:330400-359000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr10:331400-375400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr10:331800-354200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr10:333000-362600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr10:337400-363200	Weak transcription	Esophagus	oesophagus
13	chr10:342400-375600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr10:343600-363200	Weak transcription	Fetal Brain Male	brain
15	chr10:343600-363600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr10:343800-358200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr10:344200-369400	Weak transcription	A549	lung
18	chr10:344200-369600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr10:344400-360400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr10:344400-363200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr10:344600-354400	Weak transcription	NH-A	brain
22	chr10:344600-354800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr10:344800-360400	Weak transcription	Small Intestine	intestine
24	chr10:346000-367400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr10:346400-356600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr10:347000-356600	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr10:349200-354200	Weak transcription	Gastric	stomach
28	chr10:349200-354200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr10:349200-354600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr10:349200-354800	Weak transcription	Lung	lung
31	chr10:349200-354800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr10:349200-379400	Weak transcription	Thymus	Thymus
33	chr10:350200-358400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr10:350200-358400	Strong transcription	Stomach Smooth Muscle	stomach
35	chr10:350600-356000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr10:350800-354600	Weak transcription	Fetal Lung	lung
37	chr10:351200-354200	Weak transcription	Brain Anterior Caudate	brain
38	chr10:351200-354600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr10:351200-360000	Weak transcription	Primary T cells from cord blood	blood
40	chr10:351200-363200	Weak transcription	Aorta	Aorta
41	chr10:351400-367600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr10:351600-356600	Genic enhancers	Fetal Muscle Leg	muscle
43	chr10:351600-358400	Strong transcription	Fetal Stomach	stomach
44	chr10:352000-355600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr10:352000-357200	Genic enhancers	Adipose Nuclei	Adipose
46	chr10:352000-358400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr10:352200-354200	Enhancers	Liver	Liver
48	chr10:352200-354600	Enhancers	HepG2	liver
49	chr10:352200-354800	Enhancers	Duodenum Mucosa	Duodenum
50	chr10:352200-354800	Enhancers	Pancreas	Pancrea

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