Variant report

Variant	nsv819504
Chromosome Location	chr10:564975-566064
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:481593..483760-chr10:562967..565503,2	MCF-7	breast:
2	chr10:565187..567915-chr10:586471..588342,2	MCF-7	breast:
3	chr10:565703..567575-chr10:571015..572923,2	MCF-7	breast:
4	chr10:564005..566324-chr10:657951..660938,2	MCF-7	breast:
5	chr10:557278..559128-chr10:564264..566805,2	MCF-7	breast:
6	chr10:561226..563645-chr10:565375..568269,2	K562	blood:

Variant related genes	Relation type
ENSG00000233021	chromatin interactions

Extended variants
information (count: 55 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557205797	chr10:565020-565021	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs149825224	chr10:565023-565024	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs542987935	chr10:565037-565038	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs577026902	chr10:565068-565069	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs372218545	chr10:565070-565071	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs186875882	chr10:565096-565097	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs545507101	chr10:565111-565112	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs4881392	chr10:565119-565120	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs530879944	chr10:565161-565162	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs114722727	chr10:565162-565163	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs562874463	chr10:565169-565170	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs191355509	chr10:565216-565217	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs183714993	chr10:565218-565219	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs529170997	chr10:565231-565232	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs549055316	chr10:565242-565243	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs565859260	chr10:565250-565251	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs534519527	chr10:565262-565263	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs145791332	chr10:565285-565286	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs148958685	chr10:565329-565330	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs536618134	chr10:565353-565354	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs11252917	chr10:565362-565363	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs187815217	chr10:565370-565371	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs372303852	chr10:565384-565385	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs193145265	chr10:565386-565387	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs185682757	chr10:565390-565391	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs573342562	chr10:565391-565392	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs559634887	chr10:565394-565395	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs200244817	chr10:565428-565429	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs545617825	chr10:565439-565440	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs377488266	chr10:565456-565457	Enhancers Genic enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs374065407	chr10:565530-565531	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114097995	chr10:565531-565532	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531616829	chr10:565543-565544	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575823796	chr10:565548-565549	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544750914	chr10:565585-565586	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371819255	chr10:565640-565641	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561332986	chr10:565644-565645	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145680883	chr10:565647-565648	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542866983	chr10:565672-565673	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113255326	chr10:565686-565687	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528245813	chr10:565694-565695	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs117468360	chr10:565749-565750	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571145619	chr10:565750-565751	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190009201	chr10:565764-565765	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550447346	chr10:565775-565776	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372432071	chr10:565778-565779	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs72386179	chr10:565831-565832	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184238308	chr10:565917-565918	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138254539	chr10:565926-565927	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1773480	chr10:565943-565944	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:54)

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
Obesity	19966786	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:545400-565000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr10:552600-567800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr10:553200-567000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr10:557400-566000	Weak transcription	Placenta	Placenta
5	chr10:557600-565000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr10:557600-568000	Weak transcription	NHDF-Ad	bronchial
7	chr10:557600-572600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr10:557600-577600	Weak transcription	NHLF	lung
9	chr10:557800-565800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr10:557800-582200	Weak transcription	Osteobl	bone
11	chr10:558000-565600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr10:558000-568000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr10:558400-565200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr10:559400-565000	Enhancers	Brain Angular Gyrus	brain
15	chr10:559400-566200	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr10:559600-576000	Weak transcription	Spleen	Spleen
17	chr10:560400-565200	Weak transcription	Fetal Intestine Large	intestine
18	chr10:560400-568400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr10:560400-571200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr10:560600-565600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr10:560600-567800	Weak transcription	Small Intestine	intestine
22	chr10:560800-565000	Weak transcription	Gastric	stomach
23	chr10:560800-568400	Weak transcription	Esophagus	oesophagus
24	chr10:560800-571600	Weak transcription	Right Ventricle	heart
25	chr10:560800-572800	Weak transcription	Lung	lung
26	chr10:560800-575000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr10:561000-565600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr10:561000-567400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr10:561800-565000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr10:562200-565400	Weak transcription	Adipose Nuclei	Adipose
31	chr10:562200-567200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr10:562200-567800	Weak transcription	Left Ventricle	heart
33	chr10:562200-567800	Weak transcription	Right Atrium	heart
34	chr10:562600-565400	Enhancers	Brain Substantia Nigra	brain
35	chr10:562800-565000	Enhancers	Brain Anterior Caudate	brain
36	chr10:562800-565200	Enhancers	Brain Hippocampus Middle	brain
37	chr10:562800-565200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr10:562800-565400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr10:563000-565600	Enhancers	Brain Cingulate Gyrus	brain
40	chr10:563000-565600	Enhancers	Fetal Brain Male	brain
41	chr10:563000-568800	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr10:563200-565000	Enhancers	Brain Germinal Matrix	brain
43	chr10:563200-565800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr10:563200-568200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr10:563600-568400	Weak transcription	HSMM	muscle
46	chr10:563600-571200	Weak transcription	HSMMtube	muscle
47	chr10:563800-566000	Weak transcription	Colon Smooth Muscle	Colon
48	chr10:564000-566200	Strong transcription	Fetal Intestine Small	intestine
49	chr10:564000-566200	Strong transcription	Fetal Stomach	stomach
50	chr10:564400-565400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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