Variant report

Variant	esv3369139
Chromosome Location	chr10:21557090-21557742
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:21462514..21467355-chr10:21556681..21560290,5	MCF-7	breast:
2	chr10:21557377..21560359-chr10:21813156..21816034,2	K562	blood:
3	chr10:21461649..21464762-chr10:21553018..21558600,10	MCF-7	breast:
4	chr10:21460498..21462465-chr10:21556491..21558927,2	K562	blood:

Variant related genes	Relation type
ENSG00000078114	chromatin interactions
ENSG00000180592	chromatin interactions
ENSG00000231920	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 35 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188320816	chr10:21557090-21557091	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs181088681	chr10:21557109-21557110	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs117989502	chr10:21557129-21557130	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs372661706	chr10:21557153-21557154	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs377295488	chr10:21557166-21557167	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs186444751	chr10:21557225-21557226	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs375800040	chr10:21557235-21557236	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs12354832	chr10:21557244-21557245	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs114822950	chr10:21557248-21557249	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs576554575	chr10:21557260-21557261	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs115580323	chr10:21557262-21557263	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs562368648	chr10:21557274-21557275	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs191683914	chr10:21557366-21557367	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs202006533	chr10:21557454-21557455	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs540231669	chr10:21557494-21557495	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs183570260	chr10:21557535-21557536	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs532230018	chr10:21557597-21557598	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs552215275	chr10:21557600-21557601	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs117857452	chr10:21557610-21557611	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs61851515	chr10:21557627-21557628	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs11818736	chr10:21557720-21557721	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs139217276	chr10:21557731-21557732	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:35)

Disease	PMID	Source
Breast cancer	17133270	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
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	21525872	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:21550200-21559800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr10:21550200-21560200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr10:21550400-21559800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr10:21550400-21560200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr10:21551200-21564000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr10:21553400-21567000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr10:21554800-21561400	Weak transcription	Hela-S3	cervix
8	chr10:21554800-21561400	Weak transcription	K562	blood
9	chr10:21555000-21558000	Weak transcription	Fetal Lung	lung
10	chr10:21555600-21559800	Weak transcription	A549	lung
11	chr10:21556000-21558000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:21556400-21557400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr10:21556400-21557400	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr10:21557400-21558200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr10:21557400-21559800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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