Variant report

Variant	esv13320
Chromosome Location	chr10:95594800-95609228
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:95596535..95599417-chr10:95653532..95655162,2	MCF-7	breast:
2	chr10:95600595..95602687-chr10:95615073..95617433,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176273	chromatin interactions

Extended variants
information (count: 438 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:438 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139058972	chr10:95594841-95594842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539730349	chr10:95594855-95594856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546230885	chr10:95594909-95594910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115254537	chr10:95594939-95594940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374195839	chr10:95594997-95594998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535384702	chr10:95595004-95595005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543560189	chr10:95595015-95595016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555182540	chr10:95595052-95595053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4919555	chr10:95595061-95595062	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs114334356	chr10:95595062-95595063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547686877	chr10:95595072-95595073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11187696	chr10:95595082-95595083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4919557	chr10:95595164-95595165	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs139653872	chr10:95595179-95595180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560346792	chr10:95595203-95595204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186324578	chr10:95595217-95595218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548892152	chr10:95595224-95595225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191230550	chr10:95595243-95595244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4919558	chr10:95595269-95595270	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs183635275	chr10:95595381-95595382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564331949	chr10:95595392-95595393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554889302	chr10:95595395-95595396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188483318	chr10:95595431-95595432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546982227	chr10:95595461-95595462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567116714	chr10:95595477-95595478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9787520	chr10:95595478-95595479	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs142004152	chr10:95595490-95595491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539417810	chr10:95595516-95595517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548938837	chr10:95595550-95595551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568890259	chr10:95595571-95595572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537079606	chr10:95595572-95595573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7912666	chr10:95595576-95595577	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs549888799	chr10:95595607-95595608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144409497	chr10:95595632-95595633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375097468	chr10:95595635-95595636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7913113	chr10:95595662-95595663	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs374257283	chr10:95595677-95595678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140144059	chr10:95595683-95595684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553797698	chr10:95595697-95595698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146625993	chr10:95595701-95595702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541887287	chr10:95595728-95595729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114099779	chr10:95595745-95595746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190823210	chr10:95595747-95595748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183105505	chr10:95595842-95595843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536086753	chr10:95595853-95595854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187830596	chr10:95595865-95595866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7913175	chr10:95595899-95595900	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs533359504	chr10:95595906-95595907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7913189	chr10:95595925-95595926	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs368331134	chr10:95595958-95595959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Sezary syndrome	18413736	CNVD
Intracranial aneurysm	16715129	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:95593600-95594800	Weak transcription	Pancreas	Pancrea
2	chr10:95594800-95595000	Enhancers	Pancreas	Pancrea
3	chr10:95594800-95599800	Enhancers	Fetal Intestine Large	intestine
4	chr10:95595000-95597200	Weak transcription	Pancreas	Pancrea
5	chr10:95595200-95599800	Enhancers	Fetal Intestine Small	intestine
6	chr10:95595400-95597000	Enhancers	Duodenum Mucosa	Duodenum
7	chr10:95596800-95597000	Enhancers	Small Intestine	intestine
8	chr10:95597000-95597400	Flanking Active TSS	Duodenum Mucosa	Duodenum
9	chr10:95597000-95598000	Weak transcription	Small Intestine	intestine
10	chr10:95597200-95598000	Enhancers	Colonic Mucosa	Colon
11	chr10:95597200-95598600	Enhancers	Pancreas	Pancrea
12	chr10:95597400-95599600	Enhancers	Duodenum Mucosa	Duodenum
13	chr10:95597600-95597800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
14	chr10:95597600-95598000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr10:95597600-95598000	Enhancers	Brain Germinal Matrix	brain
16	chr10:95597800-95598000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr10:95597800-95598200	Enhancers	Fetal Brain Female	brain
18	chr10:95598000-95598400	Enhancers	Small Intestine	intestine
19	chr10:95598000-95600800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr10:95598400-95601800	Weak transcription	Small Intestine	intestine
21	chr10:95600600-95600800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr10:95601400-95601800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr10:95601600-95601800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
24	chr10:95601800-95602000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr10:95601800-95602200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr10:95601800-95602800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr10:95601800-95603000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
28	chr10:95602000-95602200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
29	chr10:95602000-95602200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr10:95602000-95602200	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr10:95602000-95602400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
32	chr10:95602000-95602400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr10:95602000-95602400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
34	chr10:95602000-95602600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
35	chr10:95602000-95602600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr10:95602000-95602800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
37	chr10:95602000-95603000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
38	chr10:95602200-95602600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
39	chr10:95602400-95602600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
40	chr10:95602400-95602600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
41	chr10:95602400-95603000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
42	chr10:95602400-95603400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr10:95603400-95604000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr10:95608200-95611400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
45	chr10:95608400-95609000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
46	chr10:95608400-95609000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
47	chr10:95608400-95610400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
48	chr10:95608600-95608800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
49	chr10:95608600-95609200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr10:95608600-95609600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell

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