Variant report

Variant	nsv516471
Chromosome Location	chr10:94167087-94170851
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	chr10:94170765..94172396-chr10:94175532..94177910,2	K562	blood:

Extended variants
information (count: 168 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:168 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7084673	chr10:94167087-94167088	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145223930	chr10:94167108-94167109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573796934	chr10:94167133-94167134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569093305	chr10:94167155-94167156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538162604	chr10:94167213-94167214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557619232	chr10:94167214-94167215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557758444	chr10:94167219-94167220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573040274	chr10:94167224-94167225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542421102	chr10:94167225-94167226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs202119855	chr10:94167255-94167256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs57401133	chr10:94167256-94167257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375647878	chr10:94167261-94167262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs28668635	chr10:94167262-94167263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571429222	chr10:94167291-94167292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533631019	chr10:94167296-94167297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540006234	chr10:94167301-94167302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189562476	chr10:94167309-94167310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369167169	chr10:94167314-94167315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542248467	chr10:94167330-94167331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372897215	chr10:94167345-94167346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576635491	chr10:94167346-94167347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545689673	chr10:94167430-94167431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2265681	chr10:94167444-94167445	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs527929032	chr10:94167494-94167495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545310769	chr10:94167500-94167501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529311660	chr10:94167502-94167503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111507439	chr10:94167546-94167547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs180694947	chr10:94167550-94167551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561397306	chr10:94167573-94167574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373050558	chr10:94167574-94167575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186000758	chr10:94167579-94167580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549878662	chr10:94167609-94167610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs55712615	chr10:94167611-94167612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146529097	chr10:94167616-94167617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111723551	chr10:94167633-94167634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189624006	chr10:94167661-94167662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564505703	chr10:94167674-94167675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533763465	chr10:94167702-94167703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs59423705	chr10:94167738-94167739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547071674	chr10:94167754-94167755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566986212	chr10:94167757-94167758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144831031	chr10:94167787-94167788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555841300	chr10:94167791-94167792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576000547	chr10:94167806-94167807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376918591	chr10:94167816-94167817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2488794	chr10:94167817-94167818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2480303	chr10:94167868-94167869	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs138677814	chr10:94167907-94167908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138017828	chr10:94167949-94167950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368722830	chr10:94167959-94167960	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
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94165200-94170400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr10:94165600-94167200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:94166600-94168000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr10:94166600-94168000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr10:94166600-94168200	Enhancers	Placenta	Placenta
6	chr10:94166600-94168800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr10:94166800-94167200	Enhancers	H9 Cell Line	embryonic stem cell
8	chr10:94166800-94167200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr10:94166800-94167400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr10:94166800-94167400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr10:94166800-94167600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr10:94166800-94167600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr10:94166800-94167600	Enhancers	Esophagus	oesophagus
14	chr10:94166800-94167800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr10:94166800-94168000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr10:94166800-94168000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr10:94166800-94168000	Enhancers	NHEK	skin
18	chr10:94166800-94168200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr10:94166800-94169000	Enhancers	K562	blood
20	chr10:94166800-94169200	Enhancers	Hela-S3	cervix
21	chr10:94167000-94167400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr10:94167000-94167400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr10:94167000-94167600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr10:94167000-94167800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr10:94167000-94167800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr10:94167000-94167800	Enhancers	GM12878-XiMat	blood
27	chr10:94167000-94167800	Enhancers	HMEC	breast
28	chr10:94167200-94167800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr10:94167200-94167800	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr10:94167200-94168000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr10:94167400-94167800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr10:94167400-94167800	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr10:94168000-94170400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr10:94168200-94169600	Weak transcription	Placenta	Placenta
35	chr10:94168200-94170200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr10:94168800-94169800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr10:94169000-94170400	Weak transcription	K562	blood
38	chr10:94169600-94172200	Enhancers	Placenta	Placenta
39	chr10:94169800-94171000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr10:94170400-94170600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr10:94170400-94170800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr10:94170400-94170800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr10:94170400-94170800	Enhancers	K562	blood

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