Variant report

Variant	nsv902135
Chromosome Location	chr14:83583841-83725177
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	chr14:83686532..83688792-chr14:83690637..83692393,2	K562	blood:
2	chr14:83686532..83688792-chr14:83690637..83692393,2	K562	blood:

Extended variants
information (count: 3118 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:3118 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143296514	chr14:83590805-83590806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147117479	chr14:83590885-83590886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs56057076	chr14:83590896-83590897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35694108	chr14:83590897-83590898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143339452	chr14:83590902-83590903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs68193067	chr14:83590904-83590905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572402389	chr14:83590905-83590906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs397726419	chr14:83590912-83590913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12891358	chr14:83590913-83590914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542958202	chr14:83590915-83590916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12890399	chr14:83590917-83590918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377104326	chr14:83590927-83590928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561258282	chr14:83590953-83590954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373638391	chr14:83590965-83590966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543678060	chr14:83590985-83590986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565362653	chr14:83590996-83590997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138454649	chr14:83590999-83591000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547806413	chr14:83591025-83591026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143994546	chr14:83591045-83591046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376770344	chr14:83591084-83591085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530126539	chr14:83591085-83591086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576249425	chr14:83591100-83591101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567469169	chr14:83591133-83591134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144264540	chr14:83591205-83591206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568512482	chr14:83591227-83591228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549745817	chr14:83591360-83591361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs78207501	chr14:83591361-83591362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12590647	chr14:83591410-83591411	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs553343820	chr14:83591430-83591431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142316944	chr14:83591453-83591454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377616888	chr14:83591454-83591455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369438835	chr14:83591458-83591459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77292141	chr14:83591478-83591479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78255409	chr14:83591479-83591480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576681855	chr14:83591484-83591485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543971716	chr14:83591521-83591522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572999430	chr14:83591528-83591529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565384100	chr14:83591625-83591626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs17692603	chr14:83591673-83591674	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs551203446	chr14:83591680-83591681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148741084	chr14:83591689-83591690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141484169	chr14:83591690-83591691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185652713	chr14:83591717-83591718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530086879	chr14:83591729-83591730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150820903	chr14:83591802-83591803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139262337	chr14:83591843-83591844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143455505	chr14:83591846-83591847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549944998	chr14:83591847-83591848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571393470	chr14:83591862-83591863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs115223588	chr14:83591897-83591898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:202 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:83590800-83592200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr14:83591000-83591800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr14:83591000-83592000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr14:83591200-83591400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:83591200-83591800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr14:83591200-83592000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr14:83591200-83592400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr14:83591200-83593600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:83591400-83591800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:83591400-83593800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr14:83592600-83592800	Enhancers	Fetal Brain Male	brain
12	chr14:83592800-83595400	Weak transcription	Fetal Brain Male	brain
13	chr14:83593600-83593800	Enhancers	Fetal Brain Female	brain
14	chr14:83593600-83599000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:83593800-83594400	Enhancers	Fetal Kidney	kidney
16	chr14:83593800-83594600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr14:83593800-83594600	Weak transcription	Fetal Brain Female	brain
18	chr14:83594600-83595600	Enhancers	Fetal Brain Female	brain
19	chr14:83594600-83598800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr14:83595400-83596600	Enhancers	Fetal Brain Male	brain
21	chr14:83595600-83596000	Active TSS	Fetal Brain Female	brain
22	chr14:83596000-83596400	Enhancers	Fetal Brain Female	brain
23	chr14:83596400-83599000	Weak transcription	Fetal Brain Female	brain
24	chr14:83596600-83597000	Weak transcription	Fetal Brain Male	brain
25	chr14:83597000-83597600	Enhancers	Fetal Brain Male	brain
26	chr14:83597600-83599000	Weak transcription	Fetal Brain Male	brain
27	chr14:83598400-83598600	Enhancers	Brain Germinal Matrix	brain
28	chr14:83598800-83599200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr14:83598800-83600200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr14:83599000-83600600	Enhancers	H1 Cell Line	embryonic stem cell
31	chr14:83599000-83601400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr14:83599000-83601600	Enhancers	Fetal Brain Male	brain
33	chr14:83599000-83601600	Enhancers	Fetal Brain Female	brain
34	chr14:83599200-83599400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr14:83599200-83599600	Enhancers	Aorta	Aorta
36	chr14:83599200-83601200	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr14:83599400-83599600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr14:83599400-83599800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr14:83599600-83600400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr14:83599800-83600000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr14:83600000-83600200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr14:83600000-83601000	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr14:83600000-83601000	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr14:83600000-83601000	Enhancers	Fetal Heart	heart
45	chr14:83600200-83601000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr14:83600200-83601000	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr14:83600200-83604000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr14:83600400-83600800	Enhancers	Brain Germinal Matrix	brain
49	chr14:83600400-83601200	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr14:83600400-83601400	Enhancers	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links