Variant report

Variant	nsv1024631
Chromosome Location	chr5:41341979-41427953
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:41347520..41348251-chr5:41519488..41520504,4	MCF-7	breast:
2	chr5:41352607..41356227-chr5:41356337..41358216,4	MCF-7	breast:
3	chr5:41427684..41430292-chr5:41431881..41433813,2	K562	blood:
4	chr5:41415903..41418047-chr5:41420031..41421583,2	K562	blood:
5	chr5:40904574..40905604-chr5:41346513..41347365,3	MCF-7	breast:
6	chr5:41415119..41417531-chr5:41419550..41421583,3	K562	blood:
7	chr5:41415119..41417531-chr5:41419550..41421583,3	K562	blood:
8	chr5:41378475..41380792-chr5:41384904..41386684,2	K562	blood:
9	chr5:41372571..41374736-chr5:41376933..41378447,2	MCF-7	breast:
10	chr5:41352607..41356227-chr5:41356337..41358216,4	MCF-7	breast:
11	chr5:41284176..41286703-chr5:41413891..41416832,2	MCF-7	breast:
12	chr5:41372571..41374736-chr5:41376933..41378447,2	MCF-7	breast:
13	chr5:41358950..41361071-chr5:41361636..41364142,2	K562	blood:
14	chr5:41270300..41271189-chr5:41346492..41347094,2	MCF-7	breast:
15	chr5:41415903..41418047-chr5:41420031..41421583,2	K562	blood:
16	chr5:41378475..41380792-chr5:41384904..41386684,2	K562	blood:
17	chr5:41347768..41348307-chr5:41519600..41520181,3	MCF-7	breast:
18	chr5:41404307..41406613-chr5:41408825..41411220,2	MCF-7	breast:
19	chr5:41404307..41406613-chr5:41408825..41411220,2	MCF-7	breast:
20	chr5:41358950..41361071-chr5:41361636..41364142,2	K562	blood:

No data

Extended variants
information (count: 3345 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:3345 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575760365	chr5:41341984-41341985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543088765	chr5:41341985-41341986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114516578	chr5:41342047-41342048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550300992	chr5:41342063-41342064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567102375	chr5:41342065-41342066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573611207	chr5:41342076-41342077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34356575	chr5:41342153-41342154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540908506	chr5:41342193-41342194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565414721	chr5:41342237-41342238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142952308	chr5:41342249-41342250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555796999	chr5:41342260-41342261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575888063	chr5:41342292-41342293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544527369	chr5:41342293-41342294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544441281	chr5:41342314-41342315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78512712	chr5:41342364-41342365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529737921	chr5:41342385-41342386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547822621	chr5:41342398-41342399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190928391	chr5:41342417-41342418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553149047	chr5:41342433-41342434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527265063	chr5:41342467-41342468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4245978	chr5:41342472-41342473	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs182360489	chr5:41342482-41342483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570612753	chr5:41342534-41342535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148520631	chr5:41342536-41342537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538046321	chr5:41342596-41342597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372475727	chr5:41342602-41342603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556080130	chr5:41342653-41342654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2329604	chr5:41342664-41342665	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs560182714	chr5:41342686-41342687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534951765	chr5:41342699-41342700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs79569469	chr5:41342701-41342702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73075981	chr5:41342770-41342771	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs187027835	chr5:41342777-41342778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191762671	chr5:41342778-41342779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs578003143	chr5:41342836-41342837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577418715	chr5:41342885-41342886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs117260018	chr5:41342906-41342907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562733630	chr5:41342938-41342939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529773728	chr5:41342939-41342940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541546151	chr5:41342940-41342941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2054445	chr5:41342967-41342968	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs548925677	chr5:41343016-41343017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372938539	chr5:41343071-41343072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs79081818	chr5:41343087-41343088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531630431	chr5:41343127-41343128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551840399	chr5:41343157-41343158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570769273	chr5:41343253-41343254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531495360	chr5:41343295-41343296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551314581	chr5:41343367-41343368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549979565	chr5:41343422-41343423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Hepatocellular carcinoma	18929564	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:402 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41333800-41345800	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr5:41337400-41345400	Weak transcription	Right Atrium	heart
3	chr5:41341400-41350000	Weak transcription	Left Ventricle	heart
4	chr5:41341600-41343800	Weak transcription	Fetal Heart	heart
5	chr5:41341600-41348800	Weak transcription	Ovary	ovary
6	chr5:41343800-41346200	Enhancers	Fetal Heart	heart
7	chr5:41344200-41344600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:41345400-41345600	Enhancers	Right Atrium	heart
9	chr5:41345400-41345800	Enhancers	Brain Cingulate Gyrus	brain
10	chr5:41345800-41346800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr5:41345800-41348400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr5:41346200-41346600	Weak transcription	Fetal Heart	heart
13	chr5:41346600-41351000	Enhancers	Fetal Heart	heart
14	chr5:41346800-41347000	Enhancers	Brain Cingulate Gyrus	brain
15	chr5:41347600-41347800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:41347800-41349600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:41348400-41350000	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr5:41348800-41349000	Enhancers	Ovary	ovary
19	chr5:41349000-41349800	Weak transcription	Ovary	ovary
20	chr5:41349200-41350000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:41349600-41350200	Enhancers	Adipose Nuclei	Adipose
22	chr5:41349600-41350600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:41349800-41350200	Enhancers	Ovary	ovary
24	chr5:41350000-41350400	Enhancers	Left Ventricle	heart
25	chr5:41350200-41370000	Weak transcription	Ovary	ovary
26	chr5:41350400-41360800	Weak transcription	Left Ventricle	heart
27	chr5:41351000-41355200	Weak transcription	Fetal Heart	heart
28	chr5:41355200-41355800	Enhancers	Fetal Heart	heart
29	chr5:41355800-41356800	Weak transcription	Fetal Heart	heart
30	chr5:41356400-41357200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:41356800-41357400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr5:41356800-41358200	Enhancers	Fetal Heart	heart
33	chr5:41357000-41357400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr5:41357200-41357400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:41357200-41357600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:41357200-41362200	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr5:41357400-41371400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr5:41357600-41357800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:41357800-41358000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:41358200-41362800	Weak transcription	Fetal Heart	heart
41	chr5:41360200-41360400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:41360400-41361600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:41360800-41361200	Strong transcription	Left Ventricle	heart
44	chr5:41360800-41361400	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr5:41361000-41361400	Enhancers	H1 Cell Line	embryonic stem cell
46	chr5:41361000-41361600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr5:41361200-41361400	Enhancers	Right Ventricle	heart
48	chr5:41361200-41361600	ZNF genes & repeats	Esophagus	oesophagus
49	chr5:41361200-41361600	Genic enhancers	Left Ventricle	heart
50	chr5:41361400-41361800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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