Variant report

Variant	nsv1021401
Chromosome Location	chr8:53727216-53817631
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	chr8:53784191..53786210-chr8:53800399..53802685,2	K562	blood:
2	chr8:53775937..53778409-chr8:53784460..53787182,3	MCF-7	breast:
3	chr8:53763900..53765944-chr8:53767253..53769124,2	MCF-7	breast:
4	chr8:53763900..53765944-chr8:53767253..53769124,2	MCF-7	breast:
5	chr8:53751467..53754365-chr8:53754550..53756405,2	MCF-7	breast:
6	chr8:53742398..53744549-chr8:53749329..53751637,2	K562	blood:
7	chr8:53742398..53744549-chr8:53749329..53751637,2	K562	blood:
8	chr14:88237597..88238206-chr8:53793496..53793998,3	MCF-7	breast:
9	chr8:53653974..53655794-chr8:53756951..53758784,2	MCF-7	breast:
10	chr8:53797993..53800966-chr8:53802377..53805640,4	K562	blood:
11	chr8:53805931..53807978-chr8:53816689..53818778,2	K562	blood:
12	chr8:53775937..53778409-chr8:53784460..53787182,3	MCF-7	breast:
13	chr8:53738269..53739834-chr8:53754081..53756709,2	MCF-7	breast:
14	chr8:53805931..53807978-chr8:53816689..53818778,2	K562	blood:
15	chr8:53742557..53744441-chr8:53753816..53756483,2	MCF-7	breast:
16	chr8:53784191..53786210-chr8:53800399..53802685,2	K562	blood:
17	chr8:53738269..53739834-chr8:53754081..53756709,2	MCF-7	breast:
18	chr8:53751467..53754365-chr8:53754550..53756405,2	MCF-7	breast:
19	chr8:53742557..53744441-chr8:53753816..53756483,2	MCF-7	breast:
20	chr8:53797993..53800966-chr8:53802377..53805640,4	K562	blood:

No data

Extended variants
information (count: 2272 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:2272 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574613977	chr8:53727223-53727224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113133842	chr8:53727269-53727270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541968680	chr8:53727272-53727273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201995746	chr8:53727276-53727277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182216257	chr8:53727295-53727296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs62501741	chr8:53727306-53727307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527293526	chr8:53727346-53727347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550997175	chr8:53727357-53727358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552106976	chr8:53727443-53727444	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565488988	chr8:53727510-53727511	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532833118	chr8:53727513-53727514	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13248877	chr8:53727578-53727579	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs569085751	chr8:53727617-53727618	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs186646258	chr8:53727621-53727622	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs190266758	chr8:53727668-53727669	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs182922588	chr8:53727685-53727686	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs188781823	chr8:53727707-53727708	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs558906872	chr8:53727818-53727819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577102381	chr8:53727836-53727837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192952137	chr8:53727915-53727916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556471137	chr8:53727934-53727935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574701607	chr8:53727939-53727940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185151011	chr8:53727964-53727965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78683424	chr8:53727974-53727975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149525613	chr8:53727977-53727978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545524538	chr8:53727994-53727995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564095525	chr8:53727998-53727999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs367783298	chr8:53728036-53728037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187939113	chr8:53728053-53728054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551276417	chr8:53728096-53728097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562806445	chr8:53728135-53728136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192349781	chr8:53728216-53728217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548325481	chr8:53728231-53728232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566670870	chr8:53728236-53728237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534289345	chr8:53728264-53728265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144148479	chr8:53728312-53728313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570848633	chr8:53728355-53728356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7846323	chr8:53728359-53728360	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs556506269	chr8:53728371-53728372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574739880	chr8:53728374-53728375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12335114	chr8:53728397-53728398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183957215	chr8:53728404-53728405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11292325	chr8:53728455-53728456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs397702037	chr8:53728462-53728463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188238437	chr8:53728474-53728475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545863528	chr8:53728515-53728516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143393580	chr8:53728523-53728524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7816691	chr8:53728563-53728564	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs192976164	chr8:53728572-53728573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557878377	chr8:53728579-53728580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Uveal melanoma	20484589	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21785460	CNVD
Colorectal cancer	21645411	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:317 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:53719400-53729000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:53725400-53730800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr8:53726600-53728200	Enhancers	H1 Cell Line	embryonic stem cell
4	chr8:53727200-53727400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr8:53727200-53727600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr8:53727200-53728200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr8:53727400-53727600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr8:53727400-53727800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr8:53727400-53728200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr8:53727400-53728200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr8:53727400-53728200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:53727400-53728400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:53727600-53727800	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr8:53727600-53728000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:53727600-53731200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr8:53727800-53728200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr8:53727800-53728200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr8:53727800-53728200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:53728200-53728400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr8:53728200-53730600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:53728200-53730800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr8:53728200-53730800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr8:53728200-53731000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr8:53728200-53731200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr8:53728200-53731400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr8:53728200-53738600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:53728400-53730800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:53728400-53731000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr8:53729000-53729200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:53729000-53729400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:53729000-53729600	Enhancers	Hela-S3	cervix
32	chr8:53729000-53729600	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr8:53729000-53729800	Enhancers	Liver	Liver
34	chr8:53729000-53729800	Enhancers	NHEK	skin
35	chr8:53729000-53731200	Enhancers	HMEC	breast
36	chr8:53729000-53739200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:53729200-53729600	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr8:53729200-53730200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:53729400-53730400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:53729600-53731600	Weak transcription	Hela-S3	cervix
41	chr8:53729800-53730200	Weak transcription	NHEK	skin
42	chr8:53729800-53732000	Weak transcription	Liver	Liver
43	chr8:53730200-53731000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:53730200-53731000	Enhancers	NHEK	skin
45	chr8:53730400-53731000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:53730600-53731200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:53730600-53732000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr8:53730800-53731800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:53730800-53732000	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr8:53730800-53732200	Enhancers	H9 Cell Line	embryonic stem cell

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