Variant report

Variant	nsv598115
Chromosome Location	chr5:50017724-50063035
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:50028364..50030290-chr5:50032967..50035142,2	MCF-7	breast:
2	chr21:38935799..38937565-chr5:50040178..50042178,2	MCF-7	breast:
3	chr5:50047039..50047540-chr5:50059663..50060514,2	MCF-7	breast:
4	chr5:50028364..50030290-chr5:50032967..50035142,2	MCF-7	breast:
5	chr5:50020188..50022113-chr5:50033665..50035934,2	MCF-7	breast:
6	chr5:50048093..50049853-chr5:50051688..50054102,2	MCF-7	breast:
7	chr5:50006825..50008981-chr5:50044133..50046032,2	MCF-7	breast:
8	chr5:49986640..49989197-chr5:50027826..50030637,2	MCF-7	breast:
9	chr5:50020188..50022113-chr5:50033665..50035934,2	MCF-7	breast:
10	chr5:49966970..49969642-chr5:50045524..50047649,2	MCF-7	breast:
11	chr5:50059065..50062020-chr5:50078028..50080848,2	MCF-7	breast:
12	chr5:50047039..50047540-chr5:50059663..50060514,2	MCF-7	breast:
13	chr5:49962390..49964059-chr5:50032146..50034760,2	MCF-7	breast:
14	chr5:49959134..49960803-chr5:50062172..50064095,2	MCF-7	breast:
15	chr5:50062584..50065185-chr5:50073843..50077889,4	MCF-7	breast:
16	chr5:49995029..49996581-chr5:50034174..50037169,2	MCF-7	breast:
17	chr5:49961882..49965349-chr5:50045163..50048230,3	MCF-7	breast:
18	chr5:50048093..50049853-chr5:50051688..50054102,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000151883	chromatin interactions

Extended variants
information (count: 1681 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1681 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10461602	chr5:50017724-50017725	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs34232260	chr5:50017803-50017804	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs547614481	chr5:50017846-50017847	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs369789494	chr5:50017897-50017898	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs559781368	chr5:50017910-50017911	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs568245203	chr5:50017952-50017953	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs559005722	chr5:50018024-50018025	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs550610818	chr5:50018066-50018067	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs567507019	chr5:50018067-50018068	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs536106349	chr5:50018070-50018071	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs141246468	chr5:50018130-50018131	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs146949974	chr5:50018162-50018163	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs534811308	chr5:50018166-50018167	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs557794019	chr5:50018181-50018182	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs186005322	chr5:50018194-50018195	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs114540209	chr5:50018204-50018205	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs563871287	chr5:50018251-50018252	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs574265640	chr5:50018261-50018262	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs543277701	chr5:50018316-50018317	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs559964825	chr5:50018326-50018327	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs528669284	chr5:50018332-50018333	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs192166822	chr5:50018342-50018343	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs76565200	chr5:50018345-50018346	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs137911412	chr5:50018419-50018420	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs377181987	chr5:50018443-50018444	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs183376969	chr5:50018466-50018467	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs370430096	chr5:50018467-50018468	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs187311576	chr5:50018482-50018483	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs536534569	chr5:50018495-50018496	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs546420818	chr5:50018527-50018528	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs12188262	chr5:50018548-50018549	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs34653722	chr5:50018573-50018574	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs115456300	chr5:50018574-50018575	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs557831092	chr5:50018596-50018597	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs578045903	chr5:50018599-50018600	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs537089226	chr5:50018630-50018631	Enhancers Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs557306886	chr5:50018645-50018646	Enhancers Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs190653472	chr5:50018646-50018647	Enhancers Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs543365009	chr5:50018685-50018686	Enhancers Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs549649986	chr5:50018688-50018689	Enhancers Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs553668638	chr5:50018748-50018749	Enhancers Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs182516416	chr5:50018821-50018822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545572787	chr5:50018824-50018825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535610641	chr5:50018910-50018911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs115361875	chr5:50018911-50018912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564879593	chr5:50019011-50019012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188074320	chr5:50019049-50019050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76765537	chr5:50019056-50019057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543890870	chr5:50019059-50019060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576074353	chr5:50019276-50019277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
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
Cancer	16751803	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
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Autism	19492091	CNVD
Breast cancer	22522925	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Hodgkin''s lymphoma	17606441	CNVD

Chromatin state (count:907 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:50007200-50020200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr5:50007400-50022400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:50007400-50022400	Weak transcription	Gastric	stomach
4	chr5:50007600-50020200	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr5:50007800-50017800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr5:50007800-50020000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr5:50007800-50031000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr5:50009200-50023200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr5:50010200-50018200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:50011000-50020200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr5:50011400-50022400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:50013800-50021800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:50013800-50022400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr5:50013800-50022400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr5:50014400-50036000	Weak transcription	Primary B cells from cord blood	blood
16	chr5:50015600-50020200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr5:50016200-50018200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr5:50016400-50018200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr5:50016600-50017800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:50016600-50018200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr5:50016600-50018400	Weak transcription	Fetal Lung	lung
22	chr5:50016800-50018200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr5:50016800-50018200	Weak transcription	Esophagus	oesophagus
24	chr5:50016800-50018600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr5:50016800-50022200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:50016800-50022400	Weak transcription	Pancreas	Pancrea
27	chr5:50016800-50025400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:50016800-50025600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr5:50017000-50018200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr5:50017000-50018400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr5:50017000-50022400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:50017200-50018200	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr5:50017200-50018200	Weak transcription	Small Intestine	intestine
34	chr5:50017200-50018200	Enhancers	NHEK	skin
35	chr5:50017200-50018400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr5:50017200-50018800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr5:50017200-50022400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:50017200-50022400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr5:50017400-50017800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr5:50017400-50018200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr5:50017400-50018400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr5:50017400-50018400	Weak transcription	Primary T cells from cord blood	blood
43	chr5:50017600-50018000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr5:50017600-50022400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr5:50017800-50018200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr5:50017800-50018200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr5:50017800-50018800	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr5:50018000-50019400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr5:50018200-50018400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr5:50018200-50018400	Enhancers	Esophagus	oesophagus

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