Variant report

Variant	nsv1030068
Chromosome Location	chr5:49986171-50047352
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:49951519..49954288-chr5:49991653..49994102,2	MCF-7	breast:
2	chr5:50028364..50030290-chr5:50032967..50035142,2	MCF-7	breast:
3	chr5:49991835..49994360-chr5:50001240..50003912,3	MCF-7	breast:
4	chr5:49986640..49989197-chr5:50027826..50030637,2	MCF-7	breast:
5	chr5:49986640..49989197-chr5:50027826..50030637,2	MCF-7	breast:
6	chr5:50006825..50008981-chr5:50044133..50046032,2	MCF-7	breast:
7	chr5:50047039..50047540-chr5:50059663..50060514,2	MCF-7	breast:
8	chr5:49989186..49991048-chr5:49992537..49995314,2	MCF-7	breast:
9	chr5:49961597..49964689-chr5:50010010..50013411,3	MCF-7	breast:
10	chr5:49973996..49976524-chr5:49985360..49987243,2	MCF-7	breast:
11	chr5:50020188..50022113-chr5:50033665..50035934,2	MCF-7	breast:
12	chr5:49961882..49965349-chr5:50045163..50048230,3	MCF-7	breast:
13	chr5:49963990..49965571-chr5:49984249..49987060,2	MCF-7	breast:
14	chr5:49991835..49994360-chr5:50001240..50003912,3	MCF-7	breast:
15	chr5:50020188..50022113-chr5:50033665..50035934,2	MCF-7	breast:
16	chr21:38935799..38937565-chr5:50040178..50042178,2	MCF-7	breast:
17	chr5:49995029..49996581-chr5:50034174..50037169,2	MCF-7	breast:
18	chr5:50028364..50030290-chr5:50032967..50035142,2	MCF-7	breast:
19	chr5:49979801..49982370-chr5:49986606..49988193,2	MCF-7	breast:
20	chr5:49963253..49964833-chr5:49994223..49996003,2	MCF-7	breast:
21	chr5:49966970..49969642-chr5:50045524..50047649,2	MCF-7	breast:
22	chr5:49962390..49964059-chr5:50032146..50034760,2	MCF-7	breast:
23	chr5:50016696..50017644-chr6:27798793..27799338,2	NB4	blood:
24	chr5:50006825..50008981-chr5:50044133..50046032,2	MCF-7	breast:
25	chr5:49991654..49993183-chr5:49998534..50000135,2	MCF-7	breast:
26	chr5:49995029..49996581-chr5:50034174..50037169,2	MCF-7	breast:
27	chr5:49989186..49991048-chr5:49992537..49995314,2	MCF-7	breast:
28	chr5:49991654..49993183-chr5:49998534..50000135,2	MCF-7	breast:
29	chr5:49976617..49978344-chr5:49983964..49986828,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000197914	chromatin interactions
ENSG00000151883	chromatin interactions

Extended variants
information (count: 2121 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:2121 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534984428	chr5:49986310-49986311	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557972658	chr5:49986333-49986334	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577796995	chr5:49986351-49986352	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543530529	chr5:49986387-49986388	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563260242	chr5:49986404-49986405	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573645335	chr5:49986425-49986426	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs367641913	chr5:49986434-49986435	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535357349	chr5:49986441-49986442	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181019139	chr5:49986501-49986502	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372266648	chr5:49986595-49986596	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559344530	chr5:49986618-49986619	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141848281	chr5:49986638-49986639	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551691521	chr5:49986672-49986673	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561514748	chr5:49986687-49986688	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565105467	chr5:49986720-49986721	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185100561	chr5:49986725-49986726	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375237979	chr5:49986788-49986789	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189179140	chr5:49986813-49986814	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111983491	chr5:49986866-49986867	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535898448	chr5:49986896-49986897	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182190209	chr5:49987011-49987012	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565729728	chr5:49987065-49987066	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs58123942	chr5:49987086-49987087	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186863410	chr5:49987121-49987122	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558005129	chr5:49987131-49987132	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs13189104	chr5:49987141-49987142	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191719548	chr5:49987152-49987153	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183230139	chr5:49987171-49987172	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557487229	chr5:49987214-49987215	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573656673	chr5:49987218-49987219	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542703415	chr5:49987227-49987228	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553044457	chr5:49987257-49987258	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572860613	chr5:49987303-49987304	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77357862	chr5:49987325-49987326	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527613470	chr5:49987366-49987367	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565193792	chr5:49987378-49987379	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547284979	chr5:49987391-49987392	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570351254	chr5:49987403-49987404	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs57414942	chr5:49987417-49987418	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs544081480	chr5:49987479-49987480	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs2121977	chr5:49987481-49987482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs138028312	chr5:49987508-49987509	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs549052643	chr5:49987512-49987513	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs201649657	chr5:49987535-49987536	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs185871489	chr5:49987569-49987570	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs528486280	chr5:49987631-49987632	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs535519505	chr5:49987651-49987652	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs149593306	chr5:49987667-49987668	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs571750885	chr5:49987676-49987677	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs73098991	chr5:49987712-49987713	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:87)

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

Chromatin state (count:1429 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49968800-49990400	Weak transcription	Small Intestine	intestine
2	chr5:49976800-50000000	Weak transcription	Fetal Stomach	stomach
3	chr5:49977800-49990600	Weak transcription	Pancreas	Pancrea
4	chr5:49978200-49995000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:49979000-49995200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:49979400-50006600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:49980800-49995000	Weak transcription	Thymus	Thymus
8	chr5:49981400-49992600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr5:49982200-49986800	Weak transcription	Dnd41	blood
10	chr5:49982600-49987800	Strong transcription	Primary B cells from cord blood	blood
11	chr5:49982600-49992000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:49982800-49987200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:49982800-49997000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr5:49983000-49988000	Weak transcription	Fetal Thymus	thymus
15	chr5:49983000-49998800	Weak transcription	Lung	lung
16	chr5:49983200-49994200	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr5:49983400-49987000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr5:49983400-50006800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr5:49983800-49986800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:49984000-49986600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr5:49984000-49986800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr5:49984000-49986800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr5:49984000-49987200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:49984000-49988800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:49984200-49988200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr5:49984200-49988600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr5:49984800-49987000	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr5:49984800-49989000	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr5:49985000-49986800	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr5:49985200-49987600	Genic enhancers	Primary T cells from cord blood	blood
31	chr5:49985200-49987800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr5:49985400-49986600	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr5:49985600-49986200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr5:49985600-49986200	Weak transcription	GM12878-XiMat	blood
35	chr5:49985600-49986600	Genic enhancers	Monocytes-CD14+_RO01746	blood
36	chr5:49985600-49987200	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr5:49985600-49987800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr5:49985800-49987600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
39	chr5:49985800-49987800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr5:49985800-49988000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr5:49986000-49987800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr5:49986000-49988200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:49986000-50006600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr5:49986200-49986800	Strong transcription	GM12878-XiMat	blood
45	chr5:49986200-49987000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr5:49986600-49987200	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr5:49986600-49988000	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr5:49986600-49988400	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr5:49986800-49987000	Enhancers	Dnd41	blood
50	chr5:49986800-49987400	Genic enhancers	Primary T cells fromperipheralblood	blood

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