Variant report

Variant	nsv980642
Chromosome Location	chr5:49739665-49754975
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr5:49741037-49741633	GM12878	blood:	n/a	n/a
2	BATF	chr5:49741178-49741409	GM12878	blood:	n/a	n/a
3	BATF	chr5:49741102-49741451	GM12878	blood:	n/a	n/a
4	BCL11A	chr5:49741064-49741463	GM12878	blood:	n/a	n/a
5	BCL11A	chr5:49741132-49741423	GM12878	blood:	n/a	n/a
6	BCLAF1	chr5:49741091-49741569	GM12878	blood:	n/a	n/a
7	BCLAF1	chr5:49741068-49741462	GM12878	blood:	n/a	n/a
8	CTCF	chr5:49749561-49749647	LNCaP	prostate:	n/a	n/a
9	EBF1	chr5:49741190-49741516	GM12878	blood:	n/a	n/a
10	EBF1	chr5:49741191-49741356	GM12878	blood:	n/a	n/a
11	EBF1	chr5:49741103-49741291	GM12878	blood:	n/a	n/a
12	EGR1	chr5:49741117-49741315	GM12878	blood:	n/a	n/a
13	EP300	chr5:49741144-49741478	GM12878	blood:	n/a	n/a
14	EP300	chr5:49741147-49741513	GM12878	blood:	n/a	n/a
15	EP300	chr5:49741158-49741476	GM12878	blood:	n/a	n/a
16	ETS1	chr5:49741103-49741455	GM12878	blood:	n/a	n/a
17	FOXA2	chr5:49754015-49754528	A549	lung:	n/a	n/a
18	FOXA2	chr5:49754250-49754531	A549	lung:	n/a	n/a
19	FOXM1	chr5:49741013-49741482	GM12878	blood:	n/a	n/a
20	FOXM1	chr5:49740865-49741596	GM12878	blood:	n/a	n/a
21	IKZF1	chr5:49741105-49741567	GM12878	blood:	n/a	n/a
22	IRF4	chr5:49741012-49741508	GM12878	blood:	n/a	n/a
23	IRF4	chr5:49741006-49741515	GM12878	blood:	n/a	n/a
24	MAFF	chr5:49744197-49744397	HepG2	liver:	n/a	chr5:49744265-49744283 chr5:49744240-49744258
25	MAFK	chr5:49744182-49744408	HepG2	liver:	n/a	n/a
26	MAFK	chr5:49744228-49744403	IMR90	lung:	n/a	n/a
27	MAFK	chr5:49743069-49743190	HepG2	liver:	n/a	n/a
28	MAFK	chr5:49744764-49744964	HepG2	liver:	n/a	chr5:49744834-49744849
29	MAFK	chr5:49744828-49744872	HepG2	liver:	n/a	chr5:49744834-49744849
30	MAX	chr5:49741314-49741452	NB4	blood:	n/a	n/a
31	MTA3	chr5:49741085-49741506	GM12878	blood:	n/a	n/a
32	MTA3	chr5:49741002-49741573	GM12878	blood:	n/a	n/a
33	NFIC	chr5:49740965-49741758	GM12878	blood:	n/a	n/a
34	NFIC	chr5:49741052-49741587	GM12878	blood:	n/a	n/a
35	NFYB	chr5:49747927-49748159	GM12878	blood:	n/a	n/a
36	NFYB	chr5:49747961-49748194	K562	blood:	n/a	n/a
37	NFYB	chr5:49744107-49744404	K562	blood:	n/a	n/a
38	NFYB	chr5:49744040-49744415	GM12878	blood:	n/a	n/a
39	PAX5	chr5:49741116-49741373	GM12891	blood:	n/a	chr5:49741234-49741253
40	PAX5	chr5:49741117-49741371	GM12892	blood:	n/a	chr5:49741234-49741253
41	PAX5	chr5:49741095-49741397	GM12878	blood:	n/a	chr5:49741234-49741253
42	PAX5	chr5:49741116-49741371	GM12892	blood:	n/a	chr5:49741234-49741253
43	PAX5	chr5:49741101-49741360	GM12878	blood:	n/a	chr5:49741234-49741253
44	PAX5	chr5:49741021-49741419	GM12878	blood:	n/a	chr5:49741234-49741253
45	PAX5	chr5:49741059-49741495	GM12878	blood:	n/a	chr5:49741234-49741253
46	PAX5	chr5:49741110-49741446	GM12891	blood:	n/a	chr5:49741234-49741253
47	PML	chr5:49741051-49741541	GM12878	blood:	n/a	n/a
48	POLR2A	chr5:49745344-49745478	ProgFib	skin:	n/a	n/a
49	POLR2A	chr5:49741115-49741579	HL-60	blood:	n/a	n/a
50	POLR2A	chr5:49743632-49743757	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:49736414..49737923-chr5:49740071..49742726,2	MCF-7	breast:

Variant related genes	Relation type
EMB	TF binding region
ENSG00000170571	chromatin interactions

Extended variants
information (count: 429 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376255510	chr5:49739763-49739764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556760478	chr5:49739830-49739831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576047149	chr5:49739865-49739866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs13157992	chr5:49739908-49739909	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs375544839	chr5:49739973-49739974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35906489	chr5:49740026-49740027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572041161	chr5:49740035-49740036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541045113	chr5:49740055-49740056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs430756	chr5:49740065-49740066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191738569	chr5:49740081-49740082	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs533293590	chr5:49740115-49740116	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs376856472	chr5:49740138-49740139	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs563542835	chr5:49740146-49740147	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs367896682	chr5:49740147-49740148	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs565513082	chr5:49740161-49740162	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs532593212	chr5:49740170-49740171	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs35030368	chr5:49740172-49740173	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs4082836	chr5:49740270-49740271	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs183572801	chr5:49740303-49740304	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs527662451	chr5:49740351-49740352	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs547413772	chr5:49740355-49740356	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs58951030	chr5:49740364-49740365	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs71612355	chr5:49740380-49740381	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs577549664	chr5:49740381-49740382	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs539781107	chr5:49740393-49740394	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs556588202	chr5:49740406-49740407	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs189557581	chr5:49740434-49740435	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs549029713	chr5:49740435-49740436	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs193090441	chr5:49740462-49740463	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs535690528	chr5:49740526-49740527	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs13174803	chr5:49740533-49740534	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs368075680	chr5:49740600-49740601	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs372247017	chr5:49740666-49740667	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs541006288	chr5:49740668-49740669	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs528438663	chr5:49740705-49740706	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs546577253	chr5:49740712-49740713	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs577993725	chr5:49740752-49740753	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs147395545	chr5:49740758-49740759	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs563441597	chr5:49740763-49740764	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs55760295	chr5:49740767-49740768	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs571421021	chr5:49740777-49740778	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs529059464	chr5:49740779-49740780	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs116191156	chr5:49740856-49740857	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs370006487	chr5:49740857-49740858	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs551066905	chr5:49740866-49740867	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs532649020	chr5:49740901-49740902	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs376744613	chr5:49740905-49740906	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs568979986	chr5:49740908-49740909	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs190436307	chr5:49740920-49740921	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs570472176	chr5:49740944-49740945	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49737600-49740800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr5:49737800-49740800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr5:49737800-49740800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr5:49737800-49740800	Weak transcription	GM12878-XiMat	blood
5	chr5:49737800-49741200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr5:49737800-49741400	Weak transcription	Thymus	Thymus
7	chr5:49738000-49740800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:49738000-49740800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:49738400-49740800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr5:49738600-49741400	Enhancers	Dnd41	blood
11	chr5:49739000-49739800	Weak transcription	Primary B cells from cord blood	blood
12	chr5:49739000-49740200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr5:49739000-49740400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr5:49739000-49740600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr5:49739000-49740600	Weak transcription	Primary T cells from cord blood	blood
16	chr5:49739200-49740200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr5:49739200-49740200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr5:49739200-49740400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr5:49739200-49740600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr5:49739200-49740600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr5:49739200-49740600	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr5:49739200-49740600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr5:49739200-49740600	Weak transcription	Fetal Thymus	thymus
24	chr5:49739200-49740800	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr5:49739200-49740800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr5:49739200-49741200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr5:49739200-49741400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr5:49739400-49740600	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr5:49739600-49740000	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr5:49739800-49741000	Enhancers	Primary B cells from cord blood	blood
31	chr5:49740000-49740800	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr5:49740200-49740800	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr5:49740200-49741000	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr5:49740200-49741200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr5:49740400-49741200	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr5:49740400-49743400	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr5:49740600-49741000	Enhancers	Primary T cells from cord blood	blood
38	chr5:49740600-49741200	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr5:49740600-49741200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr5:49740600-49741200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr5:49740600-49742000	Enhancers	Fetal Thymus	thymus
42	chr5:49740600-49742600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr5:49740600-49742800	Enhancers	Primary B cells from peripheral blood	blood
44	chr5:49740600-49744800	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr5:49740800-49741000	Enhancers	Primary T cells fromperipheralblood	blood
46	chr5:49740800-49741000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr5:49740800-49741200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr5:49740800-49741200	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr5:49740800-49741200	Enhancers	GM12878-XiMat	blood
50	chr5:49740800-49741600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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