Variant report

Variant	nsv471632
Chromosome Location	chr5:99429213-99601670
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	chr5:99500941-99501405	GM12878	blood:	n/a	n/a
2	BACH1	chr5:99563415-99563480	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr5:99501068-99501408	GM12878	blood:	n/a	chr5:99501194-99501205
4	BATF	chr5:99432046-99432361	GM12878	blood:	n/a	n/a
5	BATF	chr5:99432041-99432354	GM12878	blood:	n/a	n/a
6	BATF	chr5:99501052-99501415	GM12878	blood:	n/a	chr5:99501194-99501205
7	BCL11A	chr5:99432032-99432400	GM12878	blood:	n/a	n/a
8	BCL11A	chr5:99501084-99501317	GM12878	blood:	n/a	n/a
9	BCL11A	chr5:99501044-99501395	GM12878	blood:	n/a	n/a
10	BCL3	chr5:99501083-99501319	GM12878	blood:	n/a	n/a
11	BCLAF1	chr5:99501079-99501347	GM12878	blood:	n/a	n/a
12	BCLAF1	chr5:99501053-99501362	GM12878	blood:	n/a	n/a
13	CBX3	chr5:99497665-99498015	HCT-116	colon:	n/a	n/a
14	CCNT2	chr5:99475755-99475914	K562	blood:	n/a	n/a
15	CEBPB	chr5:99524035-99524420	MCF-7	breast:	n/a	n/a
16	CEBPB	chr5:99524021-99524451	ECC-1	luminal epithelium:	n/a	n/a
17	CEBPB	chr5:99466058-99466322	K562	blood:	n/a	chr5:99466168-99466179
18	CEBPB	chr5:99524068-99524370	IMR90	lung:	n/a	n/a
19	CEBPB	chr5:99524051-99524404	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr5:99524038-99524345	A549	lung:	n/a	n/a
21	CEBPB	chr5:99594379-99594632	HepG2	liver:	n/a	n/a
22	CEBPB	chr5:99524062-99524391	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr5:99594367-99594637	K562	blood:	n/a	n/a
24	CEBPB	chr5:99524048-99524422	ECC-1	luminal epithelium:	n/a	n/a
25	CEBPB	chr5:99494768-99494900	HepG2	liver:	n/a	n/a
26	CEBPB	chr5:99465998-99466328	HepG2	liver:	n/a	chr5:99466168-99466179
27	CEBPB	chr5:99466071-99466271	H1-hESC	embryonic stem cell:	n/a	chr5:99466168-99466179
28	CEBPB	chr5:99459046-99459273	HepG2	liver:	n/a	chr5:99459170-99459181
29	CEBPB	chr5:99594381-99594614	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr5:99552430-99552649	HepG2	liver:	n/a	chr5:99552488-99552499
31	CEBPB	chr5:99471203-99471463	HepG2	liver:	n/a	chr5:99471302-99471313
32	CEBPB	chr5:99535758-99535912	HepG2	liver:	n/a	n/a
33	CEBPB	chr5:99594347-99594643	IMR90	lung:	n/a	n/a
34	CEBPB	chr5:99523928-99524503	MCF-7	breast:	n/a	n/a
35	CEBPB	chr5:99471191-99471449	A549	lung:	n/a	chr5:99471302-99471313
36	CEBPB	chr5:99465993-99466301	IMR90	lung:	n/a	chr5:99466168-99466179
37	CEBPB	chr5:99524070-99524414	HepG2	liver:	n/a	n/a
38	CEBPB	chr5:99465947-99466290	MCF-7	breast:	n/a	chr5:99466168-99466179
39	CEBPB	chr5:99466026-99466294	A549	lung:	n/a	chr5:99466168-99466179
40	CEBPB	chr5:99524041-99524419	A549	lung:	n/a	n/a
41	CEBPB	chr5:99524056-99524423	A549	lung:	n/a	n/a
42	CEBPB	chr5:99524073-99524398	K562	blood:	n/a	n/a
43	CEBPB	chr5:99594405-99594654	A549	lung:	n/a	n/a
44	CTCF	chr5:99580980-99581130	GM12874	blood:	n/a	n/a
45	CTCF	chr5:99501152-99501184	ProgFib	skin:	n/a	n/a
46	CTCF	chr5:99435838-99435954	Kidney_OC	kidney:	n/a	n/a
47	CTCF	chr5:99436216-99436313	Fibrobl	skin:	n/a	n/a
48	CTCF	chr5:99552195-99552240	GM13976	blood:	n/a	n/a
49	CTCF	chr5:99433226-99433342	MCF-7	breast:	n/a	n/a
50	CTCF	chr5:99494559-99494603	GM10248	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:99513584..99515520-chr5:99517082..99519600,2	MCF-7	breast:
2	chr5:99444286..99447276-chr5:99447518..99449591,2	MCF-7	breast:
3	chr5:99444286..99447276-chr5:99447518..99449591,2	MCF-7	breast:
4	chr5:99513584..99515520-chr5:99517082..99519600,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ST8SIA4-5	chr5:99583911-99584015	NONHSAT102996
2	lnc-ST8SIA4-5	chr5:99582989-99583463	NONHSAT102996

Variant related genes	Relation type
RNU6-1119P	TF binding region
GATAD2B	miRNA target sites

Extended variants
information (count: 1493 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1493 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529563461	chr5:99458241-99458242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs4429827	chr5:99458270-99458271	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs10070689	chr5:99458306-99458307	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs539433120	chr5:99458410-99458411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557932966	chr5:99458512-99458513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573128368	chr5:99458557-99458558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368986232	chr5:99458562-99458563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs13166539	chr5:99458572-99458573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370673961	chr5:99458643-99458644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190888710	chr5:99458669-99458670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372665745	chr5:99458693-99458694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183430956	chr5:99458702-99458703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs377119044	chr5:99458731-99458732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148934662	chr5:99458746-99458747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78865370	chr5:99458813-99458814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552832402	chr5:99458855-99458856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11241408	chr5:99458856-99458857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564393005	chr5:99458884-99458885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11947992	chr5:99458928-99458929	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs529333916	chr5:99458946-99458947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539725837	chr5:99458978-99458979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs59510702	chr5:99458981-99458982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564433347	chr5:99459049-99459050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112860186	chr5:99459074-99459075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531798546	chr5:99459145-99459146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114707667	chr5:99459193-99459194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562335929	chr5:99459282-99459283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529497689	chr5:99459328-99459329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4639189	chr5:99459371-99459372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78371322	chr5:99459375-99459376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114102948	chr5:99459390-99459391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77882665	chr5:99459416-99459417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569665180	chr5:99459445-99459446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73774575	chr5:99459462-99459463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145451131	chr5:99459513-99459514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562807952	chr5:99459571-99459572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4557376	chr5:99459598-99459599	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs552896128	chr5:99459623-99459624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577467643	chr5:99459627-99459628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35698260	chr5:99459667-99459668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545809332	chr5:99459697-99459698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78011361	chr5:99459701-99459702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35776117	chr5:99459717-99459718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188327657	chr5:99459719-99459720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs397882478	chr5:99459724-99459725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs193185176	chr5:99459751-99459752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562036402	chr5:99459756-99459757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574333650	chr5:99459810-99459811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566729275	chr5:99459841-99459842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182845043	chr5:99459877-99459878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99458200-99458600	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr5:99458400-99458800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr5:99458400-99458800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr5:99458400-99459000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr5:99458600-99459000	Enhancers	Fetal Brain Male	brain
6	chr5:99458800-99459000	Enhancers	Fetal Lung	lung
7	chr5:99459000-99459800	Weak transcription	Fetal Lung	lung
8	chr5:99459000-99460800	Weak transcription	Fetal Brain Male	brain
9	chr5:99459800-99461400	Enhancers	Fetal Lung	lung
10	chr5:99460800-99461400	Enhancers	Fetal Brain Male	brain
11	chr5:99461200-99461400	Enhancers	Fetal Kidney	kidney
12	chr5:99461400-99464000	Weak transcription	Fetal Kidney	kidney
13	chr5:99464000-99464200	Enhancers	Fetal Kidney	kidney
14	chr5:99464200-99465000	Weak transcription	Fetal Kidney	kidney
15	chr5:99465000-99466000	Enhancers	Fetal Kidney	kidney
16	chr5:99494000-99494800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:99503200-99503800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr5:99503200-99503800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr5:99503400-99503800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr5:99503400-99503800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr5:99503400-99503800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr5:99509800-99510200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:99510200-99510600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:99510600-99512200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:99510800-99511800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:99510800-99512000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:99512200-99517400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:99517600-99517800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:99521400-99523000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:99521600-99522800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:99521600-99523200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr5:99521800-99522400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:99521800-99522800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr5:99521800-99523000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:99521800-99523200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:99522000-99522400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr5:99542600-99543400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:99542800-99543200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:99543000-99543400	Active TSS	Fetal Lung	lung
40	chr5:99546200-99546600	Active TSS	Fetal Heart	heart
41	chr5:99558200-99559200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr5:99558200-99560400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:99564800-99567800	Weak transcription	Fetal Brain Male	brain
44	chr5:99567800-99568600	Enhancers	Fetal Brain Male	brain
45	chr5:99568000-99568600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:99568000-99569200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:99568200-99569000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr5:99568200-99569000	Enhancers	Fetal Brain Female	brain
49	chr5:99572200-99572600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr5:99572200-99572800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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