Variant report

Variant	nsv882533
Chromosome Location	chr5:103556461-103632723
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:137)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:137 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr5:103582934-103583199	K562	blood:	n/a	n/a
2	CEBPB	chr5:103557803-103558074	HepG2	liver:	n/a	chr5:103557944-103557955
3	CEBPB	chr5:103612671-103612913	HepG2	liver:	n/a	chr5:103612792-103612801 chr5:103612790-103612801 chr5:103612792-103612803 chr5:103612792-103612801 chr5:103612792-103612803 chr5:103612790-103612803 chr5:103612792-103612801 chr5:103612792-103612801
4	CEBPB	chr5:103593790-103593850	HepG2	liver:	n/a	chr5:103593815-103593826
5	CEBPB	chr5:103612753-103612837	K562	blood:	n/a	chr5:103612792-103612801 chr5:103612790-103612801 chr5:103612792-103612803 chr5:103612792-103612801 chr5:103612792-103612803 chr5:103612790-103612803 chr5:103612792-103612801 chr5:103612792-103612801
6	CEBPB	chr5:103557837-103558073	A549	lung:	n/a	chr5:103557944-103557955
7	CTCF	chr5:103576840-103576990	GM12865	blood:	n/a	n/a
8	CTCF	chr5:103617403-103617468	Kidney_OC	kidney:	n/a	n/a
9	CTCF	chr5:103610622-103610722	GM20000	blood:	n/a	n/a
10	CTCF	chr5:103559980-103560130	HepG2	liver:	n/a	n/a
11	E2F4	chr5:103567653-103567853	MCF10A-Er-Src	breast:	n/a	n/a
12	E2F4	chr5:103627442-103627584	MCF10A-Er-Src	breast:	n/a	n/a
13	E2F4	chr5:103585798-103586100	MCF10A-Er-Src	breast:	n/a	n/a
14	E2F6	chr5:103625255-103625382	K562	blood:	n/a	n/a
15	EP300	chr5:103601493-103601928	MCF-7	breast:	n/a	n/a
16	EP300	chr5:103573258-103573725	SK-N-SH_RA	brain:	n/a	n/a
17	EP300	chr5:103573123-103574001	SK-N-SH	brain:	n/a	n/a
18	EP300	chr5:103573252-103573693	SK-N-SH_RA	brain:	n/a	n/a
19	EP300	chr5:103603017-103603335	SK-N-SH_RA	brain:	n/a	n/a
20	EP300	chr5:103613549-103613587	K562	blood:	n/a	n/a
21	EP300	chr5:103602804-103603856	SK-N-SH	brain:	n/a	chr5:103602903-103602917
22	FOS	chr5:103608926-103609113	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr5:103601859-103601938	MCF10A-Er-Src	breast:	n/a	n/a
24	FOXM1	chr5:103572989-103573919	SK-N-SH	brain:	n/a	n/a
25	GATA2	chr5:103602970-103603576	SH-SY5Y	brain:	n/a	n/a
26	GATA3	chr5:103583533-103584134	SK-N-SH	brain:	n/a	n/a
27	GATA3	chr5:103576243-103576780	SK-N-SH	brain:	n/a	n/a
28	GATA3	chr5:103602982-103603425	SH-SY5Y	brain:	n/a	n/a
29	GATA3	chr5:103583924-103583996	SH-SY5Y	brain:	n/a	n/a
30	GATA3	chr5:103576208-103576702	SK-N-SH	brain:	n/a	n/a
31	GATA3	chr5:103562774-103563409	MCF-7	breast:	n/a	n/a
32	GATA3	chr5:103572960-103574461	SK-N-SH	brain:	n/a	n/a
33	GATA3	chr5:103576396-103576468	SH-SY5Y	brain:	n/a	n/a
34	GATA3	chr5:103563089-103563334	SH-SY5Y	brain:	n/a	n/a
35	GATA3	chr5:103563160-103563365	MCF-7	breast:	n/a	n/a
36	GATA3	chr5:103573079-103574331	SK-N-SH	brain:	n/a	n/a
37	JUN	chr5:103609570-103609788	HepG2	liver:	n/a	chr5:103609608-103609621 chr5:103609612-103609621
38	JUN	chr5:103625464-103625634	H1-hESC	embryonic stem cell:	n/a	n/a
39	JUN	chr5:103623690-103624010	K562	blood:	n/a	n/a
40	JUN	chr5:103593840-103593863	HepG2	liver:	n/a	n/a
41	JUN	chr5:103593876-103593965	H1-hESC	embryonic stem cell:	n/a	chr5:103593900-103593909
42	JUND	chr5:103573158-103573761	SK-N-SH	brain:	n/a	n/a
43	JUND	chr5:103609483-103609801	HepG2	liver:	n/a	chr5:103609612-103609621
44	JUND	chr5:103573159-103573793	SK-N-SH	brain:	n/a	n/a
45	KAP1	chr5:103606852-103607354	K562	blood:	n/a	n/a
46	KAP1	chr5:103622797-103623222	K562	blood:	n/a	n/a
47	KAP1	chr5:103619627-103620042	K562	blood:	n/a	n/a
48	MAFF	chr5:103613086-103613310	HepG2	liver:	n/a	n/a
49	MAFF	chr5:103617535-103617658	K562	blood:	n/a	n/a
50	MAFF	chr5:103617583-103617738	HepG2	liver:	n/a	n/a

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:103619639..103621468-chr5:103623035..103624984,2	K562	blood:
2	chr5:103614351..103617259-chr5:103627051..103629322,2	K562	blood:
3	chr5:103614287..103617162-chr5:103624383..103626582,2	K562	blood:
4	chr5:103598709..103601053-chr5:103607200..103608906,2	K562	blood:
5	chr5:103619639..103621468-chr5:103623035..103624984,2	K562	blood:
6	chr5:103630146..103633049-chr5:103637946..103640879,3	K562	blood:
7	chr5:103614351..103617259-chr5:103627051..103629322,2	K562	blood:
8	chr16:4895983..4898171-chr5:103612146..103614008,2	MCF-7	breast:
9	chr5:103598709..103601053-chr5:103607200..103608906,2	K562	blood:
10	chr5:103580298..103582448-chr5:103583760..103585414,2	MCF-7	breast:
11	chr5:103574324..103576071-chr5:103577725..103579233,2	K562	blood:
12	chr5:103581733..103583397-chr5:103587148..103588917,2	MCF-7	breast:
13	chr5:103579485..103581978-chr5:103587465..103589014,2	MCF-7	breast:
14	chr5:103575723..103577605-chr5:103642604..103644571,2	K562	blood:
15	chr5:103574324..103576071-chr5:103577725..103579233,2	K562	blood:
16	chr5:103581733..103583397-chr5:103587148..103588917,2	MCF-7	breast:
17	chr5:103568513..103570154-chr5:103579261..103581624,2	K562	blood:
18	chr5:103614287..103617162-chr5:103624383..103626582,2	K562	blood:
19	chr5:103547602..103549522-chr5:103555358..103558237,2	K562	blood:
20	chr5:103568513..103570154-chr5:103579261..103581624,2	K562	blood:
21	chr5:103613010..103614607-chr5:103618160..103620311,2	MCF-7	breast:
22	chr5:103579485..103581978-chr5:103587465..103589014,2	MCF-7	breast:
23	chr5:103580298..103582448-chr5:103583760..103585414,2	MCF-7	breast:
24	chr5:103613010..103614607-chr5:103618160..103620311,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUDT12-12	chr5:103596234-103596527	NONHSAT103075

No data

Variant related genes	Relation type
RN7SL255P	TF binding region
ENSG00000118900	chromatin interactions
ENSG00000140632	chromatin interactions

Extended variants
information (count: 1512 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1512 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183743843	chr5:103569452-103569453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546480784	chr5:103569465-103569466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558851815	chr5:103569487-103569488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144056514	chr5:103569513-103569514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148657286	chr5:103569523-103569524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561098412	chr5:103569536-103569537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188991490	chr5:103569597-103569598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142925131	chr5:103569603-103569604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542670909	chr5:103569629-103569630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564674969	chr5:103569662-103569663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377708018	chr5:103569767-103569768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559166002	chr5:103569775-103569776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527715678	chr5:103572802-103572803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547767595	chr5:103572830-103572831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527513575	chr5:103572838-103572839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564811982	chr5:103572843-103572844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546816093	chr5:103572874-103572875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550401535	chr5:103572911-103572912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114971279	chr5:103572998-103572999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373429648	chr5:103573606-103573607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77977593	chr5:103573632-103573633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187933759	chr5:103573693-103573694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549543973	chr5:103573717-103573718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568070903	chr5:103573747-103573748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs527330547	chr5:103573817-103573818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192255781	chr5:103573846-103573847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142801833	chr5:103573930-103573931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369669427	chr5:103574006-103574007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539034005	chr5:103574014-103574015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571768490	chr5:103574033-103574034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537505329	chr5:103574039-103574040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79408784	chr5:103574071-103574072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535332109	chr5:103574108-103574109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185800733	chr5:103574112-103574113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76413390	chr5:103574113-103574114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541510206	chr5:103574136-103574137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558266630	chr5:103574142-103574143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115619072	chr5:103574157-103574158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147444192	chr5:103574160-103574161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563817474	chr5:103574174-103574175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371296876	chr5:103574175-103574176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563866897	chr5:103574241-103574242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529549140	chr5:103574244-103574245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542854999	chr5:103574249-103574250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574122395	chr5:103574283-103574284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541922927	chr5:103574318-103574319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139773703	chr5:103574319-103574320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1814041	chr5:103574324-103574325	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs190382059	chr5:103574361-103574362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570194112	chr5:103574367-103574368	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
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
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
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
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
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:103569400-103569800	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr5:103572800-103573000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:103573600-103575200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr5:103575200-103575600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:103575600-103577200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr5:103576200-103576800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:103576200-103577400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:103576400-103576600	Enhancers	Osteobl	bone
9	chr5:103576400-103576800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:103576400-103577200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:103576400-103577400	Enhancers	Colon Smooth Muscle	Colon
12	chr5:103576600-103577000	Enhancers	Adipose Nuclei	Adipose
13	chr5:103576600-103577000	Enhancers	Brain Germinal Matrix	brain
14	chr5:103576600-103577200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr5:103576600-103577200	Flanking Active TSS	Osteobl	bone
16	chr5:103576800-103577000	Enhancers	Placenta Amnion	Placenta Amnion
17	chr5:103576800-103577200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:103576800-103577200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:103576800-103577200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:103576800-103577200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr5:103576800-103577200	Enhancers	Fetal Brain Female	brain
22	chr5:103576800-103577200	Enhancers	Fetal Muscle Leg	muscle
23	chr5:103576800-103577200	Enhancers	Psoas Muscle	Psoas
24	chr5:103576800-103577200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr5:103576800-103577200	Enhancers	NHEK	skin
26	chr5:103576800-103577400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr5:103577200-103603200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:103587800-103588200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:103588000-103588400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr5:103588000-103588400	Enhancers	NHEK	skin
31	chr5:103600000-103600200	Enhancers	Fetal Kidney	kidney
32	chr5:103600600-103601000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:103600600-103603200	Weak transcription	Fetal Kidney	kidney
34	chr5:103601000-103601400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:103601000-103602200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr5:103601000-103602200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr5:103601000-103602400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr5:103601200-103601600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr5:103601200-103601800	Enhancers	H1 Cell Line	embryonic stem cell
40	chr5:103601200-103601800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr5:103601200-103601800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr5:103601400-103601800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr5:103601400-103602000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr5:103601400-103602000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr5:103601400-103602400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:103601400-103602400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr5:103601400-103603200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr5:103601400-103603600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:103601600-103601800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr5:103601600-103602000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links