Variant report

Variant	nsv599234
Chromosome Location	chr5:104426955-104482358
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	ATF1	chr5:104475478-104475496	K562	blood:	n/a	n/a
2	CBX3	chr5:104428357-104428592	K562	blood:	n/a	n/a
3	CEBPB	chr5:104475600-104475772	HepG2	liver:	n/a	n/a
4	CEBPB	chr5:104437345-104437662	A549	lung:	n/a	chr5:104437523-104437534 chr5:104437523-104437532 chr5:104437523-104437532 chr5:104437521-104437534 chr5:104437521-104437532 chr5:104437523-104437532 chr5:104437523-104437532
5	CEBPB	chr5:104437422-104437706	ECC-1	luminal epithelium:	n/a	chr5:104437523-104437534 chr5:104437523-104437532 chr5:104437523-104437532 chr5:104437521-104437534 chr5:104437521-104437532 chr5:104437523-104437532 chr5:104437523-104437532
6	CEBPB	chr5:104432081-104432193	HepG2	liver:	n/a	n/a
7	CEBPB	chr5:104437342-104437690	HepG2	liver:	n/a	chr5:104437523-104437534 chr5:104437523-104437532 chr5:104437523-104437532 chr5:104437521-104437534 chr5:104437521-104437532 chr5:104437523-104437532 chr5:104437523-104437532
8	CEBPB	chr5:104437346-104437647	K562	blood:	n/a	chr5:104437523-104437534 chr5:104437523-104437532 chr5:104437523-104437532 chr5:104437521-104437534 chr5:104437521-104437532 chr5:104437523-104437532 chr5:104437523-104437532
9	CEBPB	chr5:104437342-104437688	Hela-S3	cervix:	n/a	chr5:104437523-104437534 chr5:104437523-104437532 chr5:104437523-104437532 chr5:104437521-104437534 chr5:104437521-104437532 chr5:104437523-104437532 chr5:104437523-104437532
10	CEBPB	chr5:104437246-104437795	MCF-7	breast:	n/a	chr5:104437523-104437534 chr5:104437523-104437532 chr5:104437523-104437532 chr5:104437521-104437534 chr5:104437521-104437532 chr5:104437523-104437532 chr5:104437523-104437532
11	CEBPB	chr5:104437340-104437708	ECC-1	luminal epithelium:	n/a	chr5:104437523-104437534 chr5:104437523-104437532 chr5:104437523-104437532 chr5:104437521-104437534 chr5:104437521-104437532 chr5:104437523-104437532 chr5:104437523-104437532
12	CEBPB	chr5:104437313-104437709	MCF-7	breast:	n/a	chr5:104437523-104437534 chr5:104437523-104437532 chr5:104437523-104437532 chr5:104437521-104437534 chr5:104437521-104437532 chr5:104437523-104437532 chr5:104437523-104437532
13	CEBPB	chr5:104437386-104437647	IMR90	lung:	n/a	chr5:104437523-104437534 chr5:104437523-104437532 chr5:104437523-104437532 chr5:104437521-104437534 chr5:104437521-104437532 chr5:104437523-104437532 chr5:104437523-104437532
14	CEBPB	chr5:104475627-104475670	K562	blood:	n/a	n/a
15	CEBPB	chr5:104475581-104475765	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr5:104434155-104434241	GM10248	blood:	n/a	n/a
17	CTCF	chr5:104471340-104471490	HEK293	kidney:	n/a	n/a
18	CTCF	chr5:104448719-104448771	LNCaP	prostate:	n/a	n/a
19	CTCF	chr5:104471360-104471510	BE2_C	brain:	n/a	n/a
20	CTCF	chr5:104471380-104471530	BE2_C	brain:	n/a	n/a
21	E2F4	chr5:104445215-104445427	MCF10A-Er-Src	breast:	n/a	n/a
22	E2F4	chr5:104457846-104457897	MCF10A-Er-Src	breast:	n/a	n/a
23	E2F4	chr5:104474409-104474580	MCF10A-Er-Src	breast:	n/a	n/a
24	E2F4	chr5:104480137-104480224	MCF10A-Er-Src	breast:	n/a	n/a
25	E2F4	chr5:104454303-104454460	MCF10A-Er-Src	breast:	n/a	n/a
26	EP300	chr5:104440417-104441093	MCF-7	breast:	n/a	chr5:104440714-104440724
27	EP300	chr5:104459435-104459684	SK-N-SH_RA	brain:	n/a	n/a
28	EP300	chr5:104459190-104459771	SK-N-SH	brain:	n/a	n/a
29	FOS	chr5:104471540-104471774	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr5:104474735-104475464	MCF10A-Er-Src	breast:	n/a	chr5:104475167-104475176 chr5:104474905-104474912
31	FOS	chr5:104436642-104436861	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr5:104431025-104431134	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr5:104474798-104475076	MCF10A-Er-Src	breast:	n/a	chr5:104474905-104474912
34	FOS	chr5:104474762-104475483	MCF10A-Er-Src	breast:	n/a	chr5:104475167-104475176 chr5:104474905-104474912
35	FOS	chr5:104471540-104471776	MCF10A-Er-Src	breast:	n/a	n/a
36	FOXM1	chr5:104440257-104441173	MCF-7	breast:	n/a	n/a
37	GATA3	chr5:104440323-104441524	MCF-7	breast:	n/a	chr5:104440654-104440663 chr5:104440757-104440778 chr5:104441346-104441358 chr5:104441347-104441357 chr5:104440555-104440564
38	GATA3	chr5:104443366-104443662	SH-SY5Y	brain:	n/a	n/a
39	GATA3	chr5:104468653-104468894	MCF-7	breast:	n/a	n/a
40	GATA3	chr5:104468665-104468859	SH-SY5Y	brain:	n/a	n/a
41	GATA3	chr5:104440108-104441590	MCF-7	breast:	n/a	chr5:104440654-104440663 chr5:104440757-104440778 chr5:104441346-104441358 chr5:104441347-104441357 chr5:104440555-104440564
42	GATA3	chr5:104468335-104469211	MCF-7	breast:	n/a	chr5:104468570-104468580
43	GATA3	chr5:104440318-104440964	MCF-7	breast:	n/a	chr5:104440654-104440663 chr5:104440757-104440778 chr5:104440555-104440564
44	GATA3	chr5:104440381-104441550	MCF-7	breast:	n/a	chr5:104440654-104440663 chr5:104440757-104440778 chr5:104441346-104441358 chr5:104441347-104441357 chr5:104440555-104440564
45	GATA3	chr5:104468366-104469009	MCF-7	breast:	n/a	chr5:104468570-104468580
46	GATA3	chr5:104459282-104459774	SH-SY5Y	brain:	n/a	chr5:104459616-104459624 chr5:104459563-104459573 chr5:104459636-104459645 chr5:104459602-104459609
47	HCFC1	chr5:104458276-104458316	K562	blood:	n/a	n/a
48	JUN	chr5:104463913-104463922	H1-hESC	embryonic stem cell:	n/a	n/a
49	JUND	chr5:104440460-104440915	MCF-7	breast:	n/a	chr5:104440652-104440663 chr5:104440784-104440793
50	JUND	chr5:104430917-104431144	HepG2	liver:	n/a	chr5:104431059-104431070

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:104434827-104434877	GM06990	blood:	n/a
2	chr5:104434827-104434877	GM06990	blood:	n/a
3	chr5:104434864-104434914	PANC-1	pancreas:	n/a
4	chr5:104434827-104434877	CMK	blood:	n/a
5	chr5:104434864-104434914	HEK293	kidney:	embryo
6	chr5:104435608-104435658	PANC-1	pancreas:	n/a
7	chr5:104435608-104435658	HRCEpiC	kidney:	n/a
8	chr5:104434827-104434877	HRCEpiC	kidney:	n/a
9	chr5:104435608-104435658	SAEC	small airway:	n/a
10	chr5:104434864-104434914	U87	brain:	n/a
11	chr5:104434827-104434877	GM19239	blood:	n/a
12	chr5:104435062-104435112	HRPEpiC	eye:	n/a
13	chr5:104433849-104433899	SKMC	muscle:	n/a
14	chr5:104435608-104435658	Hepatocyte	liver:	n/a
15	chr5:104435062-104435112	AoSMC	blood vessel:	n/a
16	chr5:104433849-104433899	Hela-S3	cervix:	n/a
17	chr5:104435062-104435112	PANC-1	pancreas:	n/a
18	chr5:104435608-104435658	AG09309	skin:	n/a
19	chr5:104434827-104434877	AG04450	lung:	fetal
20	chr5:104433849-104433899	Jurkat	blood:	n/a
21	chr5:104435608-104435658	HPAEpiC	pulmonary alveolar:	n/a
22	chr5:104434864-104434914	PrEC	prostate:	n/a
23	chr5:104433849-104433899	HL-60	blood:	n/a
24	chr5:104434864-104434914	HRE	kidney:	n/a
25	chr5:104434827-104434877	HL-60	blood:	n/a
26	chr5:104435062-104435112	AG04450	lung:	fetal
27	chr5:104434827-104434877	HUVEC	blood vessel:	n/a
28	chr5:104435062-104435112	HRE	kidney:	n/a
29	chr5:104435608-104435658	HEK293	kidney:	embryo
30	chr5:104433849-104433899	HEEpiC	esophagus:	n/a
31	chr5:104435608-104435658	NT2-D1	testis:	n/a
32	chr5:104435608-104435658	HAEpiC	amniotic membrane:	n/a
33	chr5:104434864-104434914	NH-A	brain:	n/a
34	chr5:104434864-104434914	HRPEpiC	eye:	n/a
35	chr5:104435608-104435658	HEEpiC	esophagus:	n/a
36	chr5:104435608-104435658	GM12892	blood:	n/a
37	chr5:104434827-104434877	NH-A	brain:	n/a
38	chr5:104433849-104433899	HCF	heart:	n/a
39	chr5:104435062-104435112	HCM	heart:	n/a
40	chr5:104434827-104434877	AG09319	gingival:	n/a
41	chr5:104433849-104433899	GM12891	blood:	n/a
42	chr5:104435608-104435658	GM06990	blood:	n/a
43	chr5:104433849-104433899	PrEC	prostate:	n/a
44	chr5:104433849-104433899	SK-N-SH	brain:	n/a
45	chr5:104435062-104435112	PrEC	prostate:	n/a
46	chr5:104433849-104433899	H1-hESC	embryonic stem cell:	embryo
47	chr5:104435062-104435112	NHDF-neo	bronchial:	n/a
48	chr5:104435608-104435658	SK-N-SH_RA	brain:	n/a
49	chr5:104433849-104433899	GM12892	blood:	n/a
50	chr5:104435608-104435658	HCM	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:104423554..104425423-chr5:104426738..104428780,3	K562	blood:
2	chr5:104454743..104457659-chr5:104458109..104460411,2	MCF-7	breast:
3	chr5:104443161..104444832-chr5:104444978..104447101,2	MCF-7	breast:
4	chr5:104438251..104441149-chr5:104441695..104444269,2	K562	blood:
5	chr5:104438251..104441149-chr5:104441695..104444269,2	K562	blood:
6	chr5:104443161..104444832-chr5:104444978..104447101,2	MCF-7	breast:
7	chr5:104454743..104457659-chr5:104458109..104460411,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C5orf30-8	chr5:104435175-104435799	NR_000039
2	lnc-C5orf30-8	chr5:104435174-104435799	NONHSAT103096

Variant related genes	Relation type
RAB9BP1	TF binding region
RAB9BP1	CpG island

Extended variants
information (count: 364 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:364 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4360015	chr5:104426955-104426956	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145442990	chr5:104426982-104426983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11952778	chr5:104427063-104427064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370036016	chr5:104427119-104427120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7732128	chr5:104427125-104427126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547274798	chr5:104427127-104427128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113132616	chr5:104427153-104427154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533016745	chr5:104427155-104427156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550397796	chr5:104427163-104427164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563017780	chr5:104427181-104427182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190313965	chr5:104427328-104427329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536183204	chr5:104427342-104427343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555766070	chr5:104427366-104427367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150542591	chr5:104427390-104427391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534726238	chr5:104427423-104427424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558094096	chr5:104427428-104427429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577721007	chr5:104427432-104427433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs60447614	chr5:104427443-104427444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537145458	chr5:104427450-104427451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs397998913	chr5:104427451-104427452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555981310	chr5:104427486-104427487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527738845	chr5:104427493-104427494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531824107	chr5:104427540-104427541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78323627	chr5:104427548-104427549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35571400	chr5:104427550-104427551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192564547	chr5:104427564-104427565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561856040	chr5:104427569-104427570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376779263	chr5:104427600-104427601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572269298	chr5:104427639-104427640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540679153	chr5:104427708-104427709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564021565	chr5:104427728-104427729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533104435	chr5:104427730-104427731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549890157	chr5:104427731-104427732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369372372	chr5:104427759-104427760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139445530	chr5:104427766-104427767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529488355	chr5:104427781-104427782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549523518	chr5:104427802-104427803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566254859	chr5:104427803-104427804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535278136	chr5:104427840-104427841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547598517	chr5:104427845-104427846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571298565	chr5:104427858-104427859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372879332	chr5:104427859-104427860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183680637	chr5:104427932-104427933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116832236	chr5:104427951-104427952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535305538	chr5:104427968-104427969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188298011	chr5:104428014-104428015	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs6596600	chr5:104428031-104428032	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs181115970	chr5:104428056-104428057	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs564109089	chr5:104428063-104428064	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs577693316	chr5:104428071-104428072	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Obesity	20622171	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104425000-104428000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:104428000-104428200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:104437400-104438000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr5:104446800-104447200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr5:104451200-104451400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:104453600-104455000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr5:104459600-104460200	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr5:104468200-104468800	Enhancers	Brain Germinal Matrix	brain
9	chr5:104469400-104470600	Enhancers	Liver	Liver
10	chr5:104472600-104473200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:104473200-104474200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:104474200-104474400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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