Variant report

Variant	nsv1026460
Chromosome Location	chr5:29785485-29814309
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:180)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:180 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:29796089-29796615	K562	blood:	n/a	n/a
2	BACH1	chr5:29796249-29796518	K562	blood:	n/a	n/a
3	BHLHE40	chr5:29796156-29796515	K562	blood:	n/a	n/a
4	CBX3	chr5:29796135-29796512	K562	blood:	n/a	n/a
5	CBX3	chr5:29796149-29796424	K562	blood:	n/a	n/a
6	CCNT2	chr5:29796027-29796531	K562	blood:	n/a	n/a
7	CEBPB	chr5:29785594-29785960	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr5:29800832-29801015	H1-hESC	embryonic stem cell:	n/a	chr5:29800957-29800968
9	CEBPB	chr5:29800809-29801065	HepG2	liver:	n/a	chr5:29800957-29800968
10	CEBPB	chr5:29796077-29796461	K562	blood:	n/a	n/a
11	CEBPB	chr5:29800800-29801125	Hela-S3	cervix:	n/a	chr5:29800957-29800968
12	CEBPB	chr5:29800884-29801135	IMR90	lung:	n/a	chr5:29800957-29800968
13	CEBPB	chr5:29800755-29801131	HepG2	liver:	n/a	chr5:29800957-29800968
14	CEBPB	chr5:29800824-29801137	A549	lung:	n/a	chr5:29800957-29800968
15	CEBPB	chr5:29796069-29796496	K562	blood:	n/a	n/a
16	CEBPB	chr5:29800776-29801151	HepG2	liver:	n/a	chr5:29800957-29800968
17	CEBPB	chr5:29808679-29808926	HepG2	liver:	n/a	n/a
18	CEBPB	chr5:29800795-29801244	MCF-7	breast:	n/a	chr5:29800957-29800968
19	CEBPB	chr5:29788461-29788520	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr5:29800747-29801205	MCF-7	breast:	n/a	chr5:29800957-29800968
21	CEBPD	chr5:29796107-29796546	K562	blood:	n/a	n/a
22	CEBPD	chr5:29796098-29796635	K562	blood:	n/a	n/a
23	CEBPD	chr5:29800880-29801071	HepG2	liver:	n/a	n/a
24	CHD2	chr5:29796154-29796370	K562	blood:	n/a	n/a
25	CTCF	chr5:29812188-29812252	MCF-7	breast:	n/a	n/a
26	CTCF	chr5:29812111-29812347	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr5:29811926-29812437	MCF-7	breast:	n/a	n/a
28	CTCF	chr5:29812196-29812258	Gliobla	brain:	n/a	n/a
29	CTCF	chr5:29791008-29791041	MCF-7	breast:	n/a	n/a
30	CTCF	chr5:29796281-29796481	K562	blood:	n/a	n/a
31	CTCF	chr5:29812160-29812310	BE2_C	brain:	n/a	n/a
32	CTCF	chr5:29812080-29812230	BE2_C	brain:	n/a	n/a
33	CTCF	chr5:29812200-29812350	A549	lung:	n/a	n/a
34	CTCF	chr5:29812143-29812308	LNCaP	prostate:	n/a	n/a
35	CTCF	chr5:29812122-29812366	K562	blood:	n/a	n/a
36	CTCF	chr5:29812160-29812310	Caco-2	colon:	n/a	n/a
37	CTCF	chr5:29812140-29812290	Caco-2	colon:	n/a	n/a
38	CTCF	chr5:29812160-29812310	HRPEpiC	eye:	n/a	n/a
39	CTCF	chr5:29812060-29812210	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr5:29812164-29812284	LNCaP	prostate:	n/a	n/a
41	CTCF	chr5:29812120-29812270	HepG2	liver:	n/a	n/a
42	CTCF	chr5:29812069-29812342	MCF-7	breast:	n/a	n/a
43	CTCF	chr5:29811977-29812478	MCF-7	breast:	n/a	n/a
44	CTCF	chr5:29812140-29812290	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr5:29812071-29812293	HepG2	liver:	n/a	n/a
46	CTCF	chr5:29812144-29812244	MCF-7	breast:	n/a	n/a
47	CTCF	chr5:29796200-29796350	HA-sp	spinal cord:	n/a	n/a
48	CTCF	chr5:29812069-29812299	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr5:29812140-29812290	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chr5:29812120-29812270	HEK293	kidney:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:29784571..29787438-chr5:29789979..29792969,3	K562	blood:
2	chr5:29784571..29787438-chr5:29789979..29792969,3	K562	blood:
3	chr5:29720751..29721441-chr5:29812006..29812656,2	MCF-7	breast:
4	chr5:29367557..29368187-chr5:29811640..29812581,2	MCF-7	breast:
5	chr5:29787147..29790106-chr5:29792184..29794445,2	K562	blood:
6	chr5:29805693..29809011-chr5:29809552..29813804,3	MCF-7	breast:
7	chr5:29367263..29368784-chr5:29811787..29812627,6	MCF-7	breast:
8	chr5:29802968..29807767-chr5:29809670..29813095,5	MCF-7	breast:
9	chr5:29805693..29809011-chr5:29809552..29813804,3	MCF-7	breast:
10	chr5:29787147..29790106-chr5:29792184..29794445,2	K562	blood:
11	chr5:29785498..29787507-chr5:29789131..29791399,2	MCF-7	breast:
12	chr5:29785498..29787507-chr5:29789131..29791399,2	MCF-7	breast:
13	chr5:29802968..29807767-chr5:29809670..29813095,5	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDH6-8	chr5:29796045-29796375	NONHSAT100864

No data

Variant related genes	Relation type
ENSG00000250984	TF binding region

Extended variants
information (count: 791 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:791 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7705182	chr5:29785485-29785486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191756029	chr5:29785499-29785500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376622652	chr5:29785517-29785518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557792697	chr5:29785522-29785523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76242872	chr5:29785528-29785529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116473873	chr5:29785569-29785570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575461436	chr5:29785585-29785586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574059638	chr5:29785605-29785606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575239766	chr5:29785620-29785621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542540305	chr5:29785623-29785624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563915246	chr5:29785641-29785642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183839260	chr5:29785665-29785666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543321370	chr5:29785675-29785676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374171364	chr5:29785679-29785680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186623876	chr5:29785686-29785687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375272393	chr5:29785688-29785689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564574587	chr5:29785700-29785701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372203937	chr5:29785706-29785707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1463414	chr5:29785725-29785726	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs1563510	chr5:29785776-29785777	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs142218166	chr5:29785797-29785798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561722779	chr5:29785799-29785800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs70948585	chr5:29785800-29785801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201280001	chr5:29785801-29785802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111352687	chr5:29785802-29785803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568719186	chr5:29785807-29785808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76290254	chr5:29785846-29785847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79175214	chr5:29785881-29785882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566596631	chr5:29785910-29785911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533631395	chr5:29785912-29785913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555391329	chr5:29785913-29785914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567263832	chr5:29785939-29785940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13184775	chr5:29785999-29786000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536168034	chr5:29786029-29786030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559307513	chr5:29786045-29786046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545924942	chr5:29786088-29786089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145652844	chr5:29786096-29786097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144362439	chr5:29786124-29786125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10055152	chr5:29786126-29786127	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs528323384	chr5:29786135-29786136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541451209	chr5:29786144-29786145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148114693	chr5:29786201-29786202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150619197	chr5:29786207-29786208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149691388	chr5:29786208-29786209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200748691	chr5:29786209-29786210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529207512	chr5:29786238-29786239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12653072	chr5:29786239-29786240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs13165019	chr5:29786292-29786293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562409152	chr5:29786293-29786294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533062524	chr5:29786323-29786324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	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
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	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
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20409316	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29781200-29788400	Weak transcription	HepG2	liver
2	chr5:29785200-29785600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:29785200-29785600	Enhancers	Fetal Intestine Small	intestine
4	chr5:29785400-29787800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:29788400-29789000	Enhancers	HepG2	liver
6	chr5:29794200-29794600	Enhancers	Fetal Intestine Small	intestine
7	chr5:29794200-29795000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:29794400-29794600	Enhancers	K562	blood
9	chr5:29794400-29795200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr5:29794400-29796600	Enhancers	A549	lung
11	chr5:29794600-29796000	Weak transcription	K562	blood
12	chr5:29795000-29795400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:29795000-29795400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr5:29795000-29796600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr5:29795000-29797000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:29795200-29795600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr5:29795200-29796000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:29795200-29796600	Enhancers	Hela-S3	cervix
19	chr5:29795400-29795800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr5:29795400-29796200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:29795400-29796400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:29795800-29796600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr5:29796000-29796200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr5:29796000-29796400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr5:29796000-29796400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:29796000-29796400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:29796000-29796400	Flanking Active TSS	K562	blood
28	chr5:29796200-29796400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:29796400-29796600	Enhancers	K562	blood
30	chr5:29796400-29801000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:29800400-29801400	Enhancers	HepG2	liver
32	chr5:29801000-29801400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:29811800-29812200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:29812200-29814800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links