Variant report

Variant	esv3329014
Chromosome Location	chr5:29088244-29117762
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	chr5:29114649-29114850	K562	blood:	n/a	n/a
2	ATF1	chr5:29089739-29090287	K562	blood:	n/a	n/a
3	BATF	chr5:29099732-29100010	GM12878	blood:	n/a	n/a
4	BATF	chr5:29099772-29100098	GM12878	blood:	n/a	n/a
5	BHLHE40	chr5:29089838-29090224	K562	blood:	n/a	n/a
6	BHLHE40	chr5:29114706-29114820	K562	blood:	n/a	n/a
7	CCNT2	chr5:29089941-29090240	K562	blood:	n/a	n/a
8	CEBPB	chr5:29096216-29096495	Hela-S3	cervix:	n/a	chr5:29096332-29096343 chr5:29096327-29096344 chr5:29096330-29096343 chr5:29096332-29096341 chr5:29096332-29096341 chr5:29096332-29096341 chr5:29096332-29096341 chr5:29096330-29096341
9	CEBPB	chr5:29096209-29096500	HepG2	liver:	n/a	chr5:29096332-29096343 chr5:29096327-29096344 chr5:29096330-29096343 chr5:29096332-29096341 chr5:29096332-29096341 chr5:29096332-29096341 chr5:29096332-29096341 chr5:29096330-29096341
10	CEBPB	chr5:29096282-29096449	H1-hESC	embryonic stem cell:	n/a	chr5:29096332-29096343 chr5:29096327-29096344 chr5:29096330-29096343 chr5:29096332-29096341 chr5:29096332-29096341 chr5:29096332-29096341 chr5:29096332-29096341 chr5:29096330-29096341
11	CEBPB	chr5:29096184-29096509	IMR90	lung:	n/a	chr5:29096332-29096343 chr5:29096327-29096344 chr5:29096330-29096343 chr5:29096332-29096341 chr5:29096332-29096341 chr5:29096332-29096341 chr5:29096332-29096341 chr5:29096330-29096341
12	CEBPB	chr5:29096194-29096516	A549	lung:	n/a	chr5:29096332-29096343 chr5:29096327-29096344 chr5:29096330-29096343 chr5:29096332-29096341 chr5:29096332-29096341 chr5:29096332-29096341 chr5:29096332-29096341 chr5:29096330-29096341
13	CEBPB	chr5:29096172-29096477	K562	blood:	n/a	chr5:29096332-29096343 chr5:29096327-29096344 chr5:29096330-29096343 chr5:29096332-29096341 chr5:29096332-29096341 chr5:29096332-29096341 chr5:29096332-29096341 chr5:29096330-29096341
14	CHD1	chr5:29095636-29095675	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr5:29114366-29114830	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr5:29115340-29115490	BE2_C	brain:	n/a	n/a
17	CTCF	chr5:29106000-29106150	GM06990	blood:	n/a	n/a
18	CTCF	chr5:29115506-29115575	K562	blood:	n/a	n/a
19	CTCF	chr5:29093430-29093630	K562	blood:	n/a	n/a
20	CTCF	chr5:29115512-29115586	MCF-7	breast:	n/a	n/a
21	CTCF	chr5:29106085-29106127	GM10266	blood:	n/a	n/a
22	CTCF	chr5:29115508-29115587	MCF-7	breast:	n/a	n/a
23	CTCF	chr5:29115499-29115602	MCF-7	breast:	n/a	n/a
24	CTCF	chr5:29115472-29115646	Hela-S3	cervix:	n/a	n/a
25	CUX1	chr5:29089709-29090142	K562	blood:	n/a	n/a
26	E2F4	chr5:29107595-29107608	MCF10A-Er-Src	breast:	n/a	n/a
27	ELK1	chr5:29114442-29114450	Hela-S3	cervix:	n/a	n/a
28	EP300	chr5:29090086-29090156	K562	blood:	n/a	n/a
29	EP300	chr5:29099639-29100030	GM12878	blood:	n/a	n/a
30	EP300	chr5:29099823-29100001	GM12878	blood:	n/a	n/a
31	EP300	chr5:29114653-29114819	K562	blood:	n/a	n/a
32	FOS	chr5:29093252-29093447	HUVEC	blood vessel:	n/a	n/a
33	FOXP2	chr5:29114481-29114820	SK-N-MC	brain:	n/a	n/a
34	GATA2	chr5:29114582-29114857	K562	blood:	n/a	n/a
35	GATA2	chr5:29089775-29090203	K562	blood:	n/a	n/a
36	GTF2F1	chr5:29101640-29101643	K562	blood:	n/a	n/a
37	MAFK	chr5:29109852-29109923	Hela-S3	cervix:	n/a	n/a
38	MAFK	chr5:29107501-29107934	HepG2	liver:	n/a	n/a
39	MAFK	chr5:29107622-29107848	HepG2	liver:	n/a	n/a
40	MAX	chr5:29114504-29114694	Hela-S3	cervix:	n/a	n/a
41	MAX	chr5:29114918-29114921	Hela-S3	cervix:	n/a	n/a
42	MAZ	chr5:29114636-29114803	K562	blood:	n/a	n/a
43	MAZ	chr5:29114421-29114976	Hela-S3	cervix:	n/a	n/a
44	MXI1	chr5:29100277-29100321	GM12878	blood:	n/a	n/a
45	MYC	chr5:29090015-29090201	NB4	blood:	n/a	n/a
46	MYC	chr5:29097206-29097212	NB4	blood:	n/a	n/a
47	MYC	chr5:29107217-29107230	H1-hESC	embryonic stem cell:	n/a	n/a
48	MYC	chr5:29089701-29089741	NB4	blood:	n/a	n/a
49	MYC	chr5:29107144-29107181	H1-hESC	embryonic stem cell:	n/a	n/a
50	NFIC	chr5:29099682-29100093	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDH6-12	chr5:29105449-29105545	NONHSAT100833
2	lnc-CDH9-14	chr5:29105675-29106968	NONHSAT100834
3	lnc-CDH6-11	chr5:29106999-29107219	NONHSAT100835
4	lnc-CDH6-12	chr5:29104987-29105152	NONHSAT100833

Variant related genes	Relation type
ENSG00000270430	TF binding region
ENSG00000248687	TF binding region

Extended variants
information (count: 502 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:502 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540208311	chr5:29090203-29090204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564748261	chr5:29090262-29090263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573320737	chr5:29090305-29090306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373053809	chr5:29090319-29090320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562221169	chr5:29090333-29090334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377498910	chr5:29090356-29090357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144633009	chr5:29090376-29090377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188665081	chr5:29090377-29090378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554522125	chr5:29090413-29090414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550774365	chr5:29090416-29090417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562510973	chr5:29090422-29090423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532947564	chr5:29090427-29090428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376600656	chr5:29090496-29090497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559452508	chr5:29090502-29090503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs180800070	chr5:29090539-29090540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183773420	chr5:29090540-29090541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79690329	chr5:29090560-29090561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541260343	chr5:29095462-29095463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559997078	chr5:29095488-29095489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146069752	chr5:29095514-29095515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138866855	chr5:29095516-29095517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563703214	chr5:29095552-29095553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530915651	chr5:29095558-29095559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs57319851	chr5:29095583-29095584	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs564570256	chr5:29095589-29095590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115120897	chr5:29095590-29095591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560523428	chr5:29095638-29095639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371108059	chr5:29095647-29095648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs193967	chr5:29095648-29095649	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs190656106	chr5:29095667-29095668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10434568	chr5:29095681-29095682	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs181121652	chr5:29095690-29095691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568547175	chr5:29095763-29095764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549471395	chr5:29095792-29095793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539036024	chr5:29095802-29095803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557476025	chr5:29095815-29095816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185770356	chr5:29095835-29095836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142795534	chr5:29095853-29095854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553254413	chr5:29095860-29095861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575095829	chr5:29095905-29095906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189744509	chr5:29095924-29095925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542318318	chr5:29095933-29095934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575758225	chr5:29095944-29095945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546174010	chr5:29095945-29095946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs62352760	chr5:29095957-29095958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs76789262	chr5:29096004-29096005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs115262672	chr5:29096005-29096006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373839821	chr5:29096123-29096124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2220602	chr5:29096126-29096127	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs529069779	chr5:29096141-29096142	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Kartagener syndrome	16639409	CNVD
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
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29090200-29090600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr5:29095400-29095800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr5:29095600-29096000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr5:29095600-29096000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr5:29095800-29096200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:29097000-29097400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr5:29102600-29103600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:29105600-29106600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:29105800-29106600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr5:29106000-29106600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr5:29106200-29106600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:29107000-29107400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:29109200-29111200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:29111200-29112200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:29112200-29112600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:29112600-29113000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:29113000-29113800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:29113800-29114000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:29113800-29114000	Enhancers	Hela-S3	cervix
20	chr5:29114000-29114400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:29114000-29115000	Flanking Active TSS	Hela-S3	cervix
22	chr5:29114000-29115400	Enhancers	K562	blood
23	chr5:29114200-29114800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:29114400-29114800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:29114400-29116000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:29115000-29115600	Enhancers	Hela-S3	cervix
27	chr5:29116000-29116200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:29116200-29116400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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