Variant report

Variant	nsv427715
Chromosome Location	chr5:29025791-29075095
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	ARID3A	chr5:29070987-29071060	K562	blood:	n/a	n/a
2	CCNT2	chr5:29051731-29051997	K562	blood:	n/a	chr5:29051832-29051852
3	CEBPB	chr5:29040539-29040883	IMR90	lung:	n/a	chr5:29040710-29040721
4	CEBPB	chr5:29040539-29040883	HepG2	liver:	n/a	chr5:29040710-29040721
5	CEBPB	chr5:29040534-29040845	A549	lung:	n/a	chr5:29040710-29040721
6	CEBPB	chr5:29040551-29040876	K562	blood:	n/a	chr5:29040710-29040721
7	CEBPB	chr5:29072750-29072805	HepG2	liver:	n/a	chr5:29072772-29072783
8	CEBPB	chr5:29037785-29038205	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr5:29025866-29026131	HepG2	liver:	n/a	chr5:29026021-29026032
10	CHD1	chr5:29048762-29048773	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr5:29048280-29048430	HCM	heart:	n/a	n/a
12	CTCF	chr5:29074577-29074605	Lung_OC	lung:	n/a	n/a
13	CTCF	chr5:29047737-29047775	Fibrobl	skin:	n/a	n/a
14	CTCF	chr5:29036907-29036942	Lung_OC	lung:	n/a	n/a
15	E2F4	chr5:29043880-29044147	MCF10A-Er-Src	breast:	n/a	n/a
16	E2F4	chr5:29054908-29055280	MCF10A-Er-Src	breast:	n/a	n/a
17	EP300	chr5:29030359-29030522	K562	blood:	n/a	n/a
18	EP300	chr5:29037857-29038154	Hela-S3	cervix:	n/a	n/a
19	FOS	chr5:29037819-29038179	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr5:29037800-29038217	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr5:29037769-29038188	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr5:29054538-29055201	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr5:29054875-29055203	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr5:29037779-29038393	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr5:29054518-29055183	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr5:29054449-29055206	MCF10A-Er-Src	breast:	n/a	n/a
27	FOXA1	chr5:29068731-29069068	HepG2	liver:	n/a	n/a
28	GATA3	chr5:29045542-29045738	SH-SY5Y	brain:	n/a	chr5:29045638-29045648 chr5:29045707-29045718
29	GTF2F1	chr5:29028871-29028908	K562	blood:	n/a	n/a
30	JUN	chr5:29070574-29070705	K562	blood:	n/a	n/a
31	JUN	chr5:29037846-29038172	Hela-S3	cervix:	n/a	n/a
32	JUND	chr5:29051849-29051918	K562	blood:	n/a	n/a
33	JUND	chr5:29048343-29048521	HepG2	liver:	n/a	n/a
34	JUND	chr5:29037731-29038180	Hela-S3	cervix:	n/a	n/a
35	MAFF	chr5:29037179-29037384	HepG2	liver:	n/a	n/a
36	MAFF	chr5:29040608-29040857	HepG2	liver:	n/a	chr5:29040715-29040733
37	MAFF	chr5:29045975-29046114	HepG2	liver:	n/a	n/a
38	MAFF	chr5:29059532-29059675	HepG2	liver:	n/a	n/a
39	MAFK	chr5:29037146-29037444	HepG2	liver:	n/a	n/a
40	MAFK	chr5:29059589-29059668	HepG2	liver:	n/a	chr5:29059625-29059636 chr5:29059623-29059637 chr5:29059624-29059635 chr5:29059620-29059635 chr5:29059625-29059636 chr5:29059620-29059636 chr5:29059624-29059635
41	MAFK	chr5:29042293-29042570	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAFK	chr5:29040555-29040839	HepG2	liver:	n/a	n/a
43	MAFK	chr5:29040623-29040838	IMR90	lung:	n/a	n/a
44	MAFK	chr5:29037162-29037436	HepG2	liver:	n/a	n/a
45	MAFK	chr5:29059500-29059700	HepG2	liver:	n/a	chr5:29059625-29059636 chr5:29059623-29059637 chr5:29059624-29059635 chr5:29059620-29059635 chr5:29059625-29059636 chr5:29059620-29059636 chr5:29059624-29059635
46	MAFK	chr5:29040596-29040860	Hela-S3	cervix:	n/a	n/a
47	MAFK	chr5:29063763-29064005	HepG2	liver:	n/a	n/a
48	MAFK	chr5:29045977-29046064	HepG2	liver:	n/a	chr5:29046001-29046015
49	MAFK	chr5:29067592-29067660	H1-hESC	embryonic stem cell:	n/a	n/a
50	MAFK	chr5:29040560-29040888	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:29059482..29062466-chr5:29065874..29068673,2	MCF-7	breast:
2	chr5:29059482..29062466-chr5:29065874..29068673,2	MCF-7	breast:
3	chr5:29050111..29052926-chr5:29053158..29054737,2	MCF-7	breast:
4	chr5:29026756..29028723-chr5:29043428..29045918,2	K562	blood:
5	chr5:29050111..29052926-chr5:29053158..29054737,2	MCF-7	breast:
6	chr5:29026756..29028723-chr5:29043428..29045918,2	K562	blood:
7	chr5:28906947..28909506-chr5:29049292..29051622,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDH6-3	chr5:29066381-29070363	NR_109948
2	lnc-CDH6-3	chr5:29065351-29065724	ENSG00000249322
3	lnc-CDH6-3	chr5:29065946-29066069	ENSG00000249322
4	lnc-CDH6-3	chr5:29073007-29073329	ENSG00000249322
5	lnc-CDH6-3	chr5:29066381-29070363	ENSG00000249322
6	lnc-CDH6-3	chr5:29065351-29065724	NR_109948
7	lnc-CDH6-3	chr5:29073007-29073330	NR_109948
8	lnc-CDH6-3	chr5:29065946-29066069	NR_109948

Variant related genes	Relation type
ENSG00000252601	TF binding region
FOXD1	miRNA target sites
CBFB	miRNA target sites

Extended variants
information (count: 645 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:645 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576985779	chr5:29036022-29036023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112031171	chr5:29036028-29036029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559232598	chr5:29036095-29036096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529979320	chr5:29036113-29036114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10940780	chr5:29036161-29036162	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs562974374	chr5:29036178-29036179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530512473	chr5:29036243-29036244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186969314	chr5:29036249-29036250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570501460	chr5:29036260-29036261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532603643	chr5:29036275-29036276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12518840	chr5:29036303-29036304	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs566272564	chr5:29036326-29036327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560518876	chr5:29036329-29036330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555285619	chr5:29036331-29036332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148130256	chr5:29036340-29036341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10940782	chr5:29036353-29036354	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs10940783	chr5:29036369-29036370	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs111863065	chr5:29036375-29036376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183994389	chr5:29036404-29036405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142463453	chr5:29036408-29036409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11748283	chr5:29036413-29036414	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs541758883	chr5:29036499-29036500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563210821	chr5:29036607-29036608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575156382	chr5:29036613-29036614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545844683	chr5:29036682-29036683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531966377	chr5:29036694-29036695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374017565	chr5:29036729-29036730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559332420	chr5:29036762-29036763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189011005	chr5:29036794-29036795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546693544	chr5:29036795-29036796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs506623	chr5:29036797-29036798	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs531284583	chr5:29037439-29037440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116777014	chr5:29037458-29037459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs80217749	chr5:29037523-29037524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs3907527	chr5:29037536-29037537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538745388	chr5:29037551-29037552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534667100	chr5:29037597-29037598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs477865	chr5:29037614-29037615	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs532622839	chr5:29037645-29037646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs367763494	chr5:29037665-29037666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535543102	chr5:29037688-29037689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148830108	chr5:29037701-29037702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200903441	chr5:29037702-29037703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs202046822	chr5:29037703-29037704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs200003138	chr5:29037704-29037705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557164174	chr5:29037741-29037742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs3853229	chr5:29037749-29037750	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs539753333	chr5:29037794-29037795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557732170	chr5:29037795-29037796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs149950866	chr5:29037805-29037806	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29036000-29036800	Enhancers	Fetal Heart	heart
2	chr5:29037400-29038200	Enhancers	Hela-S3	cervix
3	chr5:29037400-29038400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:29042200-29042600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr5:29042200-29042600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:29042200-29042800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:29042200-29045000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:29042400-29042800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr5:29042400-29042800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:29042800-29045000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:29043600-29044000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:29044000-29045000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:29045000-29045200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:29045000-29045200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:29045000-29045400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:29045400-29045800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:29045800-29046400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:29051200-29052400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:29052400-29054600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:29054200-29054400	Enhancers	Fetal Heart	heart
21	chr5:29054400-29054800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr5:29054400-29054800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:29054400-29054800	Flanking Active TSS	Fetal Heart	heart
24	chr5:29054400-29055000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:29054400-29055000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:29054600-29054800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:29054800-29055000	Enhancers	Fetal Heart	heart
28	chr5:29061400-29061800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:29067600-29067800	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr5:29067800-29068200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr5:29067800-29068200	Enhancers	Stomach Mucosa	stomach
32	chr5:29068000-29068400	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr5:29068200-29068400	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr5:29068400-29068600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr5:29068400-29068600	Weak transcription	Stomach Mucosa	stomach
36	chr5:29068400-29068800	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr5:29068400-29069200	Enhancers	Pancreas	Pancrea
38	chr5:29068400-29069200	Enhancers	HepG2	liver
39	chr5:29068400-29070200	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr5:29068600-29069000	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr5:29068600-29069000	Active TSS	Stomach Mucosa	stomach
42	chr5:29069000-29069200	Flanking Active TSS	Stomach Mucosa	stomach
43	chr5:29069000-29069400	Active TSS	Rectal Smooth Muscle	rectum
44	chr5:29069000-29069600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr5:29069200-29069600	Enhancers	Stomach Mucosa	stomach
46	chr5:29069600-29070800	Enhancers	Rectal Mucosa Donor 31	rectum

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