Variant report

Variant	nsv1018164
Chromosome Location	chr5:104117679-104190187
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	CEBPB	chr5:104136117-104136616	MCF-7	breast:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
2	CEBPB	chr5:104171648-104171720	HepG2	liver:	n/a	n/a
3	CEBPB	chr5:104177422-104177540	K562	blood:	n/a	n/a
4	CEBPB	chr5:104136178-104136571	HepG2	liver:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
5	CEBPB	chr5:104136186-104136537	K562	blood:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
6	CEBPB	chr5:104136123-104136646	HCT-116	colon:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
7	CEBPB	chr5:104136136-104136548	A549	lung:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
8	CEBPB	chr5:104136190-104136565	H1-hESC	embryonic stem cell:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
9	CEBPB	chr5:104136061-104136624	A549	lung:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
10	CEBPB	chr5:104136228-104136514	Hela-S3	cervix:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
11	CEBPB	chr5:104136258-104136502	HepG2	liver:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
12	CEBPB	chr5:104136032-104136689	MCF-7	breast:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
13	CEBPB	chr5:104136188-104136569	K562	blood:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
14	CEBPB	chr5:104136225-104136497	HepG2	liver:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
15	CEBPB	chr5:104136181-104136567	HepG2	liver:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
16	CEBPB	chr5:104136255-104136426	K562	blood:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
17	CEBPB	chr5:104136224-104136540	IMR90	lung:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
18	CEBPB	chr5:104136209-104136550	A549	lung:	n/a	chr5:104136365-104136376 chr5:104136380-104136391
19	CEBPD	chr5:104136280-104136473	HepG2	liver:	n/a	n/a
20	CEBPD	chr5:104179642-104179910	K562	blood:	n/a	n/a
21	CTCF	chr5:104136260-104136410	HAc	cerebellar:	n/a	n/a
22	CTCF	chr5:104136269-104136444	Pancreas_OC	pancreas:	n/a	n/a
23	CTCF	chr5:104136221-104136489	GM12878	blood:	n/a	n/a
24	CTCF	chr5:104136220-104136370	GM12875	blood:	n/a	n/a
25	CTCF	chr5:104136280-104136430	HPAF	blood vessel:	n/a	n/a
26	CTCF	chr5:104136249-104136465	HepG2	liver:	n/a	n/a
27	CTCF	chr5:104136251-104136431	GM19238	blood:	n/a	n/a
28	CTCF	chr5:104136260-104136410	AG10803	skin:	n/a	n/a
29	CTCF	chr5:104136200-104136493	MCF-7	breast:	n/a	n/a
30	CTCF	chr5:104136250-104136468	GM13977	blood:	n/a	n/a
31	CTCF	chr5:104136300-104136450	RPTEC	kidney:	n/a	n/a
32	CTCF	chr5:104136253-104136461	LNCaP	prostate:	n/a	n/a
33	CTCF	chr5:104136220-104136370	NHEK	skin:	n/a	n/a
34	CTCF	chr5:104136280-104136430	GM12868	blood:	n/a	n/a
35	CTCF	chr5:104136233-104136462	A549	lung:	n/a	n/a
36	CTCF	chr5:104136300-104136450	GM12866	blood:	n/a	n/a
37	CTCF	chr5:104136240-104136390	GM12864	blood:	n/a	n/a
38	CTCF	chr5:104136274-104136379	Fibrobl	skin:	n/a	n/a
39	CTCF	chr5:104136216-104136478	MCF-7	breast:	n/a	n/a
40	CTCF	chr5:104136280-104136430	GM12864	blood:	n/a	n/a
41	CTCF	chr5:104136260-104136410	A549	lung:	n/a	n/a
42	CTCF	chr5:104168822-104168919	HepG2	liver:	n/a	n/a
43	CTCF	chr5:104136100-104136250	HVMF	connective:	n/a	n/a
44	CTCF	chr5:104136360-104136510	HFF	foreskin:	n/a	n/a
45	CTCF	chr5:104136234-104136478	LNCaP	prostate:	n/a	n/a
46	CTCF	chr5:104168740-104168890	HEK293	kidney:	n/a	n/a
47	CTCF	chr5:104136188-104136513	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr5:104136300-104136450	GM12878	blood:	n/a	n/a
49	CTCF	chr5:104136154-104136508	K562	blood:	n/a	n/a
50	CTCF	chr5:104136300-104136450	GM12864	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUDT12-13	chr5:104118423-104118445	l_2988_chr5:104103131-104137422_testes
2	lnc-NUDT12-13	chr5:104137254-104137422	l_2988_chr5:104103131-104137422_testes
3	lnc-C5orf30-3	chr5:104135007-104135473	ENSG00000253776

Variant related genes	Relation type
RNU6-334P	TF binding region

Extended variants
information (count: 1128 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1128 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76404786	chr5:104117963-104117964	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs17157132	chr5:104117986-104117987	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs530925309	chr5:104117987-104117988	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs17157135	chr5:104117995-104117996	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs139507454	chr5:104117999-104118000	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs576667784	chr5:104118008-104118009	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs10050461	chr5:104118033-104118034	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs369218881	chr5:104118109-104118110	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs548986192	chr5:104118813-104118814	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs566014430	chr5:104118817-104118818	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs559269896	chr5:104120592-104120593	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs564953691	chr5:104120600-104120601	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs575446755	chr5:104120609-104120610	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs544185892	chr5:104120620-104120621	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs180724635	chr5:104120648-104120649	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs538303270	chr5:104120683-104120684	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs565835884	chr5:104120699-104120700	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs57145476	chr5:104120702-104120703	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs186116661	chr5:104120739-104120740	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs532094436	chr5:104120791-104120792	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs138897069	chr5:104120812-104120813	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs377024669	chr5:104120823-104120824	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs569354351	chr5:104120843-104120844	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs573670816	chr5:104120870-104120871	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs375357919	chr5:104120872-104120873	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs548647591	chr5:104120880-104120881	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs568420803	chr5:104120917-104120918	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs35589153	chr5:104120924-104120925	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs534218282	chr5:104120944-104120945	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs115234075	chr5:104121003-104121004	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs146972455	chr5:104121004-104121005	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs190986012	chr5:104121023-104121024	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs558676014	chr5:104121025-104121026	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs575387013	chr5:104121032-104121033	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs544494860	chr5:104121071-104121072	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs554888017	chr5:104121088-104121089	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs74491794	chr5:104124813-104124814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575648768	chr5:104124822-104124823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544391825	chr5:104124840-104124841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368768359	chr5:104124908-104124909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563466766	chr5:104124958-104124959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564493418	chr5:104124986-104124987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573928824	chr5:104125010-104125011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542921230	chr5:104125020-104125021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559719309	chr5:104125035-104125036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542398717	chr5:104125083-104125084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551309257	chr5:104125132-104125133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201244503	chr5:104125153-104125154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564735733	chr5:104125156-104125157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554032967	chr5:104125159-104125160	Enhancers	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	22037309	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104124800-104125400	Enhancers	Duodenum Smooth Muscle	Duodenum
2	chr5:104124800-104125400	Enhancers	Rectal Smooth Muscle	rectum
3	chr5:104124800-104125600	Enhancers	Fetal Lung	lung
4	chr5:104124800-104126400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:104126400-104130000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:104127800-104129000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:104128400-104129800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:104128600-104129000	Enhancers	Fetal Intestine Small	intestine
9	chr5:104128600-104129000	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr5:104128600-104129200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr5:104128600-104129400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:104128600-104129400	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr5:104128600-104130000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
14	chr5:104128600-104130200	Enhancers	Fetal Intestine Large	intestine
15	chr5:104128800-104129200	Enhancers	NH-A	brain
16	chr5:104129000-104129400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
17	chr5:104129000-104129400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr5:104129200-104129400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
19	chr5:104129200-104130000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr5:104130000-104130200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr5:104130000-104130200	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr5:104130000-104132000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:104136200-104136400	ZNF genes & repeats	Aorta	Aorta
24	chr5:104137600-104138400	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr5:104150800-104151200	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr5:104151200-104154800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr5:104157200-104157800	Enhancers	Fetal Intestine Large	intestine
28	chr5:104157200-104159600	Enhancers	Fetal Intestine Small	intestine
29	chr5:104173200-104173400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr5:104173200-104173400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr5:104173200-104173400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr5:104173200-104173400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr5:104173200-104173400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr5:104173200-104173400	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr5:104173400-104179600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr5:104174800-104176200	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr5:104175000-104175800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:104175000-104176200	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr5:104175000-104177000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr5:104175000-104180000	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr5:104175200-104175600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr5:104175200-104175600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:104175200-104175800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:104175200-104176200	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr5:104175400-104176200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr5:104175600-104178600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:104175800-104181200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:104176200-104178200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr5:104176200-104178400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr5:104176200-104179600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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