Variant report

Variant	nsv516663
Chromosome Location	chr5:1932463-1934666
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	chr5:1933301-1933328	K562	blood:	n/a	n/a
2	BHLHE40	chr5:1934036-1934438	K562	blood:	n/a	n/a
3	CBX3	chr5:1934067-1934448	K562	blood:	n/a	n/a
4	CTCF	chr5:1934320-1934470	HepG2	liver:	n/a	n/a
5	CTCF	chr5:1934340-1934490	HMEC	breast:	n/a	n/a
6	CTCF	chr5:1934300-1934570	HCT-116	colon:	n/a	n/a
7	CTCF	chr5:1934324-1934533	K562	blood:	n/a	n/a
8	CTCF	chr5:1934294-1934513	K562	blood:	n/a	n/a
9	CTCF	chr5:1934300-1934450	WERI-Rb-1	eye:	n/a	n/a
10	CTCF	chr5:1934280-1934430	HCT-116	colon:	n/a	n/a
11	CTCF	chr5:1934361-1934475	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr5:1934380-1934530	K562	blood:	n/a	n/a
13	CTCF	chr5:1934256-1934519	K562	blood:	n/a	n/a
14	CTCF	chr5:1934349-1934497	K562	blood:	n/a	n/a
15	CTCF	chr5:1934340-1934490	K562	blood:	n/a	n/a
16	CTCF	chr5:1934320-1934470	GM12871	blood:	n/a	n/a
17	CTCF	chr5:1933360-1933510	GM12868	blood:	n/a	n/a
18	CTCF	chr5:1934110-1934624	K562	blood:	n/a	n/a
19	E2F6	chr5:1933879-1934485	K562	blood:	n/a	n/a
20	EGR1	chr5:1934038-1934286	K562	blood:	n/a	chr5:1934159-1934168
21	EP300	chr5:1933964-1934389	K562	blood:	n/a	n/a
22	FOS	chr5:1933352-1933871	MCF10A-Er-Src	breast:	n/a	chr5:1933699-1933706 chr5:1933699-1933707 chr5:1933698-1933708 chr5:1933699-1933707 chr5:1933698-1933708 chr5:1933698-1933708 chr5:1933697-1933709 chr5:1933698-1933708
23	FOS	chr5:1933517-1933860	MCF10A-Er-Src	breast:	n/a	chr5:1933699-1933706 chr5:1933699-1933707 chr5:1933698-1933708 chr5:1933699-1933707 chr5:1933698-1933708 chr5:1933698-1933708 chr5:1933697-1933709 chr5:1933698-1933708
24	FOS	chr5:1933590-1933874	MCF10A-Er-Src	breast:	n/a	chr5:1933699-1933706 chr5:1933699-1933707 chr5:1933698-1933708 chr5:1933699-1933707 chr5:1933698-1933708 chr5:1933698-1933708 chr5:1933697-1933709 chr5:1933698-1933708
25	FOS	chr5:1933519-1933861	MCF10A-Er-Src	breast:	n/a	chr5:1933699-1933706 chr5:1933699-1933707 chr5:1933698-1933708 chr5:1933699-1933707 chr5:1933698-1933708 chr5:1933698-1933708 chr5:1933697-1933709 chr5:1933698-1933708
26	FOSL1	chr5:1933406-1934456	HCT-116	colon:	n/a	chr5:1933699-1933706 chr5:1934197-1934206 chr5:1933699-1933707 chr5:1933698-1933708 chr5:1933699-1933707 chr5:1933698-1933708 chr5:1933698-1933708 chr5:1933697-1933709 chr5:1933698-1933708
27	FOSL1	chr5:1933341-1934506	HCT-116	colon:	n/a	chr5:1933699-1933706 chr5:1934197-1934206 chr5:1933699-1933707 chr5:1933698-1933708 chr5:1933699-1933707 chr5:1933698-1933708 chr5:1933698-1933708 chr5:1933697-1933709 chr5:1933698-1933708
28	GABPA	chr5:1934287-1934483	K562	blood:	n/a	n/a
29	JUND	chr5:1933359-1934441	HCT-116	colon:	n/a	chr5:1933699-1933706 chr5:1934197-1934206 chr5:1933699-1933707 chr5:1933698-1933708 chr5:1933699-1933707 chr5:1933698-1933708 chr5:1933698-1933708 chr5:1933697-1933709 chr5:1933698-1933708
30	JUND	chr5:1933347-1934319	HCT-116	colon:	n/a	chr5:1933699-1933706 chr5:1934197-1934206 chr5:1933699-1933707 chr5:1933698-1933708 chr5:1933699-1933707 chr5:1933698-1933708 chr5:1933698-1933708 chr5:1933697-1933709 chr5:1933698-1933708
31	JUND	chr5:1933590-1933835	K562	blood:	n/a	chr5:1933699-1933706 chr5:1933699-1933707 chr5:1933698-1933708 chr5:1933699-1933707 chr5:1933698-1933708 chr5:1933698-1933708 chr5:1933697-1933709 chr5:1933698-1933708
32	JUND	chr5:1934097-1934126	K562	blood:	n/a	n/a
33	MAFK	chr5:1932416-1932464	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAX	chr5:1933881-1934518	K562	blood:	n/a	chr5:1934230-1934241 chr5:1934231-1934240 chr5:1934227-1934242 chr5:1934231-1934241 chr5:1934230-1934241 chr5:1934229-1934242
35	MAX	chr5:1934092-1934386	K562	blood:	n/a	chr5:1934230-1934241 chr5:1934231-1934240 chr5:1934227-1934242 chr5:1934231-1934241 chr5:1934230-1934241 chr5:1934229-1934242
36	MAX	chr5:1933832-1934632	HCT-116	colon:	n/a	chr5:1934230-1934241 chr5:1934231-1934240 chr5:1934227-1934242 chr5:1934231-1934241 chr5:1934230-1934241 chr5:1934229-1934242
37	MAX	chr5:1933413-1934632	HCT-116	colon:	n/a	chr5:1934230-1934241 chr5:1934231-1934240 chr5:1934227-1934242 chr5:1934231-1934241 chr5:1934230-1934241 chr5:1934229-1934242
38	MAX	chr5:1934126-1934441	K562	blood:	n/a	chr5:1934230-1934241 chr5:1934231-1934240 chr5:1934227-1934242 chr5:1934231-1934241 chr5:1934230-1934241 chr5:1934229-1934242
39	MAZ	chr5:1934256-1934328	K562	blood:	n/a	n/a
40	MYC	chr5:1933526-1933767	MCF10A-Er-Src	breast:	n/a	n/a
41	MYC	chr5:1934068-1934476	K562	blood:	n/a	chr5:1934230-1934241 chr5:1934231-1934240 chr5:1934227-1934242 chr5:1934231-1934241 chr5:1934230-1934241 chr5:1934229-1934242
42	MYC	chr5:1934118-1934377	K562	blood:	n/a	chr5:1934230-1934241 chr5:1934231-1934240 chr5:1934227-1934242 chr5:1934231-1934241 chr5:1934230-1934241 chr5:1934229-1934242
43	POLR2A	chr5:1927991-1933825	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr5:1933062-1933398	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr5:1928300-1932687	MCF10A-Er-Src	breast:	n/a	n/a
46	RAD21	chr5:1934254-1934556	H1-hESC	embryonic stem cell:	n/a	n/a
47	SP1	chr5:1933358-1934603	HCT-116	colon:	n/a	chr5:1934178-1934192
48	TCF7L2	chr5:1934011-1934179	Hela-S3	cervix:	n/a	n/a
49	TCF7L2	chr5:1933342-1934596	HCT-116	colon:	n/a	chr5:1933698-1933707 chr5:1933710-1933726 chr5:1933711-1933725 chr5:1933710-1933726
50	YY1	chr5:1933494-1933713	HCT-116	colon:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:1934165-1934215	Hela-S3	cervix:	n/a
2	chr5:1934165-1934215	T-47D	breast:	n/a
3	chr5:1934165-1934215	AG09309	skin:	n/a
4	chr5:1934165-1934215	NHBE	bronchial:	n/a
5	chr5:1934165-1934215	AG09319	gingival:	n/a
6	chr5:1934165-1934215	K562	blood:	n/a
7	chr5:1934165-1934215	ProgFib	skin:	n/a
8	chr5:1934165-1934215	HL-60	blood:	n/a
9	chr5:1934165-1934215	PrEC	prostate:	n/a
10	chr5:1934165-1934215	U87	brain:	n/a
11	chr5:1934165-1934215	Hepatocyte	liver:	n/a
12	chr5:1934165-1934215	HAEpiC	amniotic membrane:	n/a
13	chr5:1934165-1934215	NHDF-neo	bronchial:	n/a
14	chr5:1934165-1934215	HEEpiC	esophagus:	n/a
15	chr5:1934165-1934215	Jurkat	blood:	n/a
16	chr5:1934165-1934215	HCT-116	colon:	n/a
17	chr5:1934165-1934215	GM06990	blood:	n/a
18	chr5:1934165-1934215	SK-N-SH_RA	brain:	n/a
19	chr5:1934165-1934215	HMEC	breast:	n/a
20	chr5:1934165-1934215	PANC-1	pancreas:	n/a
21	chr5:1934165-1934215	SK-N-SH	brain:	n/a
22	chr5:1934165-1934215	HUVEC	blood vessel:	n/a
23	chr5:1934165-1934215	CMK	blood:	n/a
24	chr5:1934165-1934215	MCF10A-Er-Src	breast:	n/a
25	chr5:1934165-1934215	AG04450	lung:	fetal
26	chr5:1934165-1934215	HCF	heart:	n/a
27	chr5:1934165-1934215	GM12892	blood:	n/a
28	chr5:1934165-1934215	HPAEpiC	pulmonary alveolar:	n/a
29	chr5:1934165-1934215	NT2-D1	testis:	n/a
30	chr5:1934165-1934215	PFSK-1	brain:	n/a
31	chr5:1934165-1934215	BJ	skin:	n/a
32	chr5:1934165-1934215	IMR90	lung:	fetal
33	chr5:1934165-1934215	HepG2	liver:	n/a
34	chr5:1934165-1934215	HCM	heart:	n/a
35	chr5:1934165-1934215	GM12878	blood:	n/a
36	chr5:1934165-1934215	AG10803	skin:	n/a
37	chr5:1934165-1934215	BE2_C	brain:	n/a
38	chr5:1934165-1934215	HRE	kidney:	n/a
39	chr5:1934165-1934215	NH-A	brain:	n/a
40	chr5:1934165-1934215	SAEC	small airway:	n/a
41	chr5:1934165-1934215	RPTEC	kidney:	n/a
42	chr5:1934165-1934215	HRPEpiC	eye:	n/a
43	chr5:1934165-1934215	GM12891	blood:	n/a
44	chr5:1934165-1934215	HNPCEpiC	eye:	n/a
45	chr5:1934165-1934215	NB4	blood:	n/a
46	chr5:1934165-1934215	HEK293	kidney:	embryo
47	chr5:1934165-1934215	MCF-7	breast:	n/a
48	chr5:1934165-1934215	SKMC	muscle:	n/a
49	chr5:1934165-1934215	AoSMC	blood vessel:	n/a
50	chr5:1934165-1934215	A549	lung:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:1881423..1883600-chr5:1931817..1933419,2	MCF-7	breast:
2	chr5:1881475..1885354-chr5:1933918..1938503,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NDUFS6-5	chr5:1933923-1934099	XLOC_004250
2	lnc-NDUFS6-5	chr5:1933923-1934099	XLOC_004250
3	lnc-NDUFS6-5	chr5:1933977-1934099	XLOC_004250
4	lnc-NDUFS6-5	chr5:1933923-1934099	XLOC_004250
5	lnc-NDUFS6-5	chr5:1933923-1934099	XLOC_004250

Variant related genes	Relation type
ENSG00000248994	TF binding region
ENSG00000248994	CpG island
ENSG00000113430	chromatin interactions
ENSG00000249116	chromatin interactions
LEPRE1	miRNA target sites

Extended variants
information (count: 81 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10058874	chr5:1932463-1932464	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs536373825	chr5:1932533-1932534	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs554641851	chr5:1932535-1932536	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs10051201	chr5:1932582-1932583	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs150946021	chr5:1932608-1932609	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs543421855	chr5:1932679-1932680	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs564890395	chr5:1932698-1932699	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs551839321	chr5:1932699-1932700	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs542433711	chr5:1932729-1932730	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs545256569	chr5:1932741-1932742	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs142117012	chr5:1932790-1932791	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs192089835	chr5:1932820-1932821	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs183483908	chr5:1932850-1932851	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs369829489	chr5:1932887-1932888	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs528389117	chr5:1932891-1932892	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs560971283	chr5:1933020-1933021	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs188831606	chr5:1933064-1933065	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs192899902	chr5:1933138-1933139	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs571187061	chr5:1933159-1933160	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs145937998	chr5:1933165-1933166	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs185005708	chr5:1933178-1933179	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs186954142	chr5:1933187-1933188	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs566190393	chr5:1933188-1933189	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs191347328	chr5:1933284-1933285	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs183526804	chr5:1933291-1933292	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs6887187	chr5:1933300-1933301	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs537122588	chr5:1933303-1933304	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs558698626	chr5:1933316-1933317	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs189339789	chr5:1933526-1933527	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs373730554	chr5:1933529-1933530	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs554022989	chr5:1933585-1933586	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs572203464	chr5:1933652-1933653	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs367608240	chr5:1933661-1933662	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs556055057	chr5:1933684-1933685	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs561034103	chr5:1933689-1933690	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs138865372	chr5:1933751-1933752	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs531449480	chr5:1933772-1933773	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs543526289	chr5:1933818-1933819	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs115011304	chr5:1933843-1933844	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs568214018	chr5:1933844-1933845	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs532130232	chr5:1933892-1933893	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs4975767	chr5:1933917-1933918	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs566373214	chr5:1933927-1933928	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
44	rs4975768	chr5:1933931-1933932	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs114549208	chr5:1933939-1933940	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs4975769	chr5:1933955-1933956	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs4975770	chr5:1933964-1933965	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs16901995	chr5:1933981-1933982	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs147000535	chr5:1934008-1934009	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs535024594	chr5:1934010-1934011	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16608533	CNVD
Cervical cancer	16585170	CNVD
Glioblastoma multiforme	22286061	CNVD
Lung cancer	17925434	CNVD
Ovarian cancer	20844748	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	21829676	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	19181860	CNVD
prenatal diagnosis	20453657	CNVD
Developmental delay	19490664	CNVD
Human papillomavirus	17975027	CNVD
Acute monocytic leukemia	16498392	CNVD
Gastric cancer	16891809	CNVD
Intracranial aneurysm	16715129	CNVD
Emphysema	19352772	CNVD
Chordoma	18071362	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	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
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Oral cancer	22144094	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Developmental delay	21147756	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
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Schizophrenia	23813976	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1932000-1943200	Weak transcription	Esophagus	oesophagus
2	chr5:1932000-1950800	Weak transcription	Gastric	stomach
3	chr5:1932200-1932800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:1932200-1933000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr5:1932200-1933200	Weak transcription	NHEK	skin
6	chr5:1932200-1933400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:1932200-1933800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:1932200-1934200	Weak transcription	Pancreas	Pancrea
9	chr5:1932200-1934400	Weak transcription	Brain Anterior Caudate	brain
10	chr5:1932200-1934400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr5:1932200-1934800	Weak transcription	Ovary	ovary
12	chr5:1932200-1935000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr5:1932200-1935000	Weak transcription	Left Ventricle	heart
14	chr5:1932200-1937600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr5:1932200-1937600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr5:1932200-1942200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr5:1932200-1945600	Weak transcription	Right Ventricle	heart
18	chr5:1932200-1946400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:1932400-1932600	Enhancers	HMEC	breast
20	chr5:1932400-1936600	Weak transcription	Adipose Nuclei	Adipose
21	chr5:1932600-1933000	Weak transcription	HMEC	breast
22	chr5:1932800-1933000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:1933000-1933600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:1933000-1934000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr5:1933000-1938200	Enhancers	HMEC	breast
26	chr5:1933000-1942200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr5:1933200-1933800	Enhancers	NHEK	skin
28	chr5:1933400-1933800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:1933600-1933800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
30	chr5:1933600-1934200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:1933600-1934200	Weak transcription	Aorta	Aorta
32	chr5:1933800-1934400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:1933800-1935800	Weak transcription	NHEK	skin
34	chr5:1933800-1936000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:1934000-1934400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr5:1934000-1934400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr5:1934000-1934600	Enhancers	K562	blood
38	chr5:1934000-1936600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr5:1934200-1934600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr5:1934400-1935200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:1934400-1935200	Weak transcription	Pancreas	Pancrea
42	chr5:1934400-1936000	Strong transcription	Brain Anterior Caudate	brain
43	chr5:1934400-1936600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr5:1934400-1942400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr5:1934600-1935800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links