Variant report

Variant	nsv978908
Chromosome Location	chr19:43860822-43882089
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:132)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:132 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:43876631-43876918	IMR90	lung:	n/a	n/a
2	CTCF	chr19:43861798-43861865	Lung_OC	lung:	n/a	n/a
3	CTCF	chr19:43881091-43881135	GM19239	blood:	n/a	n/a
4	CTCF	chr19:43880679-43880775	GM19239	blood:	n/a	n/a
5	CTCF	chr19:43881857-43882043	NHEK	skin:	n/a	n/a
6	CTCF	chr19:43861644-43861682	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr19:43881962-43882017	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr19:43874507-43874521	GM10248	blood:	n/a	n/a
9	CTCF	chr19:43873626-43873673	GM13976	blood:	n/a	n/a
10	CTCF	chr19:43861940-43861968	GM10266	blood:	n/a	n/a
11	CTCF	chr19:43881250-43881292	GM13977	blood:	n/a	n/a
12	CTCF	chr19:43862714-43862810	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr19:43867656-43867778	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr19:43880875-43880946	NHEK	skin:	n/a	n/a
15	CTCF	chr19:43869980-43870130	GM12872	blood:	n/a	n/a
16	CTCF	chr19:43881063-43881067	GM19239	blood:	n/a	n/a
17	CTCF	chr19:43860783-43860835	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr19:43861872-43861986	GM19239	blood:	n/a	n/a
19	CTCF	chr19:43881069-43881079	GM19239	blood:	n/a	n/a
20	CTCF	chr19:43862100-43862381	GM19239	blood:	n/a	n/a
21	CTCF	chr19:43879059-43879112	Lung_OC	lung:	n/a	n/a
22	CTCF	chr19:43873836-43873905	Lung_OC	lung:	n/a	n/a
23	CTCF	chr19:43870880-43871030	GM12864	blood:	n/a	n/a
24	CTCF	chr19:43861032-43861154	NHEK	skin:	n/a	n/a
25	CTCF	chr19:43863891-43863931	GM12892	blood:	n/a	n/a
26	CTCF	chr19:43862280-43862352	GM13976	blood:	n/a	n/a
27	CTCF	chr19:43861858-43861907	GM12891	blood:	n/a	n/a
28	CTCF	chr19:43869472-43869521	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr19:43881617-43881700	GM13976	blood:	n/a	n/a
30	EP300	chr19:43876648-43877112	SK-N-SH_RA	brain:	n/a	n/a
31	EP300	chr19:43876572-43877029	SK-N-SH_RA	brain:	n/a	n/a
32	EP300	chr19:43871367-43871775	SK-N-SH_RA	brain:	n/a	n/a
33	EP300	chr19:43871448-43871766	SK-N-SH_RA	brain:	n/a	n/a
34	EP300	chr19:43866199-43866840	SK-N-SH_RA	brain:	n/a	n/a
35	EP300	chr19:43866140-43866781	SK-N-SH_RA	brain:	n/a	n/a
36	FOS	chr19:43872851-43873131	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr19:43872859-43873267	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr19:43869885-43870125	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr19:43869885-43870149	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr19:43876636-43876942	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr19:43876616-43876955	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr19:43869932-43870061	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr19:43869885-43870152	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr19:43876630-43876899	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr19:43872876-43873313	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr19:43866407-43866720	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr19:43866524-43866680	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr19:43866466-43866686	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr19:43876616-43876965	MCF10A-Er-Src	breast:	n/a	n/a
50	FOSL2	chr19:43866376-43866816	SK-N-SH	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:43866487-43866537	BE2_C	brain:	n/a
2	chr19:43866487-43866537	HEK293	kidney:	embryo
3	chr19:43866487-43866537	Hela-S3	cervix:	n/a
4	chr19:43866487-43866537	HRE	kidney:	n/a
5	chr19:43866487-43866537	HCPEpiC	choroid plexus:	n/a
6	chr19:43866487-43866537	K562	blood:	n/a
7	chr19:43866487-43866537	SK-N-SH_RA	brain:	n/a
8	chr19:43866487-43866537	IMR90	lung:	fetal
9	chr19:43866487-43866537	GM12892	blood:	n/a
10	chr19:43866487-43866537	NHDF-neo	bronchial:	n/a
11	chr19:43866487-43866537	T-47D	breast:	n/a
12	chr19:43866487-43866537	A549	lung:	n/a
13	chr19:43866487-43866537	HepG2	liver:	n/a
14	chr19:43866487-43866537	PANC-1	pancreas:	n/a
15	chr19:43866487-43866537	HCM	heart:	n/a
16	chr19:43866487-43866537	AoSMC	blood vessel:	n/a
17	chr19:43866487-43866537	NH-A	brain:	n/a
18	chr19:43866487-43866537	HRCEpiC	kidney:	n/a
19	chr19:43866487-43866537	HUVEC	blood vessel:	n/a
20	chr19:43866487-43866537	Hepatocyte	liver:	n/a
21	chr19:43866487-43866537	GM06990	blood:	n/a
22	chr19:43866487-43866537	AG10803	skin:	n/a
23	chr19:43866487-43866537	NT2-D1	testis:	n/a
24	chr19:43866487-43866537	LNCaP	prostate:	n/a
25	chr19:43866487-43866537	BJ	skin:	n/a
26	chr19:43866487-43866537	MCF-7	breast:	n/a
27	chr19:43866487-43866537	AG09309	skin:	n/a
28	chr19:43866487-43866537	Jurkat	blood:	n/a
29	chr19:43866487-43866537	CMK	blood:	n/a
30	chr19:43866487-43866537	GM12891	blood:	n/a
31	chr19:43866487-43866537	PFSK-1	brain:	n/a
32	chr19:43866487-43866537	MCF10A-Er-Src	breast:	n/a
33	chr19:43866487-43866537	HCF	heart:	n/a
34	chr19:43866487-43866537	HNPCEpiC	eye:	n/a
35	chr19:43866487-43866537	PrEC	prostate:	n/a
36	chr19:43866487-43866537	GM19239	blood:	n/a
37	chr19:43866487-43866537	HMEC	breast:	n/a
38	chr19:43866487-43866537	HAEpiC	amniotic membrane:	n/a
39	chr19:43866487-43866537	SKMC	muscle:	n/a
40	chr19:43866487-43866537	H1-hESC	embryonic stem cell:	embryo
41	chr19:43866487-43866537	SAEC	small airway:	n/a
42	chr19:43866487-43866537	SK-N-SH	brain:	n/a
43	chr19:43866487-43866537	HRPEpiC	eye:	n/a
44	chr19:43866487-43866537	AG04449	skin:	fetal
45	chr19:43866487-43866537	HL-60	blood:	n/a
46	chr19:43866487-43866537	HIPEpiC	eye:	n/a
47	chr19:43866487-43866537	HPAEpiC	pulmonary alveolar:	n/a
48	chr19:43866487-43866537	ECC-1	luminal epithelium:	n/a
49	chr19:43866487-43866537	GM12878	blood:	n/a
50	chr19:43866487-43866537	RPTEC	kidney:	n/a

No data

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC005392.1-1	chr19:43872981-43873122	ENSG00000272396.1
2	lnc-AC005392.1-1	chr19:43872546-43872658	NONHSAT066597
3	lnc-AC005392.1-1	chr19:43872981-43873227	NONHSAT066597
4	lnc-AC005392.1-1	chr19:43864837-43864995	ENSG00000272396.1
5	lnc-AC005392.1-1	chr19:43866622-43866779	ENSG00000272396.1

No data

Variant related genes	Relation type
ENSG00000272396	TF binding region
ENSG00000272396	CpG island

Extended variants
information (count: 857 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:857 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71350671	chr19:43860885-43860886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201826732	chr19:43861149-43861150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs62113737	chr19:43861201-43861202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62113738	chr19:43861214-43861215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199632537	chr19:43862455-43862456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs71337598	chr19:43862944-43862945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62113739	chr19:43862954-43862955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374183997	chr19:43862961-43862962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71337600	chr19:43862999-43863000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200730034	chr19:43863120-43863121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71337602	chr19:43863151-43863152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71339503	chr19:43863157-43863158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75406931	chr19:43863207-43863208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201378006	chr19:43863250-43863251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201836643	chr19:43863251-43863252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200047510	chr19:43863263-43863264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71339504	chr19:43863281-43863282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71339505	chr19:43863300-43863301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71339506	chr19:43863343-43863344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62113740	chr19:43863359-43863360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201507195	chr19:43863380-43863381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62113741	chr19:43863419-43863420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201795583	chr19:43863608-43863609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62113742	chr19:43863712-43863713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200324597	chr19:43863733-43863734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145042984	chr19:43863758-43863759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571801286	chr19:43863767-43863768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539851840	chr19:43863816-43863817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559672453	chr19:43863854-43863855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199745918	chr19:43863875-43863876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573899635	chr19:43863878-43863879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35420291	chr19:43863981-43863982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562783373	chr19:43863988-43863989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369103630	chr19:43864016-43864017	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551601529	chr19:43864041-43864042	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565422280	chr19:43864053-43864054	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185904161	chr19:43864099-43864100	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192050658	chr19:43864102-43864103	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183867593	chr19:43864110-43864111	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536968635	chr19:43864129-43864130	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77513223	chr19:43864132-43864133	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570307231	chr19:43864133-43864134	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs386809563	chr19:43864138-43864139	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35961424	chr19:43864140-43864141	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571012567	chr19:43864167-43864168	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143465401	chr19:43864169-43864170	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553366273	chr19:43864180-43864181	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573587711	chr19:43864185-43864186	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542582991	chr19:43864199-43864200	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147979602	chr19:43864209-43864210	Enhancers Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21509527	CNVD
Cancer	20164920	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21240255	CNVD
Lung squamous cell carcinoma	22363434	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43855800-43864200	Weak transcription	Right Atrium	heart
2	chr19:43859000-43864200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr19:43860000-43864200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr19:43860000-43864200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr19:43860200-43864000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr19:43862800-43873200	Weak transcription	Gastric	stomach
7	chr19:43863000-43864200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:43864000-43864600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr19:43864000-43864600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
10	chr19:43864200-43864600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
11	chr19:43864200-43864600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
12	chr19:43864200-43864600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr19:43864200-43864600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr19:43864200-43864600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:43864200-43864600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr19:43864200-43864600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
17	chr19:43864200-43864600	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr19:43864200-43864600	ZNF genes & repeats	Right Atrium	heart
19	chr19:43864600-43866200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr19:43864600-43866400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:43864600-43866400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr19:43864600-43867600	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr19:43864600-43868000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr19:43864600-43868200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr19:43866000-43866400	ZNF genes & repeats	Spleen	Spleen
26	chr19:43866000-43867000	Bivalent Enhancer	Fetal Stomach	stomach
27	chr19:43866200-43866400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr19:43866200-43867000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr19:43866200-43867000	Enhancers	Colonic Mucosa	Colon
30	chr19:43866200-43867000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr19:43866200-43867000	Enhancers	Osteobl	bone
32	chr19:43866200-43867200	Enhancers	NHLF	lung
33	chr19:43866200-43867400	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr19:43866400-43866600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr19:43866400-43866800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr19:43866400-43866800	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr19:43866400-43867000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr19:43866400-43867200	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr19:43866400-43868200	Weak transcription	Spleen	Spleen
40	chr19:43866600-43868000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr19:43866800-43868000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr19:43867200-43868200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr19:43867400-43870600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr19:43867600-43872000	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr19:43867800-43868000	Enhancers	Colonic Mucosa	Colon
46	chr19:43868000-43868400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
47	chr19:43868000-43868400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr19:43868000-43868400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr19:43868200-43868400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr19:43868200-43868400	Enhancers	Rectal Mucosa Donor 29	rectum

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