Variant report

Variant	nsv978897
Chromosome Location	chr19:43137733-43151377
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	BACH1	chr19:43139260-43139326	K562	blood:	n/a	n/a
2	BHLHE40	chr19:43138971-43139294	HepG2	liver:	n/a	n/a
3	BHLHE40	chr19:43139176-43139401	K562	blood:	n/a	n/a
4	CEBPB	chr19:43150294-43150473	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr19:43139258-43139346	K562	blood:	n/a	n/a
6	CEBPB	chr19:43139178-43139417	Hela-S3	cervix:	n/a	n/a
7	CHD2	chr19:43139100-43139262	K562	blood:	n/a	n/a
8	CTCF	chr19:43139487-43139606	GM12891	blood:	n/a	n/a
9	CTCF	chr19:43138859-43139492	SK-N-SH	brain:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
10	CTCF	chr19:43139200-43139350	GM12865	blood:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
11	CTCF	chr19:43139144-43139378	GM10248	blood:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
12	CTCF	chr19:43139200-43139350	NHEK	skin:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
13	CTCF	chr19:43139200-43139350	HCPEpiC	choroid plexus:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
14	CTCF	chr19:43139220-43139370	GM12867	blood:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
15	CTCF	chr19:43139200-43139350	MCF-7	breast:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
16	CTCF	chr19:43139525-43139584	GM12892	blood:	n/a	n/a
17	CTCF	chr19:43138936-43139008	Fibrobl	skin:	n/a	n/a
18	CTCF	chr19:43139160-43139404	H1-hESC	embryonic stem cell:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
19	CTCF	chr19:43139200-43139350	WERI-Rb-1	eye:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
20	CTCF	chr19:43139160-43139310	GM12871	blood:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
21	CTCF	chr19:43139200-43139350	GM12866	blood:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
22	CTCF	chr19:43139200-43139350	BE2_C	brain:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
23	CTCF	chr19:43139180-43139330	HUVEC	blood vessel:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
24	CTCF	chr19:43139200-43139350	NHDF-neo	bronchial:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
25	CTCF	chr19:43139200-43139350	Hela-S3	cervix:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
26	CTCF	chr19:43139220-43139370	SAEC	small airway:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
27	CTCF	chr19:43138840-43138990	HL-60	blood:	n/a	n/a
28	CTCF	chr19:43139220-43139370	HRE	kidney:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
29	CTCF	chr19:43139130-43139386	ProgFib	skin:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
30	CTCF	chr19:43139191-43139337	Kidney_OC	kidney:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
31	CTCF	chr19:43138926-43139404	GM19238	blood:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
32	CTCF	chr19:43139180-43139330	K562	blood:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
33	CTCF	chr19:43139180-43139330	GM06990	blood:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
34	CTCF	chr19:43139180-43139330	Caco-2	colon:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
35	CTCF	chr19:43139440-43139590	GM12866	blood:	n/a	n/a
36	CTCF	chr19:43139140-43139400	HepG2	liver:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
37	CTCF	chr19:43139013-43139022	MCF-7	breast:	n/a	n/a
38	CTCF	chr19:43139180-43139330	SK-N-SH_RA	brain:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
39	CTCF	chr19:43139180-43139330	HBMEC	blood vessel:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
40	CTCF	chr19:43138925-43139430	GM12892	blood:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
41	CTCF	chr19:43139160-43139310	NHLF	lung:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
42	CTCF	chr19:43139200-43139350	HRPEpiC	eye:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
43	CTCF	chr19:43139126-43139366	SK-N-SH_RA	brain:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
44	CTCF	chr19:43138109-43139994	A549	lung:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275 chr19:43139730-43139739 chr19:43139727-43139740
45	CTCF	chr19:43139146-43139373	MCF-7	breast:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
46	CTCF	chr19:43139180-43139330	HCT-116	colon:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
47	CTCF	chr19:43138873-43139584	HCT-116	colon:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
48	CTCF	chr19:43139180-43139330	GM12869	blood:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
49	CTCF	chr19:43139200-43139350	HL-60	blood:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
50	CTCF	chr19:43139180-43139330	HMF	breast:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275

No.	Distal block	Cell Line	Cell type
1	chr19:43149390..43151656-chr19:43158079..43159963,2	MCF-7	breast:
2	chr19:43139185..43139985-chr19:43166999..43167914,2	MCF-7	breast:
3	chr19:43139154..43139986-chr19:43246322..43246897,2	MCF-7	breast:
4	chr19:43148558..43149434-chr20:53015100..53015659,2	MCF-7	breast:
5	chr19:43138891..43139734-chr19:43166436..43166942,2	MCF-7	breast:

Variant related genes	Relation type
CEACAMP1	TF binding region
ENSG00000231561	chromatin interactions

Extended variants
information (count: 125 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190736657	chr19:43137735-43137736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537122933	chr19:43137762-43137763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557064490	chr19:43137818-43137819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560328668	chr19:43137824-43137825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182025045	chr19:43137849-43137850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539651093	chr19:43137896-43137897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553352546	chr19:43137922-43137923	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs566273708	chr19:43137985-43137986	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs573499164	chr19:43138027-43138028	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs540642735	chr19:43138028-43138029	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs560918536	chr19:43138098-43138099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187237675	chr19:43138230-43138231	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs574384015	chr19:43138282-43138283	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs9304605	chr19:43138308-43138309	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs563420399	chr19:43138319-43138320	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs532298427	chr19:43138358-43138359	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs189029683	chr19:43138432-43138433	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs558083745	chr19:43138449-43138450	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs559349393	chr19:43138457-43138458	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs145092815	chr19:43138483-43138484	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs112286253	chr19:43138543-43138544	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs147567388	chr19:43138556-43138557	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs542810971	chr19:43138586-43138587	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs576454585	chr19:43138594-43138595	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs77795375	chr19:43138601-43138602	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs370936895	chr19:43138735-43138736	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs181380941	chr19:43138736-43138737	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs185519768	chr19:43138886-43138887	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs539611462	chr19:43138908-43138909	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs73932756	chr19:43138975-43138976	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs543557878	chr19:43139011-43139012	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs147752199	chr19:43139028-43139029	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs190081311	chr19:43139065-43139066	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs555827372	chr19:43139078-43139079	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs182354542	chr19:43139109-43139110	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs574481182	chr19:43139172-43139173	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs543444824	chr19:43139189-43139190	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs563331425	chr19:43139228-43139229	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs377593312	chr19:43139255-43139256	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs141095789	chr19:43139260-43139261	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs545991143	chr19:43139280-43139281	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs10402401	chr19:43139284-43139285	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs370751840	chr19:43139320-43139321	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs548453034	chr19:43139350-43139351	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs11669892	chr19:43139352-43139353	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs530776563	chr19:43139354-43139355	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs117317718	chr19:43139357-43139358	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs570584826	chr19:43139451-43139452	Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs533232825	chr19:43139511-43139512	Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs10404509	chr19:43139521-43139522	Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:62)

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
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43137000-43139000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr19:43139000-43139600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr19:43139400-43139600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr19:43150400-43150600	ZNF genes & repeats	Brain Hippocampus Middle	brain
5	chr19:43150600-43159800	Weak transcription	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links