Variant report

Variant	esv3368556
Chromosome Location	chr19:43121424-43180449
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	BATF	chr19:43132976-43133178	GM12878	blood:	n/a	chr19:43133094-43133104
3	BATF	chr19:43179178-43179402	GM12878	blood:	n/a	n/a
4	BCL11A	chr19:43179101-43179287	GM12878	blood:	n/a	n/a
5	BHLHE40	chr19:43139176-43139401	K562	blood:	n/a	n/a
6	BHLHE40	chr19:43138971-43139294	HepG2	liver:	n/a	n/a
7	BRCA1	chr19:43168346-43168356	GM12878	blood:	n/a	n/a
8	CBX3	chr19:43156238-43156476	K562	blood:	n/a	n/a
9	CEBPB	chr19:43139178-43139417	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr19:43156216-43156522	HepG2	liver:	n/a	chr19:43156349-43156360
11	CEBPB	chr19:43127742-43127805	HepG2	liver:	n/a	chr19:43127762-43127773
12	CEBPB	chr19:43139258-43139346	K562	blood:	n/a	n/a
13	CEBPB	chr19:43156174-43156554	A549	lung:	n/a	chr19:43156349-43156360
14	CEBPB	chr19:43128989-43129127	K562	blood:	n/a	n/a
15	CEBPB	chr19:43152306-43152361	IMR90	lung:	n/a	n/a
16	CEBPB	chr19:43150294-43150473	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chr19:43139100-43139262	K562	blood:	n/a	n/a
18	CTCF	chr19:43139200-43139350	HAc	cerebellar:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
19	CTCF	chr19:43166980-43167130	A549	lung:	n/a	n/a
20	CTCF	chr19:43138140-43138290	AG04450	lung:	n/a	n/a
21	CTCF	chr19:43139191-43139337	Kidney_OC	kidney:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
22	CTCF	chr19:43138994-43139012	MCF-7	breast:	n/a	n/a
23	CTCF	chr19:43139180-43139330	AG09309	skin:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
24	CTCF	chr19:43139220-43139370	GM12867	blood:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
25	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
26	CTCF	chr19:43139500-43139574	GM19239	blood:	n/a	n/a
27	CTCF	chr19:43146092-43146196	GM10248	blood:	n/a	n/a
28	CTCF	chr19:43139130-43139372	MCF-7	breast:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
29	CTCF	chr19:43139114-43139409	NHEK	skin:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
30	CTCF	chr19:43139220-43139370	HCM	heart:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
31	CTCF	chr19:43139090-43139385	H1-hESC	embryonic stem cell:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
32	CTCF	chr19:43139488-43139630	GM19240	blood:	n/a	n/a
33	CTCF	chr19:43139180-43139330	HepG2	liver:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
34	CTCF	chr19:43139200-43139350	HFF	foreskin:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
35	CTCF	chr19:43139200-43139350	HVMF	connective:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
36	CTCF	chr19:43139200-43139350	SAEC	small airway:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
37	CTCF	chr19:43139220-43139370	HRE	kidney:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
38	CTCF	chr19:43139180-43139330	HPAF	blood vessel:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
39	CTCF	chr19:43174832-43174940	MCF-7	breast:	n/a	n/a
40	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
41	CTCF	chr19:43139130-43139386	ProgFib	skin:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
42	CTCF	chr19:43138780-43138930	NHLF	lung:	n/a	n/a
43	CTCF	chr19:43139152-43139368	Spleen_OC	spleen:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
44	CTCF	chr19:43138873-43139584	HCT-116	colon:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
45	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
46	CTCF	chr19:43139200-43139350	HCPEpiC	choroid plexus:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
47	CTCF	chr19:43174810-43174946	MCF-7	breast:	n/a	n/a
48	CTCF	chr19:43139160-43139310	HA-sp	spinal cord:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
49	CTCF	chr19:43139220-43139370	GM12872	blood:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
50	CTCF	chr19:43139130-43139332	SK-N-SH_RA	brain:	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	chr19:43148558..43149434-chr20:53015100..53015659,2	MCF-7	breast:
3	chr19:43139185..43139985-chr19:43166999..43167914,2	MCF-7	breast:
4	chr19:43110921..43111495-chr19:43166501..43167328,2	MCF-7	breast:
5	chr19:43139185..43139985-chr19:43166999..43167914,2	MCF-7	breast:
6	chr19:43167897..43169449-chr19:43169988..43172834,2	MCF-7	breast:
7	chr19:43167897..43169449-chr19:43169988..43172834,2	MCF-7	breast:
8	chr19:43139154..43139986-chr19:43246322..43246897,2	MCF-7	breast:
9	chr19:43138891..43139734-chr19:43166436..43166942,2	MCF-7	breast:
10	chr19:43138891..43139734-chr19:43166436..43166942,2	MCF-7	breast:
11	chr19:43118862..43121094-chr19:43122600..43124613,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC011497.1-2	chr19:43155239-43156507	NONHSAT066548
2	lnc-AC011497.1-2	chr19:43155239-43156507	ENSG00000213904.4
3	lnc-AC011497.1-2	chr19:43155239-43156171	ENSG00000213904.4
4	lnc-AC011497.1-2	chr19:43155388-43155602	NONHSAT066564
5	lnc-AC011497.1-2	chr19:43155869-43156816	NONHSAT066564
6	lnc-AC011497.1-2	chr19:43155239-43156507	NONHSAT066551

Variant related genes	Relation type
CEACAMP1	TF binding region
RPS10P28	TF binding region
CEACAMP5	TF binding region
ENSG00000231561	chromatin interactions

Extended variants
information (count: 1443 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1443 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531103971	chr19:43121483-43121484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114539645	chr19:43121658-43121659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79544089	chr19:43121711-43121712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558804208	chr19:43121714-43121715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572258716	chr19:43121739-43121740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188647827	chr19:43121778-43121779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541391645	chr19:43121802-43121803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561289540	chr19:43121803-43121804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145575459	chr19:43121809-43121810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543918283	chr19:43121833-43121834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140321802	chr19:43121849-43121850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372355192	chr19:43121876-43121877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34048829	chr19:43121877-43121878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532740215	chr19:43121993-43121994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs8182473	chr19:43122007-43122008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181247057	chr19:43122027-43122028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186222395	chr19:43122060-43122061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs8182476	chr19:43122109-43122110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528780500	chr19:43122122-43122123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191129154	chr19:43122131-43122132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566904866	chr19:43122150-43122151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200301219	chr19:43122164-43122165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535869379	chr19:43122169-43122170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556220385	chr19:43122209-43122210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182370815	chr19:43122224-43122225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145433416	chr19:43122241-43122242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558477448	chr19:43122250-43122251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76932410	chr19:43122254-43122255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78119773	chr19:43122256-43122257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371041057	chr19:43122261-43122262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562134874	chr19:43122276-43122277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78282877	chr19:43122277-43122278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538430103	chr19:43122284-43122285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541352992	chr19:43122301-43122302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370647288	chr19:43122323-43122324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374923933	chr19:43122334-43122335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146462318	chr19:43122339-43122340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191000818	chr19:43122366-43122367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563796120	chr19:43122384-43122385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577278152	chr19:43122416-43122417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367566339	chr19:43122455-43122456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534663904	chr19:43122461-43122462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183202165	chr19:43122640-43122641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370210210	chr19:43122641-43122642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559711321	chr19:43122654-43122655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187450091	chr19:43122754-43122755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548449366	chr19:43122767-43122768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191437684	chr19:43122779-43122780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566853643	chr19:43122914-43122915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529631228	chr19:43123026-43123027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Cancer	20164920	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43118400-43135400	Weak transcription	Adipose Nuclei	Adipose
2	chr19:43130400-43130800	Enhancers	Liver	Liver
3	chr19:43132000-43137000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr19:43133800-43134000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr19:43134000-43135200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr19:43135200-43135400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr19:43135400-43135800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr19:43135400-43135800	Enhancers	Adipose Nuclei	Adipose
9	chr19:43135800-43136000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr19:43135800-43136200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr19:43137000-43139000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr19:43139000-43139600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr19:43139400-43139600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr19:43150400-43150600	ZNF genes & repeats	Brain Hippocampus Middle	brain
15	chr19:43150600-43159800	Weak transcription	Brain Hippocampus Middle	brain
16	chr19:43153200-43158000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr19:43154000-43154200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr19:43154400-43156000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr19:43154800-43159800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr19:43155200-43155400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr19:43155400-43156000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:43155400-43157600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr19:43155800-43157800	Weak transcription	Adipose Nuclei	Adipose
24	chr19:43156000-43156600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr19:43156000-43156600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr19:43156000-43162000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr19:43156400-43156800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr19:43156600-43159800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr19:43156800-43157800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr19:43157200-43158000	Enhancers	Esophagus	oesophagus
31	chr19:43157400-43157800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr19:43157400-43158600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr19:43157600-43160000	Weak transcription	Brain Angular Gyrus	brain
34	chr19:43157600-43160200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr19:43157800-43158000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr19:43157800-43158000	Enhancers	Pancreas	Pancrea
37	chr19:43157800-43158600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr19:43157800-43163000	Enhancers	Adipose Nuclei	Adipose
39	chr19:43158000-43158600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr19:43158200-43159800	Weak transcription	Pancreas	Pancrea
41	chr19:43158600-43162400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr19:43159200-43163000	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr19:43159400-43162000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr19:43159600-43159800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr19:43159800-43160000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr19:43159800-43160600	Enhancers	Pancreas	Pancrea
47	chr19:43159800-43161800	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr19:43159800-43161800	Enhancers	Brain Substantia Nigra	brain
49	chr19:43159800-43162000	Enhancers	Brain Hippocampus Middle	brain
50	chr19:43160000-43160400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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