Variant report

Variant	esv3513048
Chromosome Location	chr19:41355809-41385227
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:244)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:41378197-41378436	K562	blood:	n/a	n/a
2	ARID3A	chr19:41370633-41370945	K562	blood:	n/a	n/a
3	ATF1	chr19:41370536-41370948	K562	blood:	n/a	n/a
4	ATF1	chr19:41378237-41378485	K562	blood:	n/a	n/a
5	ATF3	chr19:41378141-41378430	K562	blood:	n/a	n/a
6	ATF3	chr19:41370620-41370877	K562	blood:	n/a	n/a
7	CBX3	chr19:41379769-41380227	K562	blood:	n/a	n/a
8	CBX3	chr19:41370123-41371107	K562	blood:	n/a	n/a
9	CBX3	chr19:41381255-41381833	K562	blood:	n/a	n/a
10	CBX3	chr19:41379821-41380148	K562	blood:	n/a	n/a
11	CCNT2	chr19:41370582-41370786	K562	blood:	n/a	n/a
12	CEBPB	chr19:41367289-41367476	A549	lung:	n/a	n/a
13	CEBPB	chr19:41368761-41369068	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr19:41370209-41371189	K562	blood:	n/a	chr19:41370433-41370441
15	CEBPB	chr19:41378139-41378466	K562	blood:	n/a	n/a
16	CEBPB	chr19:41368480-41368982	A549	lung:	n/a	n/a
17	CEBPB	chr19:41370305-41370801	K562	blood:	n/a	chr19:41370433-41370441
18	CEBPB	chr19:41370543-41370910	K562	blood:	n/a	n/a
19	CEBPB	chr19:41374056-41374100	A549	lung:	n/a	n/a
20	CEBPB	chr19:41368416-41368601	K562	blood:	n/a	n/a
21	CEBPB	chr19:41373834-41374300	A549	lung:	n/a	n/a
22	CEBPB	chr19:41362024-41362201	K562	blood:	n/a	n/a
23	CEBPB	chr19:41378202-41378474	K562	blood:	n/a	n/a
24	CEBPB	chr19:41373920-41374208	K562	blood:	n/a	n/a
25	CEBPD	chr19:41370295-41371143	K562	blood:	n/a	n/a
26	CEBPD	chr19:41370661-41370862	K562	blood:	n/a	n/a
27	CTCF	chr19:41364003-41364428	K562	blood:	n/a	n/a
28	CTCF	chr19:41368140-41368290	NHDF-neo	bronchial:	n/a	n/a
29	CTCF	chr19:41364113-41364398	K562	blood:	n/a	n/a
30	CTCF	chr19:41368380-41368530	A549	lung:	n/a	n/a
31	CTCF	chr19:41368360-41368510	AG10803	skin:	n/a	n/a
32	CTCF	chr19:41368260-41368410	HVMF	connective:	n/a	n/a
33	CTCF	chr19:41368380-41368530	HEK293	kidney:	n/a	n/a
34	CTCF	chr19:41360102-41360175	K562	blood:	n/a	n/a
35	CTCF	chr19:41368260-41368410	HFF	foreskin:	n/a	n/a
36	CTCF	chr19:41368440-41368590	HCFaa	heart:	n/a	n/a
37	CTCF	chr19:41362907-41362927	GM20000	blood:	n/a	n/a
38	CTCF	chr19:41364081-41364360	K562	blood:	n/a	n/a
39	CTCF	chr19:41368340-41368490	NHDF-neo	bronchial:	n/a	n/a
40	CTCF	chr19:41364100-41364250	HEK293	kidney:	n/a	n/a
41	CTCF	chr19:41368400-41368550	HBMEC	blood vessel:	n/a	n/a
42	CTCF	chr19:41368380-41368530	HPAF	blood vessel:	n/a	n/a
43	CTCF	chr19:41368500-41368650	NHLF	lung:	n/a	n/a
44	CTCF	chr19:41364037-41364460	MCF-7	breast:	n/a	n/a
45	CTCF	chr19:41368360-41368510	K562	blood:	n/a	n/a
46	CTCF	chr19:41364147-41364298	K562	blood:	n/a	n/a
47	CTCF	chr19:41368660-41368810	A549	lung:	n/a	n/a
48	CTCF	chr19:41368320-41368470	HVMF	connective:	n/a	n/a
49	CTCF	chr19:41381740-41381820	GM13976	blood:	n/a	n/a
50	CTCF	chr19:41368340-41368490	MCF-7	breast:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:41355973-41356023	HRPEpiC	eye:	n/a
2	chr19:41383654-41383704	AG09309	skin:	n/a
3	chr19:41383654-41383704	HepG2	liver:	n/a
4	chr19:41383654-41383704	AG04449	skin:	fetal
5	chr19:41383654-41383704	HPAEpiC	pulmonary alveolar:	n/a
6	chr19:41383654-41383704	AG04450	lung:	fetal
7	chr19:41383654-41383704	NHBE	bronchial:	n/a
8	chr19:41383654-41383704	SKMC	muscle:	n/a
9	chr19:41383654-41383704	BE2_C	brain:	n/a
10	chr19:41355973-41356023	Caco-2	colon:	n/a
11	chr19:41355973-41356023	ProgFib	skin:	n/a
12	chr19:41383654-41383704	Caco-2	colon:	n/a
13	chr19:41355973-41356023	AG09319	gingival:	n/a
14	chr19:41383654-41383704	GM12891	blood:	n/a
15	chr19:41355973-41356023	H1-hESC	embryonic stem cell:	embryo
16	chr19:41383654-41383704	IMR90	lung:	fetal
17	chr19:41355973-41356023	SK-N-MC	brain:	n/a
18	chr19:41383654-41383704	HCPEpiC	choroid plexus:	n/a
19	chr19:41383654-41383704	H1-hESC	embryonic stem cell:	embryo
20	chr19:41355973-41356023	NHBE	bronchial:	n/a
21	chr19:41383654-41383704	GM12892	blood:	n/a
22	chr19:41355973-41356023	HIPEpiC	eye:	n/a
23	chr19:41383654-41383704	ProgFib	skin:	n/a
24	chr19:41383654-41383704	SK-N-SH_RA	brain:	n/a
25	chr19:41383654-41383704	PANC-1	pancreas:	n/a
26	chr19:41355973-41356023	MCF10A-Er-Src	breast:	n/a
27	chr19:41355973-41356023	GM12891	blood:	n/a
28	chr19:41383654-41383704	U87	brain:	n/a
29	chr19:41355973-41356023	AG04449	skin:	fetal
30	chr19:41383654-41383704	BJ	skin:	n/a
31	chr19:41383654-41383704	HRCEpiC	kidney:	n/a
32	chr19:41355973-41356023	RPTEC	kidney:	n/a
33	chr19:41383654-41383704	SK-N-SH	brain:	n/a
34	chr19:41383654-41383704	AG10803	skin:	n/a
35	chr19:41383654-41383704	SK-N-MC	brain:	n/a
36	chr19:41355973-41356023	LNCaP	prostate:	n/a
37	chr19:41355973-41356023	U87	brain:	n/a
38	chr19:41383654-41383704	Hepatocyte	liver:	n/a
39	chr19:41355973-41356023	Hepatocyte	liver:	n/a
40	chr19:41355973-41356023	Hela-S3	cervix:	n/a
41	chr19:41355973-41356023	HL-60	blood:	n/a
42	chr19:41383654-41383704	A549	lung:	n/a
43	chr19:41383654-41383704	RPTEC	kidney:	n/a
44	chr19:41383654-41383704	HEK293	kidney:	embryo
45	chr19:41355973-41356023	GM06990	blood:	n/a
46	chr19:41355973-41356023	AoSMC	blood vessel:	n/a
47	chr19:41383654-41383704	HAEpiC	amniotic membrane:	n/a
48	chr19:41383654-41383704	NB4	blood:	n/a
49	chr19:41355973-41356023	HCF	heart:	n/a
50	chr19:41355973-41356023	ECC-1	luminal epithelium:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr19:41195484..41197379-chr19:41368669..41371255,2	K562	blood:
2	chr19:41369230..41371017-chr19:41372027..41374078,2	K562	blood:
3	chr19:41369230..41371017-chr19:41372027..41374078,2	K562	blood:

No data

Variant related genes	Relation type
CYP2A6	TF binding region
CYP2A7	TF binding region
CYP2A6	CpG island
CYP2A7	CpG island
ENSG00000105245	chromatin interactions

Extended variants
information (count: 1406 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1406 , 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	rs148202548	chr19:41355817-41355818	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs199702575	chr19:41355820-41355821	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142692109	chr19:41355825-41355826	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200582200	chr19:41355828-41355829	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147022782	chr19:41355832-41355833	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201250423	chr19:41355836-41355837	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201833760	chr19:41355838-41355839	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2302990	chr19:41355849-41355850	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143690364	chr19:41355864-41355865	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72549433	chr19:41355865-41355866	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs374515279	chr19:41355875-41355876	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199515342	chr19:41355876-41355877	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200554095	chr19:41355885-41355886	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376970015	chr19:41355896-41355897	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368758891	chr19:41355901-41355902	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371735894	chr19:41355904-41355905	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545654135	chr19:41355909-41355910	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs28399438	chr19:41355919-41355920	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs56360274	chr19:41355924-41355925	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111368201	chr19:41355933-41355934	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28399437	chr19:41355944-41355945	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546270627	chr19:41355978-41355979	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563765909	chr19:41355987-41355988	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs8192724	chr19:41355999-41356000	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141128348	chr19:41356049-41356050	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs8192723	chr19:41356054-41356055	Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs191965231	chr19:41356055-41356056	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570229222	chr19:41356080-41356081	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28399436	chr19:41356095-41356096	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369357668	chr19:41356117-41356118	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140179029	chr19:41356122-41356123	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs8192722	chr19:41356123-41356124	Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs535366981	chr19:41356132-41356133	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553074588	chr19:41356134-41356135	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369561609	chr19:41356138-41356139	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374253823	chr19:41356183-41356184	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs56283800	chr19:41356188-41356189	Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs139344949	chr19:41356197-41356198	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144279119	chr19:41356201-41356202	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575050301	chr19:41356204-41356205	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558145012	chr19:41356225-41356226	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112784824	chr19:41356227-41356228	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377713545	chr19:41356228-41356229	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370019771	chr19:41356245-41356246	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28399435	chr19:41356246-41356247	Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs372992538	chr19:41356250-41356251	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563981730	chr19:41356253-41356254	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376218645	chr19:41356257-41356258	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139764932	chr19:41356263-41356264	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546724333	chr19:41356269-41356270	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Ovarian cancer	22174824	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
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41354600-41356400	Active TSS	Liver	Liver
2	chr19:41354800-41357800	Weak transcription	Spleen	Spleen
3	chr19:41354800-41358200	Weak transcription	Right Atrium	heart
4	chr19:41355000-41356000	Weak transcription	Fetal Intestine Large	intestine
5	chr19:41356000-41356200	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr19:41356000-41356800	Enhancers	Fetal Intestine Large	intestine
7	chr19:41356400-41362000	Enhancers	Liver	Liver
8	chr19:41356800-41358400	Weak transcription	Fetal Intestine Large	intestine
9	chr19:41358400-41359200	Enhancers	Fetal Intestine Large	intestine
10	chr19:41358600-41358800	Enhancers	Stomach Mucosa	stomach
11	chr19:41358800-41360800	Weak transcription	Stomach Mucosa	stomach
12	chr19:41359600-41359800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr19:41360800-41361000	Enhancers	HSMMtube	muscle
14	chr19:41360800-41361200	Enhancers	Stomach Mucosa	stomach
15	chr19:41361000-41361600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr19:41361000-41361600	Enhancers	A549	lung
17	chr19:41361200-41361400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr19:41361400-41361800	Weak transcription	HSMMtube	muscle
19	chr19:41361400-41362400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr19:41361800-41362000	Enhancers	HSMMtube	muscle
21	chr19:41361800-41363000	Enhancers	Adipose Nuclei	Adipose
22	chr19:41362400-41368400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr19:41362800-41366000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr19:41363000-41368400	Weak transcription	Adipose Nuclei	Adipose
25	chr19:41363600-41370800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr19:41365000-41365200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr19:41365200-41368200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr19:41367000-41373800	Enhancers	K562	blood
29	chr19:41367400-41370000	Enhancers	Ovary	ovary
30	chr19:41368000-41368800	Enhancers	A549	lung
31	chr19:41368200-41368400	Weak transcription	Fetal Intestine Large	intestine
32	chr19:41368200-41368800	Enhancers	HSMM	muscle
33	chr19:41368200-41368800	Enhancers	HSMMtube	muscle
34	chr19:41368200-41369000	Enhancers	Liver	Liver
35	chr19:41368200-41369200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr19:41368200-41371000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr19:41368400-41368600	Enhancers	Fetal Intestine Large	intestine
38	chr19:41368400-41368800	Enhancers	Adipose Nuclei	Adipose
39	chr19:41368400-41369000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr19:41368400-41369000	Enhancers	Hela-S3	cervix
41	chr19:41368400-41371000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr19:41368600-41369000	Enhancers	Fetal Intestine Small	intestine
43	chr19:41368600-41370800	Weak transcription	Fetal Intestine Large	intestine
44	chr19:41368800-41370600	Weak transcription	A549	lung
45	chr19:41368800-41370800	Weak transcription	Adipose Nuclei	Adipose
46	chr19:41369000-41370800	Weak transcription	Fetal Intestine Small	intestine
47	chr19:41369800-41370000	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr19:41370000-41370800	Weak transcription	Ovary	ovary
49	chr19:41370200-41371600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr19:41370600-41371000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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