Variant report

Variant	nsv579564
Chromosome Location	chr19:41356319-41384578
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:243)
CpG islands
(count:62)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:243 , 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	chr19:41370633-41370945	K562	blood:	n/a	n/a
2	ARID3A	chr19:41378197-41378436	K562	blood:	n/a	n/a
3	ATF1	chr19:41378237-41378485	K562	blood:	n/a	n/a
4	ATF1	chr19:41370536-41370948	K562	blood:	n/a	n/a
5	ATF3	chr19:41370620-41370877	K562	blood:	n/a	n/a
6	ATF3	chr19:41378141-41378430	K562	blood:	n/a	n/a
7	CBX3	chr19:41370123-41371107	K562	blood:	n/a	n/a
8	CBX3	chr19:41381255-41381833	K562	blood:	n/a	n/a
9	CBX3	chr19:41379769-41380227	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	chr19:41368416-41368601	K562	blood:	n/a	n/a
13	CEBPB	chr19:41362024-41362201	K562	blood:	n/a	n/a
14	CEBPB	chr19:41368761-41369068	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr19:41370209-41371189	K562	blood:	n/a	chr19:41370433-41370441
16	CEBPB	chr19:41368480-41368982	A549	lung:	n/a	n/a
17	CEBPB	chr19:41370543-41370910	K562	blood:	n/a	n/a
18	CEBPB	chr19:41373920-41374208	K562	blood:	n/a	n/a
19	CEBPB	chr19:41378139-41378466	K562	blood:	n/a	n/a
20	CEBPB	chr19:41367289-41367476	A549	lung:	n/a	n/a
21	CEBPB	chr19:41373834-41374300	A549	lung:	n/a	n/a
22	CEBPB	chr19:41374056-41374100	A549	lung:	n/a	n/a
23	CEBPB	chr19:41370305-41370801	K562	blood:	n/a	chr19:41370433-41370441
24	CEBPB	chr19:41378202-41378474	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	chr19:41368540-41368690	AoAF	blood vessel:	n/a	n/a
28	CTCF	chr19:41368300-41368450	AoAF	blood vessel:	n/a	n/a
29	CTCF	chr19:41368260-41368410	HFF	foreskin:	n/a	n/a
30	CTCF	chr19:41364081-41364360	K562	blood:	n/a	n/a
31	CTCF	chr19:41367440-41367590	K562	blood:	n/a	n/a
32	CTCF	chr19:41364037-41364460	MCF-7	breast:	n/a	n/a
33	CTCF	chr19:41368340-41368490	MCF-7	breast:	n/a	n/a
34	CTCF	chr19:41364100-41364250	HEK293	kidney:	n/a	n/a
35	CTCF	chr19:41362907-41362927	GM20000	blood:	n/a	n/a
36	CTCF	chr19:41364147-41364298	K562	blood:	n/a	n/a
37	CTCF	chr19:41368300-41368450	MCF-7	breast:	n/a	n/a
38	CTCF	chr19:41368400-41368550	HBMEC	blood vessel:	n/a	n/a
39	CTCF	chr19:41368440-41368590	HCFaa	heart:	n/a	n/a
40	CTCF	chr19:41364072-41364366	K562	blood:	n/a	n/a
41	CTCF	chr19:41381744-41381801	Spleen_OC	spleen:	n/a	n/a
42	CTCF	chr19:41368340-41368490	HPAF	blood vessel:	n/a	n/a
43	CTCF	chr19:41360102-41360175	K562	blood:	n/a	n/a
44	CTCF	chr19:41364222-41364240	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr19:41368380-41368530	K562	blood:	n/a	n/a
46	CTCF	chr19:41368360-41368510	HMF	breast:	n/a	n/a
47	CTCF	chr19:41357383-41357402	GM13976	blood:	n/a	n/a
48	CTCF	chr19:41368340-41368490	NHDF-neo	bronchial:	n/a	n/a
49	CTCF	chr19:41364120-41364270	K562	blood:	n/a	n/a
50	CTCF	chr19:41360494-41360547	Kidney_OC	kidney:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:41383654-41383704	RPTEC	kidney:	n/a
2	chr19:41383654-41383704	RPTEC	kidney:	n/a
3	chr19:41383654-41383704	IMR90	lung:	fetal
4	chr19:41383654-41383704	PrEC	prostate:	n/a
5	chr19:41383654-41383704	NHDF-neo	bronchial:	n/a
6	chr19:41383654-41383704	HPAEpiC	pulmonary alveolar:	n/a
7	chr19:41383654-41383704	GM06990	blood:	n/a
8	chr19:41383654-41383704	Hela-S3	cervix:	n/a
9	chr19:41383654-41383704	HNPCEpiC	eye:	n/a
10	chr19:41383654-41383704	HEEpiC	esophagus:	n/a
11	chr19:41383654-41383704	NB4	blood:	n/a
12	chr19:41383654-41383704	GM12891	blood:	n/a
13	chr19:41383654-41383704	H1-hESC	embryonic stem cell:	embryo
14	chr19:41383654-41383704	NHBE	bronchial:	n/a
15	chr19:41383654-41383704	Hepatocyte	liver:	n/a
16	chr19:41383654-41383704	NT2-D1	testis:	n/a
17	chr19:41383654-41383704	GM12892	blood:	n/a
18	chr19:41383654-41383704	AG09309	skin:	n/a
19	chr19:41383654-41383704	AG10803	skin:	n/a
20	chr19:41383654-41383704	CMK	blood:	n/a
21	chr19:41383654-41383704	T-47D	breast:	n/a
22	chr19:41383654-41383704	SK-N-MC	brain:	n/a
23	chr19:41383654-41383704	HRPEpiC	eye:	n/a
24	chr19:41383654-41383704	HCT-116	colon:	n/a
25	chr19:41383654-41383704	K562	blood:	n/a
26	chr19:41383654-41383704	HEK293	kidney:	embryo
27	chr19:41383654-41383704	ProgFib	skin:	n/a
28	chr19:41383654-41383704	A549	lung:	n/a
29	chr19:41383654-41383704	LNCaP	prostate:	n/a
30	chr19:41383654-41383704	HAEpiC	amniotic membrane:	n/a
31	chr19:41383654-41383704	ovcar-3	ovarian:	n/a
32	chr19:41383654-41383704	AoSMC	blood vessel:	n/a
33	chr19:41383654-41383704	HCM	heart:	n/a
34	chr19:41383654-41383704	PFSK-1	brain:	n/a
35	chr19:41383654-41383704	MCF-7	breast:	n/a
36	chr19:41383654-41383704	Caco-2	colon:	n/a
37	chr19:41383654-41383704	HRE	kidney:	n/a
38	chr19:41383654-41383704	HCF	heart:	n/a
39	chr19:41383654-41383704	HRCEpiC	kidney:	n/a
40	chr19:41383654-41383704	SK-N-SH_RA	brain:	n/a
41	chr19:41383654-41383704	HCPEpiC	choroid plexus:	n/a
42	chr19:41383654-41383704	HepG2	liver:	n/a
43	chr19:41383654-41383704	GM19239	blood:	n/a
44	chr19:41383654-41383704	ECC-1	luminal epithelium:	n/a
45	chr19:41383654-41383704	AG04450	lung:	fetal
46	chr19:41383654-41383704	SK-N-SH	brain:	n/a
47	chr19:41383654-41383704	HMEC	breast:	n/a
48	chr19:41383654-41383704	SAEC	small airway:	n/a
49	chr19:41383654-41383704	GM12878	blood:	n/a
50	chr19:41383654-41383704	BE2_C	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr19:41369230..41371017-chr19:41372027..41374078,2	K562	blood:
2	chr19:41369230..41371017-chr19:41372027..41374078,2	K562	blood:
3	chr19:41195484..41197379-chr19:41368669..41371255,2	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: 1304 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1304 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28399434	chr19:41356319-41356320	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530706018	chr19:41356323-41356324	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201793905	chr19:41356358-41356359	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs28399433	chr19:41356379-41356380	Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs373933186	chr19:41356405-41356406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528755675	chr19:41356423-41356424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547290288	chr19:41356425-41356426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183167151	chr19:41356442-41356443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112069025	chr19:41356499-41356500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368656396	chr19:41356523-41356524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535847711	chr19:41356570-41356571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556984751	chr19:41356589-41356590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569002462	chr19:41356590-41356591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539580985	chr19:41356600-41356601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186024388	chr19:41356689-41356690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573015936	chr19:41356702-41356703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190348643	chr19:41356707-41356708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182566222	chr19:41356708-41356709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569889026	chr19:41356714-41356715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs67568271	chr19:41356726-41356727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562506201	chr19:41356737-41356738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10418304	chr19:41356751-41356752	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs192552732	chr19:41356758-41356759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564640438	chr19:41356768-41356769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555709726	chr19:41356769-41356770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528697338	chr19:41356776-41356777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562381560	chr19:41356801-41356802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546932947	chr19:41356806-41356807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115421560	chr19:41356808-41356809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529600600	chr19:41356809-41356810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550546868	chr19:41356810-41356811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567179885	chr19:41356813-41356814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568939213	chr19:41356822-41356823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371984288	chr19:41356826-41356827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539519931	chr19:41356853-41356854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11669236	chr19:41356909-41356910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147001205	chr19:41356918-41356919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566507807	chr19:41356920-41356921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530101810	chr19:41356941-41356942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199734088	chr19:41356951-41356952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs3797220	chr19:41356956-41356957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533992650	chr19:41356981-41356982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs3822484	chr19:41357017-41357018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555319006	chr19:41357021-41357022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2545784	chr19:41357052-41357053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116090491	chr19:41357064-41357065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2892625	chr19:41357075-41357076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61663607	chr19:41357076-41357077	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs2545785	chr19:41357087-41357088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs3956340	chr19:41357098-41357099	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:143 , 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	chr19:41356000-41356800	Enhancers	Fetal Intestine Large	intestine
5	chr19:41356400-41362000	Enhancers	Liver	Liver
6	chr19:41356800-41358400	Weak transcription	Fetal Intestine Large	intestine
7	chr19:41358400-41359200	Enhancers	Fetal Intestine Large	intestine
8	chr19:41358600-41358800	Enhancers	Stomach Mucosa	stomach
9	chr19:41358800-41360800	Weak transcription	Stomach Mucosa	stomach
10	chr19:41359600-41359800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr19:41360800-41361000	Enhancers	HSMMtube	muscle
12	chr19:41360800-41361200	Enhancers	Stomach Mucosa	stomach
13	chr19:41361000-41361600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr19:41361000-41361600	Enhancers	A549	lung
15	chr19:41361200-41361400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr19:41361400-41361800	Weak transcription	HSMMtube	muscle
17	chr19:41361400-41362400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr19:41361800-41362000	Enhancers	HSMMtube	muscle
19	chr19:41361800-41363000	Enhancers	Adipose Nuclei	Adipose
20	chr19:41362400-41368400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr19:41362800-41366000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr19:41363000-41368400	Weak transcription	Adipose Nuclei	Adipose
23	chr19:41363600-41370800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr19:41365000-41365200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr19:41365200-41368200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr19:41367000-41373800	Enhancers	K562	blood
27	chr19:41367400-41370000	Enhancers	Ovary	ovary
28	chr19:41368000-41368800	Enhancers	A549	lung
29	chr19:41368200-41368400	Weak transcription	Fetal Intestine Large	intestine
30	chr19:41368200-41368800	Enhancers	HSMM	muscle
31	chr19:41368200-41368800	Enhancers	HSMMtube	muscle
32	chr19:41368200-41369000	Enhancers	Liver	Liver
33	chr19:41368200-41369200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr19:41368200-41371000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr19:41368400-41368600	Enhancers	Fetal Intestine Large	intestine
36	chr19:41368400-41368800	Enhancers	Adipose Nuclei	Adipose
37	chr19:41368400-41369000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr19:41368400-41369000	Enhancers	Hela-S3	cervix
39	chr19:41368400-41371000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr19:41368600-41369000	Enhancers	Fetal Intestine Small	intestine
41	chr19:41368600-41370800	Weak transcription	Fetal Intestine Large	intestine
42	chr19:41368800-41370600	Weak transcription	A549	lung
43	chr19:41368800-41370800	Weak transcription	Adipose Nuclei	Adipose
44	chr19:41369000-41370800	Weak transcription	Fetal Intestine Small	intestine
45	chr19:41369800-41370000	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr19:41370000-41370800	Weak transcription	Ovary	ovary
47	chr19:41370200-41371600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr19:41370600-41371000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr19:41370600-41371200	Enhancers	A549	lung
50	chr19:41370800-41371000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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