Variant report

Variant	nsv1055263
Chromosome Location	chr19:41360358-41397661
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:279)
CpG islands
(count:427)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:279 , 50 per page) page: 1 2 3 4 5 6

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	chr19:41379821-41380148	K562	blood:	n/a	n/a
10	CBX3	chr19:41381255-41381833	K562	blood:	n/a	n/a
11	CCNT2	chr19:41370582-41370786	K562	blood:	n/a	n/a
12	CEBPB	chr19:41378139-41378466	K562	blood:	n/a	n/a
13	CEBPB	chr19:41374056-41374100	A549	lung:	n/a	n/a
14	CEBPB	chr19:41370209-41371189	K562	blood:	n/a	chr19:41370433-41370441
15	CEBPB	chr19:41373920-41374208	K562	blood:	n/a	n/a
16	CEBPB	chr19:41367289-41367476	A549	lung:	n/a	n/a
17	CEBPB	chr19:41368480-41368982	A549	lung:	n/a	n/a
18	CEBPB	chr19:41378202-41378474	K562	blood:	n/a	n/a
19	CEBPB	chr19:41368761-41369068	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr19:41373834-41374300	A549	lung:	n/a	n/a
21	CEBPB	chr19:41370305-41370801	K562	blood:	n/a	chr19:41370433-41370441
22	CEBPB	chr19:41368416-41368601	K562	blood:	n/a	n/a
23	CEBPB	chr19:41370543-41370910	K562	blood:	n/a	n/a
24	CEBPB	chr19:41362024-41362201	K562	blood:	n/a	n/a
25	CEBPD	chr19:41370295-41371143	K562	blood:	n/a	n/a
26	CEBPD	chr19:41392214-41392550	K562	blood:	n/a	n/a
27	CEBPD	chr19:41370661-41370862	K562	blood:	n/a	n/a
28	CEBPZ	chr19:41395862-41395912	HepG2	liver:	n/a	n/a
29	CTCF	chr19:41386384-41386566	K562	blood:	n/a	n/a
30	CTCF	chr19:41368360-41368510	AG10803	skin:	n/a	n/a
31	CTCF	chr19:41368380-41368530	NHEK	skin:	n/a	n/a
32	CTCF	chr19:41381744-41381801	Spleen_OC	spleen:	n/a	n/a
33	CTCF	chr19:41386288-41386587	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr19:41368380-41368530	HEK293	kidney:	n/a	n/a
35	CTCF	chr19:41368380-41368530	HPAF	blood vessel:	n/a	n/a
36	CTCF	chr19:41364100-41364250	HEK293	kidney:	n/a	n/a
37	CTCF	chr19:41367560-41367710	K562	blood:	n/a	n/a
38	CTCF	chr19:41368500-41368650	NHLF	lung:	n/a	n/a
39	CTCF	chr19:41381740-41381820	GM13976	blood:	n/a	n/a
40	CTCF	chr19:41367440-41367590	K562	blood:	n/a	n/a
41	CTCF	chr19:41364222-41364240	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr19:41386301-41386581	K562	blood:	n/a	n/a
43	CTCF	chr19:41364113-41364398	K562	blood:	n/a	n/a
44	CTCF	chr19:41386284-41386617	K562	blood:	n/a	n/a
45	CTCF	chr19:41364081-41364360	K562	blood:	n/a	n/a
46	CTCF	chr19:41360550-41360556	Kidney_OC	kidney:	n/a	n/a
47	CTCF	chr19:41364080-41364230	A549	lung:	n/a	n/a
48	CTCF	chr19:41387561-41387588	LNCaP	prostate:	n/a	n/a
49	CTCF	chr19:41368260-41368410	HFF	foreskin:	n/a	n/a
50	CTCF	chr19:41368300-41368450	MCF-7	breast:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:41383654-41383704	SK-N-MC	brain:	n/a
2	chr19:41385865-41385915	BJ	skin:	n/a
3	chr19:41383654-41383704	BE2_C	brain:	n/a
4	chr19:41386507-41386557	HCF	heart:	n/a
5	chr19:41388232-41388282	MCF10A-Er-Src	breast:	n/a
6	chr19:41386441-41386491	ovcar-3	ovarian:	n/a
7	chr19:41385865-41385915	MCF10A-Er-Src	breast:	n/a
8	chr19:41385865-41385915	HMEC	breast:	n/a
9	chr19:41389684-41389734	T-47D	breast:	n/a
10	chr19:41388384-41388434	Hela-S3	cervix:	n/a
11	chr19:41385865-41385915	HCM	heart:	n/a
12	chr19:41386507-41386557	GM12892	blood:	n/a
13	chr19:41388232-41388282	HL-60	blood:	n/a
14	chr19:41388384-41388434	SKMC	muscle:	n/a
15	chr19:41386441-41386491	AG10803	skin:	n/a
16	chr19:41383654-41383704	NT2-D1	testis:	n/a
17	chr19:41389684-41389734	HEEpiC	esophagus:	n/a
18	chr19:41389684-41389734	HCF	heart:	n/a
19	chr19:41388384-41388434	HNPCEpiC	eye:	n/a
20	chr19:41386507-41386557	AG09319	gingival:	n/a
21	chr19:41388384-41388434	BJ	skin:	n/a
22	chr19:41388232-41388282	ProgFib	skin:	n/a
23	chr19:41386507-41386557	HCT-116	colon:	n/a
24	chr19:41386441-41386491	HL-60	blood:	n/a
25	chr19:41383654-41383704	SAEC	small airway:	n/a
26	chr19:41388232-41388282	H1-hESC	embryonic stem cell:	embryo
27	chr19:41386507-41386557	MCF-7	breast:	n/a
28	chr19:41388232-41388282	SKMC	muscle:	n/a
29	chr19:41388232-41388282	PANC-1	pancreas:	n/a
30	chr19:41385865-41385915	SAEC	small airway:	n/a
31	chr19:41388232-41388282	MCF-7	breast:	n/a
32	chr19:41389684-41389734	BE2_C	brain:	n/a
33	chr19:41388384-41388434	BE2_C	brain:	n/a
34	chr19:41389684-41389734	AG04450	lung:	fetal
35	chr19:41386441-41386491	GM12891	blood:	n/a
36	chr19:41383654-41383704	GM12891	blood:	n/a
37	chr19:41388232-41388282	NH-A	brain:	n/a
38	chr19:41385865-41385915	AG04449	skin:	fetal
39	chr19:41385865-41385915	HPAEpiC	pulmonary alveolar:	n/a
40	chr19:41388232-41388282	HAEpiC	amniotic membrane:	n/a
41	chr19:41386441-41386491	BJ	skin:	n/a
42	chr19:41383654-41383704	AG10803	skin:	n/a
43	chr19:41386507-41386557	T-47D	breast:	n/a
44	chr19:41386507-41386557	SK-N-MC	brain:	n/a
45	chr19:41389684-41389734	CMK	blood:	n/a
46	chr19:41386507-41386557	HAEpiC	amniotic membrane:	n/a
47	chr19:41388384-41388434	HRPEpiC	eye:	n/a
48	chr19:41385865-41385915	HCPEpiC	choroid plexus:	n/a
49	chr19:41388232-41388282	AG09319	gingival:	n/a
50	chr19:41386441-41386491	SK-N-SH_RA	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	chr19:41195484..41197379-chr19:41368669..41371255,2	K562	blood:
3	chr19:41369230..41371017-chr19:41372027..41374078,2	K562	blood:

No data

Variant related genes	Relation type
CYP2G1P	TF binding region
CYP2A6	TF binding region
CYP2A7	TF binding region
CYP2G1P	CpG island
CYP2A6	CpG island
CYP2A7	CpG island
ENSG00000105245	chromatin interactions

Extended variants
information (count: 1899 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1899 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547657467	chr19:41360361-41360362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566287574	chr19:41360369-41360370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536912355	chr19:41360370-41360371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535920396	chr19:41360372-41360373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555312091	chr19:41360382-41360383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576459634	chr19:41360411-41360412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537439747	chr19:41360461-41360462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559032409	chr19:41360507-41360508	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs577249588	chr19:41360526-41360527	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs541541575	chr19:41360638-41360639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199753395	chr19:41360681-41360682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189194512	chr19:41360740-41360741	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs574587414	chr19:41360807-41360808	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs541678011	chr19:41360827-41360828	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs563243039	chr19:41360850-41360851	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs34854739	chr19:41360864-41360865	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs375950858	chr19:41360880-41360881	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs551741682	chr19:41360888-41360889	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs181087711	chr19:41360900-41360901	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs112290689	chr19:41360907-41360908	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs140870245	chr19:41360909-41360910	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs540591779	chr19:41360974-41360975	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs566100268	chr19:41360985-41360986	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs7245647	chr19:41360998-41360999	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs145638254	chr19:41361027-41361028	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs370981437	chr19:41361031-41361032	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs370564375	chr19:41361049-41361050	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs577178276	chr19:41361097-41361098	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs537774684	chr19:41361159-41361160	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs558658248	chr19:41361164-41361165	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs113858546	chr19:41361200-41361201	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs184323074	chr19:41361210-41361211	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs534772109	chr19:41361215-41361216	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs113898468	chr19:41361234-41361235	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs140317732	chr19:41361274-41361275	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs537159970	chr19:41361305-41361306	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs145465996	chr19:41361350-41361351	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs562868022	chr19:41361358-41361359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190761659	chr19:41361383-41361384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556774267	chr19:41361431-41361432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575175872	chr19:41361450-41361451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545717204	chr19:41361470-41361471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11665953	chr19:41361490-41361491	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs199823424	chr19:41361570-41361571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528098650	chr19:41361571-41361572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539901299	chr19:41361572-41361573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs397958425	chr19:41361582-41361583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181842714	chr19:41361657-41361658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369250773	chr19:41361666-41361667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551007564	chr19:41361670-41361671	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:176 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41356400-41362000	Enhancers	Liver	Liver
2	chr19:41358800-41360800	Weak transcription	Stomach Mucosa	stomach
3	chr19:41360800-41361000	Enhancers	HSMMtube	muscle
4	chr19:41360800-41361200	Enhancers	Stomach Mucosa	stomach
5	chr19:41361000-41361600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr19:41361000-41361600	Enhancers	A549	lung
7	chr19:41361200-41361400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr19:41361400-41361800	Weak transcription	HSMMtube	muscle
9	chr19:41361400-41362400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr19:41361800-41362000	Enhancers	HSMMtube	muscle
11	chr19:41361800-41363000	Enhancers	Adipose Nuclei	Adipose
12	chr19:41362400-41368400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr19:41362800-41366000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr19:41363000-41368400	Weak transcription	Adipose Nuclei	Adipose
15	chr19:41363600-41370800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr19:41365000-41365200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr19:41365200-41368200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr19:41367000-41373800	Enhancers	K562	blood
19	chr19:41367400-41370000	Enhancers	Ovary	ovary
20	chr19:41368000-41368800	Enhancers	A549	lung
21	chr19:41368200-41368400	Weak transcription	Fetal Intestine Large	intestine
22	chr19:41368200-41368800	Enhancers	HSMM	muscle
23	chr19:41368200-41368800	Enhancers	HSMMtube	muscle
24	chr19:41368200-41369000	Enhancers	Liver	Liver
25	chr19:41368200-41369200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr19:41368200-41371000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr19:41368400-41368600	Enhancers	Fetal Intestine Large	intestine
28	chr19:41368400-41368800	Enhancers	Adipose Nuclei	Adipose
29	chr19:41368400-41369000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr19:41368400-41369000	Enhancers	Hela-S3	cervix
31	chr19:41368400-41371000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr19:41368600-41369000	Enhancers	Fetal Intestine Small	intestine
33	chr19:41368600-41370800	Weak transcription	Fetal Intestine Large	intestine
34	chr19:41368800-41370600	Weak transcription	A549	lung
35	chr19:41368800-41370800	Weak transcription	Adipose Nuclei	Adipose
36	chr19:41369000-41370800	Weak transcription	Fetal Intestine Small	intestine
37	chr19:41369800-41370000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr19:41370000-41370800	Weak transcription	Ovary	ovary
39	chr19:41370200-41371600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr19:41370600-41371000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr19:41370600-41371200	Enhancers	A549	lung
42	chr19:41370800-41371000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr19:41370800-41371000	Enhancers	Adipose Nuclei	Adipose
44	chr19:41370800-41371200	Enhancers	Ovary	ovary
45	chr19:41370800-41371400	Enhancers	Fetal Intestine Small	intestine
46	chr19:41370800-41371600	Enhancers	Fetal Intestine Large	intestine
47	chr19:41371200-41371600	Weak transcription	A549	lung
48	chr19:41371600-41372400	Enhancers	A549	lung
49	chr19:41372400-41372800	Flanking Active TSS	A549	lung
50	chr19:41372800-41374000	Weak transcription	A549	lung

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