Variant report

Variant	nsv1061654
Chromosome Location	chr19:41361082-41392885
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:267)
CpG islands
(count:427)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:267 , 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	chr19:41378237-41378485	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	chr19:41379769-41380227	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	chr19:41368416-41368601	K562	blood:	n/a	n/a
13	CEBPB	chr19:41367289-41367476	A549	lung:	n/a	n/a
14	CEBPB	chr19:41368480-41368982	A549	lung:	n/a	n/a
15	CEBPB	chr19:41370305-41370801	K562	blood:	n/a	chr19:41370433-41370441
16	CEBPB	chr19:41378202-41378474	K562	blood:	n/a	n/a
17	CEBPB	chr19:41368761-41369068	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr19:41374056-41374100	A549	lung:	n/a	n/a
19	CEBPB	chr19:41373834-41374300	A549	lung:	n/a	n/a
20	CEBPB	chr19:41370209-41371189	K562	blood:	n/a	chr19:41370433-41370441
21	CEBPB	chr19:41378139-41378466	K562	blood:	n/a	n/a
22	CEBPB	chr19:41373920-41374208	K562	blood:	n/a	n/a
23	CEBPB	chr19:41362024-41362201	K562	blood:	n/a	n/a
24	CEBPB	chr19:41370543-41370910	K562	blood:	n/a	n/a
25	CEBPD	chr19:41370661-41370862	K562	blood:	n/a	n/a
26	CEBPD	chr19:41392214-41392550	K562	blood:	n/a	n/a
27	CEBPD	chr19:41370295-41371143	K562	blood:	n/a	n/a
28	CTCF	chr19:41368360-41368510	GM12865	blood:	n/a	n/a
29	CTCF	chr19:41364176-41364245	MCF-7	breast:	n/a	n/a
30	CTCF	chr19:41364190-41364227	MCF-7	breast:	n/a	n/a
31	CTCF	chr19:41388830-41388853	LNCaP	prostate:	n/a	n/a
32	CTCF	chr19:41368340-41368490	AoAF	blood vessel:	n/a	n/a
33	CTCF	chr19:41364147-41364298	K562	blood:	n/a	n/a
34	CTCF	chr19:41368260-41368410	HVMF	connective:	n/a	n/a
35	CTCF	chr19:41368140-41368290	NHDF-neo	bronchial:	n/a	n/a
36	CTCF	chr19:41368380-41368530	HEK293	kidney:	n/a	n/a
37	CTCF	chr19:41368360-41368510	AG10803	skin:	n/a	n/a
38	CTCF	chr19:41368260-41368410	HFF	foreskin:	n/a	n/a
39	CTCF	chr19:41368340-41368490	HPAF	blood vessel:	n/a	n/a
40	CTCF	chr19:41381740-41381820	GM13976	blood:	n/a	n/a
41	CTCF	chr19:41386320-41386470	HEK293	kidney:	n/a	n/a
42	CTCF	chr19:41368380-41368530	NHEK	skin:	n/a	n/a
43	CTCF	chr19:41364120-41364270	K562	blood:	n/a	n/a
44	CTCF	chr19:41368540-41368690	AoAF	blood vessel:	n/a	n/a
45	CTCF	chr19:41368360-41368510	HMF	breast:	n/a	n/a
46	CTCF	chr19:41368340-41368490	NHDF-neo	bronchial:	n/a	n/a
47	CTCF	chr19:41368380-41368530	A549	lung:	n/a	n/a
48	CTCF	chr19:41386312-41386552	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr19:41381744-41381801	Spleen_OC	spleen:	n/a	n/a
50	CTCF	chr19:41364120-41364270	Caco-2	colon:	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	chr19:41386441-41386491	K562	blood:	n/a
2	chr19:41386441-41386491	PrEC	prostate:	n/a
3	chr19:41389684-41389734	AG09309	skin:	n/a
4	chr19:41388232-41388282	SK-N-MC	brain:	n/a
5	chr19:41386507-41386557	T-47D	breast:	n/a
6	chr19:41388232-41388282	GM12891	blood:	n/a
7	chr19:41383654-41383704	HAEpiC	amniotic membrane:	n/a
8	chr19:41388232-41388282	AG10803	skin:	n/a
9	chr19:41389684-41389734	MCF-7	breast:	n/a
10	chr19:41386507-41386557	HRE	kidney:	n/a
11	chr19:41386441-41386491	Caco-2	colon:	n/a
12	chr19:41383654-41383704	HCF	heart:	n/a
13	chr19:41385865-41385915	HPAEpiC	pulmonary alveolar:	n/a
14	chr19:41386441-41386491	BE2_C	brain:	n/a
15	chr19:41389684-41389734	Jurkat	blood:	n/a
16	chr19:41388232-41388282	A549	lung:	n/a
17	chr19:41388232-41388282	SKMC	muscle:	n/a
18	chr19:41388232-41388282	HIPEpiC	eye:	n/a
19	chr19:41385865-41385915	Hepatocyte	liver:	n/a
20	chr19:41388384-41388434	NH-A	brain:	n/a
21	chr19:41388232-41388282	GM12892	blood:	n/a
22	chr19:41389684-41389734	SK-N-SH	brain:	n/a
23	chr19:41385865-41385915	CMK	blood:	n/a
24	chr19:41389684-41389734	HCF	heart:	n/a
25	chr19:41386441-41386491	HRE	kidney:	n/a
26	chr19:41388232-41388282	GM19239	blood:	n/a
27	chr19:41386441-41386491	HUVEC	blood vessel:	n/a
28	chr19:41383654-41383704	A549	lung:	n/a
29	chr19:41388384-41388434	AG10803	skin:	n/a
30	chr19:41386507-41386557	GM12891	blood:	n/a
31	chr19:41385865-41385915	ProgFib	skin:	n/a
32	chr19:41385865-41385915	LNCaP	prostate:	n/a
33	chr19:41386441-41386491	HEK293	kidney:	embryo
34	chr19:41386441-41386491	BJ	skin:	n/a
35	chr19:41389684-41389734	A549	lung:	n/a
36	chr19:41386507-41386557	MCF-7	breast:	n/a
37	chr19:41386507-41386557	HCPEpiC	choroid plexus:	n/a
38	chr19:41383654-41383704	PANC-1	pancreas:	n/a
39	chr19:41389684-41389734	HNPCEpiC	eye:	n/a
40	chr19:41389684-41389734	Caco-2	colon:	n/a
41	chr19:41388232-41388282	HCPEpiC	choroid plexus:	n/a
42	chr19:41385865-41385915	PANC-1	pancreas:	n/a
43	chr19:41388232-41388282	Caco-2	colon:	n/a
44	chr19:41388384-41388434	HCM	heart:	n/a
45	chr19:41385865-41385915	HUVEC	blood vessel:	n/a
46	chr19:41385865-41385915	HepG2	liver:	n/a
47	chr19:41386441-41386491	SKMC	muscle:	n/a
48	chr19:41389684-41389734	U87	brain:	n/a
49	chr19:41386441-41386491	T-47D	breast:	n/a
50	chr19:41383654-41383704	Hepatocyte	liver:	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
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: 1641 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1641 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577178276	chr19:41361097-41361098	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs537774684	chr19:41361159-41361160	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs558658248	chr19:41361164-41361165	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs113858546	chr19:41361200-41361201	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs184323074	chr19:41361210-41361211	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs534772109	chr19:41361215-41361216	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs113898468	chr19:41361234-41361235	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs140317732	chr19:41361274-41361275	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs537159970	chr19:41361305-41361306	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs145465996	chr19:41361350-41361351	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs562868022	chr19:41361358-41361359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190761659	chr19:41361383-41361384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556774267	chr19:41361431-41361432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575175872	chr19:41361450-41361451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545717204	chr19:41361470-41361471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11665953	chr19:41361490-41361491	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs199823424	chr19:41361570-41361571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528098650	chr19:41361571-41361572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539901299	chr19:41361572-41361573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs397958425	chr19:41361582-41361583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181842714	chr19:41361657-41361658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369250773	chr19:41361666-41361667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551007564	chr19:41361670-41361671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548784652	chr19:41361730-41361731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372005038	chr19:41361732-41361733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375208833	chr19:41361737-41361738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570289594	chr19:41361771-41361772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186171903	chr19:41361807-41361808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111645190	chr19:41361808-41361809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35046575	chr19:41361813-41361814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140955303	chr19:41361823-41361824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528263657	chr19:41361845-41361846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553137945	chr19:41361848-41361849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546585443	chr19:41361860-41361861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568203582	chr19:41361875-41361876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs71358941	chr19:41361876-41361877	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs190494801	chr19:41361943-41361944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575115225	chr19:41362045-41362046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376852537	chr19:41362055-41362056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143016076	chr19:41362063-41362064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79914393	chr19:41362089-41362090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573102497	chr19:41362090-41362091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540216196	chr19:41362093-41362094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148203205	chr19:41362114-41362115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141158878	chr19:41362155-41362156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10422346	chr19:41362173-41362174	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs563836956	chr19:41362209-41362210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113288603	chr19:41362293-41362294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150685723	chr19:41362314-41362315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571119571	chr19:41362319-41362320	Enhancers	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:165 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41356400-41362000	Enhancers	Liver	Liver
2	chr19:41360800-41361200	Enhancers	Stomach Mucosa	stomach
3	chr19:41361000-41361600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr19:41361000-41361600	Enhancers	A549	lung
5	chr19:41361200-41361400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr19:41361400-41361800	Weak transcription	HSMMtube	muscle
7	chr19:41361400-41362400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr19:41361800-41362000	Enhancers	HSMMtube	muscle
9	chr19:41361800-41363000	Enhancers	Adipose Nuclei	Adipose
10	chr19:41362400-41368400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr19:41362800-41366000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr19:41363000-41368400	Weak transcription	Adipose Nuclei	Adipose
13	chr19:41363600-41370800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr19:41365000-41365200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr19:41365200-41368200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr19:41367000-41373800	Enhancers	K562	blood
17	chr19:41367400-41370000	Enhancers	Ovary	ovary
18	chr19:41368000-41368800	Enhancers	A549	lung
19	chr19:41368200-41368400	Weak transcription	Fetal Intestine Large	intestine
20	chr19:41368200-41368800	Enhancers	HSMM	muscle
21	chr19:41368200-41368800	Enhancers	HSMMtube	muscle
22	chr19:41368200-41369000	Enhancers	Liver	Liver
23	chr19:41368200-41369200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr19:41368200-41371000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr19:41368400-41368600	Enhancers	Fetal Intestine Large	intestine
26	chr19:41368400-41368800	Enhancers	Adipose Nuclei	Adipose
27	chr19:41368400-41369000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr19:41368400-41369000	Enhancers	Hela-S3	cervix
29	chr19:41368400-41371000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr19:41368600-41369000	Enhancers	Fetal Intestine Small	intestine
31	chr19:41368600-41370800	Weak transcription	Fetal Intestine Large	intestine
32	chr19:41368800-41370600	Weak transcription	A549	lung
33	chr19:41368800-41370800	Weak transcription	Adipose Nuclei	Adipose
34	chr19:41369000-41370800	Weak transcription	Fetal Intestine Small	intestine
35	chr19:41369800-41370000	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr19:41370000-41370800	Weak transcription	Ovary	ovary
37	chr19:41370200-41371600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr19:41370600-41371000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr19:41370600-41371200	Enhancers	A549	lung
40	chr19:41370800-41371000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr19:41370800-41371000	Enhancers	Adipose Nuclei	Adipose
42	chr19:41370800-41371200	Enhancers	Ovary	ovary
43	chr19:41370800-41371400	Enhancers	Fetal Intestine Small	intestine
44	chr19:41370800-41371600	Enhancers	Fetal Intestine Large	intestine
45	chr19:41371200-41371600	Weak transcription	A549	lung
46	chr19:41371600-41372400	Enhancers	A549	lung
47	chr19:41372400-41372800	Flanking Active TSS	A549	lung
48	chr19:41372800-41374000	Weak transcription	A549	lung
49	chr19:41373800-41378200	Weak transcription	K562	blood
50	chr19:41374000-41375000	Enhancers	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links