Variant report

Variant	esv17598
Chromosome Location	chr19:41982121-42007150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:129)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:26)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:129 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:41985894-41986022	K562	blood:	n/a	n/a
2	ATF1	chr19:41985515-41985820	K562	blood:	n/a	n/a
3	ATF3	chr19:42007044-42007229	K562	blood:	n/a	n/a
4	BACH1	chr19:41985825-41985834	K562	blood:	n/a	n/a
5	BHLHE40	chr19:41986254-41986585	K562	blood:	n/a	n/a
6	BHLHE40	chr19:41985631-41985823	K562	blood:	n/a	n/a
7	CBX3	chr19:41985547-41986099	K562	blood:	n/a	n/a
8	CEBPB	chr19:41992260-41992553	A549	lung:	n/a	n/a
9	CEBPB	chr19:41992986-41993092	IMR90	lung:	n/a	chr19:41993068-41993079
10	CEBPB	chr19:41992465-41992478	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr19:41992290-41992562	HepG2	liver:	n/a	n/a
12	CEBPB	chr19:41992919-41993068	HepG2	liver:	n/a	n/a
13	CEBPB	chr19:41992890-41993261	HepG2	liver:	n/a	chr19:41993068-41993079
14	CEBPB	chr19:41992947-41993198	A549	lung:	n/a	chr19:41993068-41993079
15	CTCF	chr19:41982900-41983050	GM12869	blood:	n/a	n/a
16	CTCF	chr19:41984280-41984430	HEK293	kidney:	n/a	n/a
17	CTCF	chr19:41984380-41984530	GM06990	blood:	n/a	n/a
18	CTCF	chr19:41982813-41982850	ProgFib	skin:	n/a	n/a
19	CTCF	chr19:41984200-41984350	A549	lung:	n/a	chr19:41984245-41984254 chr19:41984245-41984258
20	CTCF	chr19:41990980-41991130	A549	lung:	n/a	n/a
21	CTCF	chr19:41992387-41992397	Kidney_OC	kidney:	n/a	n/a
22	CTCF	chr19:41984420-41984570	A549	lung:	n/a	n/a
23	E2F6	chr19:41985892-41986040	K562	blood:	n/a	n/a
24	E2F6	chr19:42006864-42008112	A549	lung:	n/a	n/a
25	E2F6	chr19:41986291-41986500	K562	blood:	n/a	n/a
26	E2F6	chr19:42007078-42007279	K562	blood:	n/a	n/a
27	E2F6	chr19:41986216-41986489	K562	blood:	n/a	n/a
28	E2F6	chr19:42006624-42008253	A549	lung:	n/a	n/a
29	EP300	chr19:41985848-41986019	K562	blood:	n/a	n/a
30	FOS	chr19:41984858-41986274	HUVEC	blood vessel:	n/a	chr19:41985971-41985982 chr19:41985559-41985568
31	FOS	chr19:41985833-41986024	MCF10A-Er-Src	breast:	n/a	chr19:41985971-41985982
32	FOS	chr19:41985864-41986064	MCF10A-Er-Src	breast:	n/a	chr19:41985971-41985982
33	FOS	chr19:41985870-41986108	MCF10A-Er-Src	breast:	n/a	chr19:41985971-41985982
34	FOS	chr19:41985798-41986124	MCF10A-Er-Src	breast:	n/a	chr19:41985971-41985982
35	FOSL2	chr19:42006817-42008108	A549	lung:	n/a	n/a
36	FOXA1	chr19:41992958-41993164	HepG2	liver:	n/a	n/a
37	FOXA1	chr19:41992948-41993177	HepG2	liver:	n/a	n/a
38	FOXA2	chr19:42007059-42007730	A549	lung:	n/a	n/a
39	FOXA2	chr19:41992925-41993149	HepG2	liver:	n/a	n/a
40	GATA2	chr19:41984810-41986322	HUVEC	blood vessel:	n/a	chr19:41985224-41985238 chr19:41985225-41985234 chr19:41985222-41985238
41	HA-E2F1	chr19:42006937-42007975	MCF-7	breast:	n/a	n/a
42	HCFC1	chr19:41985853-41986038	K562	blood:	n/a	n/a
43	HEY1	chr19:41985909-41986152	K562	blood:	n/a	n/a
44	JUN	chr19:41985371-41986377	K562	blood:	n/a	chr19:41985559-41985568
45	JUN	chr19:41985022-41986193	HUVEC	blood vessel:	n/a	chr19:41985559-41985568
46	JUND	chr19:41985816-41986158	K562	blood:	n/a	n/a
47	KAP1	chr19:42006747-42007732	U2OS	brain:	n/a	n/a
48	MAFK	chr19:41993012-41993058	HepG2	liver:	n/a	n/a
49	MAFK	chr19:41985846-41986110	K562	blood:	n/a	n/a
50	MAX	chr19:42006895-42007802	HCT-116	colon:	n/a	chr19:42007171-42007180 chr19:42007171-42007180 chr19:42007171-42007180

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:41945911..41947481-chr19:41988789..41990689,2	K562	blood:
2	chr19:41944061..41946977-chr19:42000429..42002001,2	K562	blood:
3	chr19:41944280..41946189-chr19:42004239..42006678,2	K562	blood:

(count:26 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP5SL-1	chr19:42006494-42006554	NONHSAT066453
2	lnc-ATP5SL-1	chr19:41984989-41985192	ENSG00000249527
3	lnc-ATP5SL-1	chr19:41984451-41985192	NONHSAT066457
4	lnc-ATP5SL-1	chr19:42001210-42001335	NONHSAT066451
5	lnc-ATP5SL-1	chr19:41984989-41985049	ENSG00000267107.2
6	lnc-ATP5SL-1	chr19:42001210-42001338	NONHSAT066459
7	lnc-ATP5SL-1	chr19:42000448-42001335	ENSG00000249527
8	lnc-ATP5SL-1	chr19:42006494-42006554	ENSG00000249527
9	lnc-ATP5SL-1	chr19:42006494-42006539	ENSG00000267107.2
10	lnc-ATP5SL-1	chr19:42006494-42006538	NONHSAT066457
11	lnc-ATP5SL-1	chr19:41984989-41985049	ENSG00000267107.2
12	lnc-ATP5SL-1	chr19:41984989-41985192	ENSG00000249527
13	lnc-ATP5SL-1	chr19:42000448-42001335	ENSG00000267107.2
14	lnc-ATP5SL-1	chr19:41985040-41985192	NONHSAT066459
15	lnc-ATP5SL-1	chr19:41984451-41985192	NONHSAT066458
16	lnc-ATP5SL-1	chr19:41984989-41985192	ENSG00000267107.2
17	lnc-ATP5SL-1	chr19:42006494-42006554	ENSG00000249527
18	lnc-ATP5SL-1	chr19:41984989-41985192	NONHSAT066451
19	lnc-ATP5SL-1	chr19:42001210-42001335	ENSG00000267107.2
20	lnc-ATP5SL-1	chr19:42006494-42006540	NONHSAT066451
21	lnc-ATP5SL-1	chr19:42001210-42001335	NONHSAT066458
22	lnc-ATP5SL-1	chr19:41984989-41985192	NONHSAT066453
23	lnc-ATP5SL-1	chr19:42006494-42006545	NONHSAT066458
24	lnc-ATP5SL-1	chr19:42006494-42006559	ENSG00000249527
25	lnc-ATP5SL-1	chr19:42006494-42006554	ENSG00000267107.2
26	lnc-ATP5SL-1	chr19:41984989-41985051	ENSG00000267107.2

No data

Variant related genes	Relation type
ENSG00000267107	TF binding region
ENSG00000268034	TF binding region
ENSG00000105341	chromatin interactions
TMED7	miRNA target sites
CHST11	miRNA target sites
PRSS21	miRNA target sites
EZH2	miRNA target sites
SPTBN1	miRNA target sites
CNN3	miRNA target sites

Extended variants
information (count: 1007 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1007 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114003628	chr19:41982122-41982123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs587725354	chr19:41982159-41982160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186936684	chr19:41982168-41982169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190975431	chr19:41982212-41982213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs587711854	chr19:41982217-41982218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140848720	chr19:41982246-41982247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs587673719	chr19:41982288-41982289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144297517	chr19:41982289-41982290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs587630418	chr19:41982293-41982294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs587665243	chr19:41982358-41982359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs587745172	chr19:41982359-41982360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs587613293	chr19:41982360-41982361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374161176	chr19:41982444-41982445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs587700381	chr19:41982453-41982454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs587752731	chr19:41982457-41982458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182821780	chr19:41982463-41982464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs587713160	chr19:41982591-41982592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368641451	chr19:41982613-41982614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188817209	chr19:41982650-41982651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs193208690	chr19:41982659-41982660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147785163	chr19:41982909-41982910	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs587761583	chr19:41982965-41982966	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs77571410	chr19:41983000-41983001	Enhancers Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs587718830	chr19:41983004-41983005	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79018069	chr19:41983033-41983034	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11342448	chr19:41983035-41983036	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs56027032	chr19:41983058-41983059	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375628688	chr19:41983103-41983104	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs587597630	chr19:41983104-41983105	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141237576	chr19:41983105-41983106	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7248484	chr19:41983107-41983108	Enhancers Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs184619847	chr19:41983187-41983188	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187403747	chr19:41983200-41983201	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192070162	chr19:41983201-41983202	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372405981	chr19:41983231-41983232	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs587672095	chr19:41983250-41983251	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs587737137	chr19:41983269-41983270	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377020204	chr19:41983281-41983282	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146921836	chr19:41983293-41983294	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374438726	chr19:41983373-41983374	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200145693	chr19:41983380-41983381	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs587713380	chr19:41983390-41983391	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184337093	chr19:41983415-41983416	Enhancers Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs587645950	chr19:41983448-41983449	Enhancers Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs189803941	chr19:41983499-41983500	Enhancers Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs587758786	chr19:41983573-41983574	Enhancers Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs137928918	chr19:41983616-41983617	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs180890642	chr19:41983624-41983625	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs113077432	chr19:41983644-41983645	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs149000657	chr19:41983657-41983658	Enhancers Active TSS Weak transcription Flanking Active TSS	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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:178 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41968400-41982200	Weak transcription	HUVEC	blood vessel
2	chr19:41979600-41982200	Weak transcription	Spleen	Spleen
3	chr19:41982200-41982400	Enhancers	Spleen	Spleen
4	chr19:41982200-41982800	Enhancers	GM12878-XiMat	blood
5	chr19:41982200-41983200	Enhancers	Primary B cells from peripheral blood	blood
6	chr19:41982200-41983400	Enhancers	HUVEC	blood vessel
7	chr19:41982400-41982800	Weak transcription	Spleen	Spleen
8	chr19:41982400-41983800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr19:41982800-41983000	Enhancers	Left Ventricle	heart
10	chr19:41982800-41983000	Enhancers	Right Atrium	heart
11	chr19:41982800-41983000	Enhancers	Spleen	Spleen
12	chr19:41982800-41983000	Flanking Active TSS	GM12878-XiMat	blood
13	chr19:41982800-41983600	Enhancers	Lung	lung
14	chr19:41983000-41983600	Genic enhancers	Left Ventricle	heart
15	chr19:41983000-41984000	Weak transcription	Right Atrium	heart
16	chr19:41983000-41986400	Weak transcription	Spleen	Spleen
17	chr19:41983400-41984000	Enhancers	Fetal Muscle Leg	muscle
18	chr19:41983400-41986400	Flanking Active TSS	HUVEC	blood vessel
19	chr19:41983600-41984200	Enhancers	Left Ventricle	heart
20	chr19:41983600-41985200	Active TSS	Lung	lung
21	chr19:41983800-41984600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
22	chr19:41983800-41985000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr19:41984000-41984200	Bivalent Enhancer	Adipose Nuclei	Adipose
24	chr19:41984000-41984200	Weak transcription	Fetal Muscle Leg	muscle
25	chr19:41984000-41984200	Enhancers	Right Atrium	heart
26	chr19:41984200-41984400	Bivalent/Poised TSS	Fetal Stomach	stomach
27	chr19:41984200-41984400	Flanking Active TSS	Left Ventricle	heart
28	chr19:41984200-41984800	Bivalent/Poised TSS	Right Ventricle	heart
29	chr19:41984200-41985000	Active TSS	Fetal Muscle Leg	muscle
30	chr19:41984200-41985600	Active TSS	Right Atrium	heart
31	chr19:41984200-41986400	Active TSS	Ovary	ovary
32	chr19:41984400-41984600	Active TSS	Adipose Nuclei	Adipose
33	chr19:41984400-41984800	Active TSS	Left Ventricle	heart
34	chr19:41984400-41985000	Active TSS	Fetal Stomach	stomach
35	chr19:41984400-41985000	Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr19:41984600-41985000	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr19:41984600-41985200	Active TSS	Fetal Muscle Trunk	muscle
38	chr19:41984800-41985000	Flanking Active TSS	Left Ventricle	heart
39	chr19:41984800-41985000	Flanking Active TSS	Right Ventricle	heart
40	chr19:41985000-41985400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr19:41985000-41986200	Weak transcription	Left Ventricle	heart
42	chr19:41985000-41986600	Enhancers	Adipose Nuclei	Adipose
43	chr19:41985000-41986600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr19:41985200-41985600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr19:41985200-41986800	Weak transcription	Lung	lung
46	chr19:41985400-41986000	Enhancers	Fetal Heart	heart
47	chr19:41985400-41986200	Flanking Active TSS	K562	blood
48	chr19:41985400-41986400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr19:41985600-41986600	Weak transcription	Right Atrium	heart
50	chr19:41986200-41986400	Active TSS	Left Ventricle	heart

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