Variant report

Variant	nsv911771
Chromosome Location	chr19:41962486-42085873
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2425)
CpG islands
(count:796)
Chromatin interactive
region (count:48)
LncRNA
region (count:58)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2425 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:42069756-42070106	HepG2	liver:	n/a	n/a
2	ARID3A	chr19:42048361-42048501	HepG2	liver:	n/a	n/a
3	ARID3A	chr19:41969568-41969577	HepG2	liver:	n/a	n/a
4	ARID3A	chr19:41985894-41986022	K562	blood:	n/a	n/a
5	ARID3A	chr19:42044288-42044433	K562	blood:	n/a	n/a
6	ATF1	chr19:42032569-42032575	K562	blood:	n/a	n/a
7	ATF1	chr19:42046751-42046881	K562	blood:	n/a	n/a
8	ATF1	chr19:41985515-41985820	K562	blood:	n/a	n/a
9	ATF1	chr19:42034637-42034760	K562	blood:	n/a	n/a
10	ATF1	chr19:42037809-42038256	K562	blood:	n/a	n/a
11	ATF2	chr19:42057741-42058452	GM12878	blood:	n/a	n/a
12	ATF2	chr19:42041209-42041983	GM12878	blood:	n/a	n/a
13	ATF2	chr19:42058880-42059462	GM12878	blood:	n/a	n/a
14	ATF2	chr19:42041202-42042096	GM12878	blood:	n/a	n/a
15	ATF2	chr19:42037562-42038519	GM12878	blood:	n/a	n/a
16	ATF2	chr19:42055362-42056183	GM12878	blood:	n/a	n/a
17	ATF3	chr19:42007044-42007229	K562	blood:	n/a	n/a
18	BACH1	chr19:42016903-42017186	K562	blood:	n/a	n/a
19	BACH1	chr19:42048408-42048594	K562	blood:	n/a	n/a
20	BACH1	chr19:42070923-42071061	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr19:42069740-42070116	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr19:41985825-41985834	K562	blood:	n/a	n/a
23	BACH1	chr19:42048903-42048999	K562	blood:	n/a	n/a
24	BATF	chr19:42007315-42007464	GM12878	blood:	n/a	n/a
25	BATF	chr19:42027742-42028251	GM12878	blood:	n/a	n/a
26	BATF	chr19:41969389-41969829	GM12878	blood:	n/a	n/a
27	BATF	chr19:41969506-41969785	GM12878	blood:	n/a	n/a
28	BATF	chr19:42027836-42028322	GM12878	blood:	n/a	n/a
29	BATF	chr19:42037778-42038228	GM12878	blood:	n/a	n/a
30	BATF	chr19:42041513-42041943	GM12878	blood:	n/a	n/a
31	BATF	chr19:42055692-42056029	GM12878	blood:	n/a	n/a
32	BATF	chr19:42022723-42023153	GM12878	blood:	n/a	n/a
33	BCL11A	chr19:41969539-41969773	GM12878	blood:	n/a	n/a
34	BCL11A	chr19:42041523-42041834	GM12878	blood:	n/a	n/a
35	BCL11A	chr19:41969464-41969856	GM12878	blood:	n/a	n/a
36	BCL11A	chr19:42041151-42041932	GM12878	blood:	n/a	n/a
37	BCL11A	chr19:42022922-42023098	GM12878	blood:	n/a	n/a
38	BCL3	chr19:42016667-42016907	GM12878	blood:	n/a	n/a
39	BCL3	chr19:42016218-42016628	GM12878	blood:	n/a	n/a
40	BCL3	chr19:42069451-42070328	A549	lung:	n/a	n/a
41	BCL3	chr19:42016314-42016648	GM12878	blood:	n/a	n/a
42	BCL3	chr19:42041346-42042017	GM12878	blood:	n/a	n/a
43	BCLAF1	chr19:42041201-42042022	GM12878	blood:	n/a	n/a
44	BCLAF1	chr19:42058839-42059499	GM12878	blood:	n/a	n/a
45	BCLAF1	chr19:42055316-42056221	GM12878	blood:	n/a	n/a
46	BCLAF1	chr19:42027598-42028326	GM12878	blood:	n/a	n/a
47	BCLAF1	chr19:42076940-42077340	GM12878	blood:	n/a	n/a
48	BCLAF1	chr19:42037618-42038574	GM12878	blood:	n/a	n/a
49	BHLHE40	chr19:42022983-42023012	GM12878	blood:	n/a	n/a
50	BHLHE40	chr19:42069778-42070086	GM12878	blood:	n/a	n/a

(count:796 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:42007378-42007428	A549	lung:	n/a
2	chr19:42082350-42082400	Hela-S3	cervix:	n/a
3	chr19:42082485-42082535	SK-N-SH_RA	brain:	n/a
4	chr19:42007378-42007428	A549	lung:	n/a
5	chr19:42082350-42082400	Hela-S3	cervix:	n/a
6	chr19:42082485-42082535	SK-N-SH_RA	brain:	n/a
7	chr19:42082570-42082620	HCF	heart:	n/a
8	chr19:42083748-42083798	PrEC	prostate:	n/a
9	chr19:42082570-42082620	PrEC	prostate:	n/a
10	chr19:42007378-42007428	HCM	heart:	n/a
11	chr19:42082350-42082400	PrEC	prostate:	n/a
12	chr19:42071114-42071164	SAEC	small airway:	n/a
13	chr19:42082350-42082400	BE2_C	brain:	n/a
14	chr19:42082102-42082152	HRCEpiC	kidney:	n/a
15	chr19:42082485-42082535	ovcar-3	ovarian:	n/a
16	chr19:42007378-42007428	K562	blood:	n/a
17	chr19:42082485-42082535	IMR90	lung:	fetal
18	chr19:42082350-42082400	NB4	blood:	n/a
19	chr19:42031482-42031532	Hela-S3	cervix:	n/a
20	chr19:42082570-42082620	ovcar-3	ovarian:	n/a
21	chr19:42082350-42082400	H1-hESC	embryonic stem cell:	embryo
22	chr19:42071114-42071164	A549	lung:	n/a
23	chr19:42082267-42082317	HRE	kidney:	n/a
24	chr19:42082102-42082152	NH-A	brain:	n/a
25	chr19:42082102-42082152	GM19239	blood:	n/a
26	chr19:42028551-42028601	T-47D	breast:	n/a
27	chr19:42027798-42027848	Hepatocyte	liver:	n/a
28	chr19:42082570-42082620	Hela-S3	cervix:	n/a
29	chr19:42071114-42071164	PANC-1	pancreas:	n/a
30	chr19:42007378-42007428	ovcar-3	ovarian:	n/a
31	chr19:42083748-42083798	MCF10A-Er-Src	breast:	n/a
32	chr19:42081255-42081305	CMK	blood:	n/a
33	chr19:42027798-42027848	AG10803	skin:	n/a
34	chr19:42027798-42027848	HNPCEpiC	eye:	n/a
35	chr19:42028551-42028601	HEEpiC	esophagus:	n/a
36	chr19:42082102-42082152	PANC-1	pancreas:	n/a
37	chr19:42081255-42081305	Jurkat	blood:	n/a
38	chr19:42071114-42071164	ECC-1	luminal epithelium:	n/a
39	chr19:42071114-42071164	IMR90	lung:	fetal
40	chr19:42082350-42082400	SK-N-SH_RA	brain:	n/a
41	chr19:42083748-42083798	HEEpiC	esophagus:	n/a
42	chr19:42082570-42082620	GM12878	blood:	n/a
43	chr19:42081255-42081305	HRE	kidney:	n/a
44	chr19:42082350-42082400	HMEC	breast:	n/a
45	chr19:42026012-42026062	IMR90	lung:	fetal
46	chr19:42007378-42007428	BJ	skin:	n/a
47	chr19:42007378-42007428	GM12892	blood:	n/a
48	chr19:42028551-42028601	IMR90	lung:	fetal
49	chr19:42026012-42026062	HEEpiC	esophagus:	n/a
50	chr19:42082570-42082620	BE2_C	brain:	n/a

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41959542..41961581-chr19:42071875..42074732,2	K562	blood:
2	chr19:41945498..41946299-chr19:42076700..42077272,2	MCF-7	breast:
3	chr19:41955365..41955940-chr19:42043884..42044391,2	K562	blood:
4	chr19:41955214..41955908-chr19:42043733..42044434,2	MCF-7	breast:
5	chr19:41877183..41879193-chr19:42077275..42079730,2	MCF-7	breast:
6	chr19:42031680..42033853-chr19:42037171..42039044,2	K562	blood:
7	chr19:42044232..42044742-chr19:42076655..42077555,2	MCF-7	breast:
8	chr19:41953484..41955550-chr19:42076712..42078351,2	MCF-7	breast:
9	chr19:42048044..42048836-chr19:42069540..42070426,2	K562	blood:
10	chr19:42065450..42067193-chr19:42070166..42071920,2	K562	blood:
11	chr19:41954921..41955448-chr19:42069995..42070621,2	MCF-7	breast:
12	chr19:41847464..41848006-chr19:42069412..42069986,2	MCF-7	breast:
13	chr19:41920096..41922257-chr19:42065475..42067160,2	MCF-7	breast:
14	chr19:42055153..42057086-chr19:42062207..42063970,2	K562	blood:
15	chr19:41970790..41973417-chr19:42039173..42040939,2	K562	blood:
16	chr19:41943990..41946987-chr19:42072423..42074173,2	K562	blood:
17	chr19:41954991..41955547-chr19:42076737..42077301,2	MCF-7	breast:
18	chr19:42077943..42079577-chr19:42084170..42086427,2	K562	blood:
19	chr19:41955026..41955865-chr19:42069595..42070117,2	K562	blood:
20	chr19:42044232..42044742-chr19:42076655..42077555,2	MCF-7	breast:
21	chr19:41955066..41955972-chr19:42043125..42044734,10	MCF-7	breast:
22	chr19:42071841..42072361-chr2:230045042..230045586,2	MCF-7	breast:
23	chr19:42069422..42070951-chr19:42073170..42075974,2	MCF-7	breast:
24	chr19:42036448..42038567-chr19:42052200..42053873,2	MCF-7	breast:
25	chr19:41954980..41955905-chr19:42076786..42077640,5	K562	blood:
26	chr19:42048109..42049006-chr19:42076514..42077838,6	MCF-7	breast:
27	chr19:41979781..41981328-chr19:41984407..41987088,2	K562	blood:
28	chr19:41944280..41946189-chr19:42004239..42006678,2	K562	blood:
29	chr19:41944061..41946977-chr19:42000429..42002001,2	K562	blood:
30	chr19:42048016..42049035-chr19:42076640..42077541,6	MCF-7	breast:
31	chr19:41941738..41942622-chr19:42076685..42077563,3	MCF-7	breast:
32	chr19:41954976..41956003-chr19:42076182..42077940,10	MCF-7	breast:
33	chr19:41955014..41955888-chr19:42048054..42049030,2	K562	blood:
34	chr19:42031680..42033653-chr19:42037544..42040304,2	K562	blood:
35	chr19:42048016..42049035-chr19:42076640..42077541,6	MCF-7	breast:
36	chr19:42077943..42079577-chr19:42084170..42086427,2	K562	blood:
37	chr19:41945911..41947481-chr19:41988789..41990689,2	K562	blood:
38	chr19:42048044..42048836-chr19:42069540..42070426,2	K562	blood:
39	chr19:42048109..42049006-chr19:42076514..42077838,6	MCF-7	breast:
40	chr19:42078682..42081058-chr19:42082951..42085705,2	MCF-7	breast:
41	chr19:42055107..42057086-chr19:42062207..42064223,3	K562	blood:
42	chr19:42032930..42034561-chr19:42036519..42039384,2	MCF-7	breast:
43	chr19:42078682..42081058-chr19:42082951..42085705,2	MCF-7	breast:
44	chr19:41824418..41826193-chr19:42074523..42077074,2	K562	blood:
45	chr19:41970790..41973417-chr19:42039173..42040939,2	K562	blood:
46	chr19:42069422..42070951-chr19:42073170..42075974,2	MCF-7	breast:
47	chr19:42035785..42038762-chr19:42042099..42044984,2	MCF-7	breast:
48	chr19:41954861..41955874-chr19:42069542..42070514,6	MCF-7	breast:

(count:58 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C19orf69-2	chr19:42057550-42057864	ENSG00000268027.1
2	lnc-ATP5SL-1	chr19:41984989-41985192	NONHSAT066453
3	lnc-C19orf69-2	chr19:42055888-42055920	ENSG00000268027.1
4	lnc-ATP5SL-1	chr19:42006494-42006554	ENSG00000267107.2
5	lnc-ATP5SL-1	chr19:42006494-42006545	NONHSAT066458
6	lnc-ATP5SL-1	chr19:41984989-41985049	ENSG00000267107.2
7	lnc-ATP5SL-1	chr19:41984989-41985051	ENSG00000267107.2
8	lnc-CEACAM21-2	chr19:42042960-42043264	ENSG00000270164.1
9	lnc-ATP5SL-1	chr19:41984451-41985192	NONHSAT066458
10	lnc-ATP5SL-1	chr19:41984989-41985192	ENSG00000249527
11	lnc-CEACAM21-2	chr19:42042090-42042145	ENSG00000270164.1
12	lnc-ATP5SL-1	chr19:41984989-41985192	ENSG00000249527
13	lnc-CEACAM21-3	chr19:42037647-42037935	ENSG00000268355.1
14	lnc-CEACAM21-1	chr19:42085623-42085981	NR_110107
15	lnc-CEACAM21-2	chr19:42041860-42041963	ENSG00000270164.1
16	lnc-ATP5SL-1	chr19:42006494-42006539	ENSG00000267107.2
17	lnc-CEACAM21-3	chr19:42037566-42037693	ENSG00000268355.1
18	lnc-ATP5SL-1	chr19:41984451-41985192	NONHSAT066457
19	lnc-ATP5SL-1	chr19:41980371-41980444	ENSG00000267107.2
20	lnc-ATP5SL-1	chr19:42001210-42001335	NONHSAT066458
21	lnc-ATP5SL-1	chr19:42006494-42006554	ENSG00000249527
22	lnc-CEACAM21-2	chr19:42041545-42043262	ENSG00000270164.1
23	lnc-ATP5SL-1	chr19:42006494-42006554	NONHSAT066453
24	lnc-C19orf69-2	chr19:42058123-42058198	ENSG00000268027.1
25	lnc-ATP5SL-1	chr19:41985040-41985192	NONHSAT066459
26	lnc-ATP5SL-1	chr19:41984989-41985192	NONHSAT066451
27	lnc-C19orf69-2	chr19:42061321-42061469	ENSG00000268027.1
28	lnc-C19orf69-2	chr19:42051554-42051558	ENSG00000268027.1
29	lnc-C19orf69-2	chr19:42061580-42061621	ENSG00000268027.1
30	lnc-ATP5SL-1	chr19:41984989-41985049	ENSG00000267107.2
31	lnc-CEACAM21-1	chr19:42083552-42083911	NR_110107
32	lnc-C19orf69-2	chr19:42060076-42060116	ENSG00000268027.1
33	lnc-ATP5SL-1	chr19:42000448-42001335	ENSG00000267107.2
34	lnc-ATP5SL-1	chr19:42001210-42001335	ENSG00000267107.2
35	lnc-ATP5SL-1	chr19:42006494-42006559	ENSG00000249527
36	lnc-CEACAM21-1	chr19:42082531-42082690	NR_110107
37	lnc-CEACAM21-2	chr19:42042963-42043266	ENSG00000270164.1
38	lnc-ATP5SL-1	chr19:42006494-42006540	NONHSAT066451
39	lnc-ATP5SL-1	chr19:42001210-42001335	NONHSAT066451
40	lnc-ATP5SL-1	chr19:42006494-42006538	NONHSAT066457
41	lnc-CEACAM21-3	chr19:42037786-42038237	ENSG00000268355.1
42	lnc-ATP5SL-1	chr19:41984989-41985192	ENSG00000267107.2
43	lnc-CEACAM21-2	chr19:42042960-42043266	ENSG00000270164.1
44	lnc-CEACAM21-2	chr19:42041929-42041963	ENSG00000270164.1
45	lnc-C19orf69-2	chr19:42061580-42061832	ENSG00000268027.1
46	lnc-ATP5SL-1	chr19:42001210-42001338	NONHSAT066459
47	lnc-C19orf69-2	chr19:42055888-42055920	ENSG00000268027.1
48	lnc-ATP5SL-1	chr19:41962496-41962828	ENSG00000267107.2
49	lnc-C19orf69-2	chr19:42061321-42061469	ENSG00000268027.1
50	lnc-ATP5SL-1	chr19:41962521-41962828	ENSG00000267107.2

No data

Variant related genes	Relation type
ENSG00000268355	TF binding region
ENSG00000267107	TF binding region
ENSG00000268034	TF binding region
PLEKHA3P1	TF binding region
ENSG00000270164	TF binding region
ENSG00000268027	TF binding region
CEACAM21	TF binding region
ENSG00000268355	CpG island
ENSG00000267107	CpG island
ENSG00000268034	CpG island
PLEKHA3P1	CpG island
ENSG00000270164	CpG island
ENSG00000268027	CpG island
CEACAM21	CpG island
ENSG00000248098	chromatin interactions
ENSG00000142039	chromatin interactions
ENSG00000007129	chromatin interactions
ENSG00000268355	chromatin interactions
ENSG00000105341	chromatin interactions
ENSG00000268027	chromatin interactions
ENSG00000105329	chromatin interactions
ENSG00000267107	chromatin interactions
PRSS21	miRNA target sites
CNN3	miRNA target sites
EZH2	miRNA target sites
TMED7	miRNA target sites
SPTBN1	miRNA target sites
CHST11	miRNA target sites

Extended variants
information (count: 4401 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:4401 , 50 per page) page: 1 2 3 4 5 6 7 ... 89

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78273227	chr19:41962522-41962523	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
2	rs187139142	chr19:41962677-41962678	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs587728806	chr19:41962678-41962679	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs587626320	chr19:41962685-41962686	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs115101134	chr19:41962753-41962754	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs587770089	chr19:41962828-41962829	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
7	rs587616580	chr19:41962858-41962859	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs113729366	chr19:41962859-41962860	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs587700695	chr19:41962863-41962864	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs375922366	chr19:41962905-41962906	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs142373580	chr19:41962909-41962910	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs146153881	chr19:41962971-41962972	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs587775171	chr19:41963015-41963016	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs60716583	chr19:41963038-41963039	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs587703533	chr19:41963054-41963055	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs34136957	chr19:41963162-41963163	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs79575907	chr19:41963178-41963179	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs77484903	chr19:41963182-41963183	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs528217494	chr19:41963183-41963184	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs376180352	chr19:41963184-41963185	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs8106702	chr19:41963191-41963192	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs11667701	chr19:41963221-41963222	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs191999792	chr19:41963337-41963338	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs587597103	chr19:41963491-41963492	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs149326612	chr19:41963534-41963535	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs587728557	chr19:41963563-41963564	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs10414933	chr19:41963613-41963614	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs4803471	chr19:41963749-41963750	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs369192599	chr19:41963766-41963767	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs587742427	chr19:41963904-41963905	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182879703	chr19:41963932-41963933	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs587695363	chr19:41963971-41963972	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376279525	chr19:41963978-41963979	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs587651784	chr19:41963985-41963986	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs386809364	chr19:41963986-41963987	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7256981	chr19:41963987-41963988	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs587645312	chr19:41964042-41964043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369033001	chr19:41964043-41964044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187166578	chr19:41964059-41964060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191490812	chr19:41964076-41964077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs587638259	chr19:41964207-41964208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs587711807	chr19:41964225-41964226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs587595365	chr19:41964289-41964290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs587648736	chr19:41964303-41964304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368853002	chr19:41964306-41964307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs587716265	chr19:41964355-41964356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144530019	chr19:41964375-41964376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs587661533	chr19:41964461-41964462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs587745674	chr19:41964501-41964502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148040227	chr19:41964513-41964514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Non-syndromic sensorineural hearing loss	21987784	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	18511947	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:2106 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41955600-41962600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr19:41955800-41963000	Weak transcription	Fetal Intestine Large	intestine
3	chr19:41960400-41962600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr19:41961200-41963800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr19:41961400-41962600	Enhancers	GM12878-XiMat	blood
6	chr19:41961400-41962800	Enhancers	Adipose Nuclei	Adipose
7	chr19:41961600-41962800	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr19:41961600-41962800	Enhancers	Left Ventricle	heart
9	chr19:41961600-41962800	Enhancers	Spleen	Spleen
10	chr19:41961800-41962600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr19:41961800-41962800	Enhancers	Fetal Lung	lung
12	chr19:41962000-41962600	Enhancers	Osteobl	bone
13	chr19:41962000-41962800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:41962000-41962800	Enhancers	Ovary	ovary
15	chr19:41962000-41962800	Enhancers	Right Atrium	heart
16	chr19:41962200-41962800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr19:41962200-41963000	Flanking Active TSS	HUVEC	blood vessel
18	chr19:41962200-41964200	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr19:41962400-41962800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr19:41962400-41963800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr19:41962400-41964000	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr19:41962400-41964200	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr19:41962400-41964200	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr19:41962600-41962800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr19:41962600-41962800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr19:41962600-41963000	Enhancers	Fetal Thymus	thymus
27	chr19:41962600-41963200	Enhancers	Primary T cells fromperipheralblood	blood
28	chr19:41962600-41963600	Flanking Active TSS	GM12878-XiMat	blood
29	chr19:41962600-41964000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr19:41962600-41964000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr19:41962600-41964200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr19:41962600-41964400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr19:41962800-41964200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr19:41963000-41963600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr19:41963000-41964200	Enhancers	HUVEC	blood vessel
36	chr19:41963200-41964000	Bivalent Enhancer	Primary T cells from cord blood	blood
37	chr19:41963400-41963600	Bivalent Enhancer	A549	lung
38	chr19:41963600-41964200	Enhancers	GM12878-XiMat	blood
39	chr19:41964200-41967400	Weak transcription	HUVEC	blood vessel
40	chr19:41967400-41968400	Enhancers	HUVEC	blood vessel
41	chr19:41968400-41970800	Enhancers	Primary B cells from peripheral blood	blood
42	chr19:41968400-41982200	Weak transcription	HUVEC	blood vessel
43	chr19:41968600-41969200	Enhancers	GM12878-XiMat	blood
44	chr19:41969000-41970600	Enhancers	Primary B cells from cord blood	blood
45	chr19:41969200-41969400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
46	chr19:41969200-41969400	Enhancers	Lung	lung
47	chr19:41969200-41969600	Flanking Active TSS	GM12878-XiMat	blood
48	chr19:41969200-41969600	Enhancers	HepG2	liver
49	chr19:41969200-41969800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr19:41969200-41970200	Enhancers	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links