Variant report

Variant	nsv911773
Chromosome Location	chr19:42001210-42085873
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2238)
CpG islands
(count:795)
Chromatin interactive
region (count:45)
LncRNA
region (count:44)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2238 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:42048361-42048501	HepG2	liver:	n/a	n/a
2	ARID3A	chr19:42069756-42070106	HepG2	liver:	n/a	n/a
3	ARID3A	chr19:42044288-42044433	K562	blood:	n/a	n/a
4	ATF1	chr19:42032569-42032575	K562	blood:	n/a	n/a
5	ATF1	chr19:42046751-42046881	K562	blood:	n/a	n/a
6	ATF1	chr19:42037809-42038256	K562	blood:	n/a	n/a
7	ATF1	chr19:42034637-42034760	K562	blood:	n/a	n/a
8	ATF2	chr19:42058880-42059462	GM12878	blood:	n/a	n/a
9	ATF2	chr19:42041202-42042096	GM12878	blood:	n/a	n/a
10	ATF2	chr19:42037562-42038519	GM12878	blood:	n/a	n/a
11	ATF2	chr19:42041209-42041983	GM12878	blood:	n/a	n/a
12	ATF2	chr19:42057741-42058452	GM12878	blood:	n/a	n/a
13	ATF2	chr19:42055362-42056183	GM12878	blood:	n/a	n/a
14	ATF3	chr19:42007044-42007229	K562	blood:	n/a	n/a
15	BACH1	chr19:42048903-42048999	K562	blood:	n/a	n/a
16	BACH1	chr19:42070923-42071061	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr19:42048408-42048594	K562	blood:	n/a	n/a
18	BACH1	chr19:42016903-42017186	K562	blood:	n/a	n/a
19	BACH1	chr19:42069740-42070116	H1-hESC	embryonic stem cell:	n/a	n/a
20	BATF	chr19:42027836-42028322	GM12878	blood:	n/a	n/a
21	BATF	chr19:42037778-42038228	GM12878	blood:	n/a	n/a
22	BATF	chr19:42027742-42028251	GM12878	blood:	n/a	n/a
23	BATF	chr19:42007315-42007464	GM12878	blood:	n/a	n/a
24	BATF	chr19:42041513-42041943	GM12878	blood:	n/a	n/a
25	BATF	chr19:42022723-42023153	GM12878	blood:	n/a	n/a
26	BATF	chr19:42055692-42056029	GM12878	blood:	n/a	n/a
27	BCL11A	chr19:42041523-42041834	GM12878	blood:	n/a	n/a
28	BCL11A	chr19:42041151-42041932	GM12878	blood:	n/a	n/a
29	BCL11A	chr19:42022922-42023098	GM12878	blood:	n/a	n/a
30	BCL3	chr19:42041346-42042017	GM12878	blood:	n/a	n/a
31	BCL3	chr19:42016218-42016628	GM12878	blood:	n/a	n/a
32	BCL3	chr19:42069451-42070328	A549	lung:	n/a	n/a
33	BCL3	chr19:42016667-42016907	GM12878	blood:	n/a	n/a
34	BCL3	chr19:42016314-42016648	GM12878	blood:	n/a	n/a
35	BCLAF1	chr19:42027598-42028326	GM12878	blood:	n/a	n/a
36	BCLAF1	chr19:42037618-42038574	GM12878	blood:	n/a	n/a
37	BCLAF1	chr19:42076940-42077340	GM12878	blood:	n/a	n/a
38	BCLAF1	chr19:42041201-42042022	GM12878	blood:	n/a	n/a
39	BCLAF1	chr19:42058839-42059499	GM12878	blood:	n/a	n/a
40	BCLAF1	chr19:42055316-42056221	GM12878	blood:	n/a	n/a
41	BHLHE40	chr19:42077052-42077252	K562	blood:	n/a	n/a
42	BHLHE40	chr19:42069778-42070086	GM12878	blood:	n/a	n/a
43	BHLHE40	chr19:42028460-42028816	GM12878	blood:	n/a	chr19:42028587-42028603 chr19:42028585-42028601
44	BHLHE40	chr19:42058942-42059293	GM12878	blood:	n/a	n/a
45	BHLHE40	chr19:42041299-42041952	GM12878	blood:	n/a	n/a
46	BHLHE40	chr19:42022983-42023012	GM12878	blood:	n/a	n/a
47	BHLHE40	chr19:42077015-42077237	GM12878	blood:	n/a	n/a
48	BHLHE40	chr19:42007430-42007554	K562	blood:	n/a	n/a
49	BHLHE40	chr19:42048495-42048573	GM12878	blood:	n/a	n/a
50	BRCA1	chr19:42069853-42070107	HepG2	liver:	n/a	n/a

(count:795 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:42071114-42071164	ProgFib	skin:	n/a
2	chr19:42028551-42028601	NT2-D1	testis:	n/a
3	chr19:42071114-42071164	ProgFib	skin:	n/a
4	chr19:42028551-42028601	NT2-D1	testis:	n/a
5	chr19:42027798-42027848	AoSMC	blood vessel:	n/a
6	chr19:42082485-42082535	HL-60	blood:	n/a
7	chr19:42026012-42026062	GM06990	blood:	n/a
8	chr19:42071114-42071164	RPTEC	kidney:	n/a
9	chr19:42028551-42028601	HRPEpiC	eye:	n/a
10	chr19:42082570-42082620	HNPCEpiC	eye:	n/a
11	chr19:42082485-42082535	HRE	kidney:	n/a
12	chr19:42031482-42031532	PANC-1	pancreas:	n/a
13	chr19:42082350-42082400	AG10803	skin:	n/a
14	chr19:42027798-42027848	HRCEpiC	kidney:	n/a
15	chr19:42082350-42082400	HEK293	kidney:	embryo
16	chr19:42028551-42028601	HCPEpiC	choroid plexus:	n/a
17	chr19:42082570-42082620	HEEpiC	esophagus:	n/a
18	chr19:42026012-42026062	PrEC	prostate:	n/a
19	chr19:42083748-42083798	PFSK-1	brain:	n/a
20	chr19:42082570-42082620	HCT-116	colon:	n/a
21	chr19:42082350-42082400	AoSMC	blood vessel:	n/a
22	chr19:42082102-42082152	LNCaP	prostate:	n/a
23	chr19:42082485-42082535	AG09309	skin:	n/a
24	chr19:42026012-42026062	HepG2	liver:	n/a
25	chr19:42083748-42083798	ovcar-3	ovarian:	n/a
26	chr19:42082267-42082317	SAEC	small airway:	n/a
27	chr19:42082350-42082400	HMEC	breast:	n/a
28	chr19:42082350-42082400	BJ	skin:	n/a
29	chr19:42027798-42027848	ProgFib	skin:	n/a
30	chr19:42027798-42027848	CMK	blood:	n/a
31	chr19:42027798-42027848	HAEpiC	amniotic membrane:	n/a
32	chr19:42082350-42082400	NT2-D1	testis:	n/a
33	chr19:42007378-42007428	HEEpiC	esophagus:	n/a
34	chr19:42082267-42082317	AoSMC	blood vessel:	n/a
35	chr19:42082267-42082317	GM12878	blood:	n/a
36	chr19:42082485-42082535	GM19239	blood:	n/a
37	chr19:42007378-42007428	SK-N-MC	brain:	n/a
38	chr19:42082350-42082400	MCF-7	breast:	n/a
39	chr19:42082350-42082400	NB4	blood:	n/a
40	chr19:42082267-42082317	AG09319	gingival:	n/a
41	chr19:42082485-42082535	Hela-S3	cervix:	n/a
42	chr19:42082350-42082400	HAEpiC	amniotic membrane:	n/a
43	chr19:42081255-42081305	HPAEpiC	pulmonary alveolar:	n/a
44	chr19:42082570-42082620	GM12878	blood:	n/a
45	chr19:42027798-42027848	GM12891	blood:	n/a
46	chr19:42083748-42083798	HIPEpiC	eye:	n/a
47	chr19:42028551-42028601	HCT-116	colon:	n/a
48	chr19:42082350-42082400	HCM	heart:	n/a
49	chr19:42007378-42007428	ProgFib	skin:	n/a
50	chr19:42026012-42026062	BJ	skin:	n/a

(count:45 , 50 per page) page: 1

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

(count:44 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CEACAM21-1	chr19:42082531-42082690	NR_110107
2	lnc-CEACAM21-2	chr19:42041702-42042145	ENSG00000270164.1
3	lnc-ATP5SL-1	chr19:42006494-42006554	ENSG00000249527
4	lnc-CEACAM21-3	chr19:42038230-42038534	ENSG00000268355.1
5	lnc-ATP5SL-1	chr19:42006494-42006554	NONHSAT066453
6	lnc-ATP5SL-1	chr19:42001210-42001335	ENSG00000267107.2
7	lnc-ATP5SL-1	chr19:42006494-42006554	ENSG00000267107.2
8	lnc-ATP5SL-1	chr19:42001210-42001335	NONHSAT066451
9	lnc-ATP5SL-1	chr19:42006494-42006554	ENSG00000249527
10	lnc-ATP5SL-1	chr19:42000448-42001335	ENSG00000267107.2
11	lnc-ATP5SL-2	chr19:42057938-42058639	NONHSAT066473
12	lnc-ATP5SL-1	chr19:42006494-42006540	NONHSAT066451
13	lnc-ATP5SL-1	chr19:42000448-42001335	ENSG00000249527
14	lnc-C19orf69-2	chr19:42061321-42061469	ENSG00000268027.1
15	lnc-C19orf69-2	chr19:42057550-42057672	ENSG00000268027.1
16	lnc-C19orf69-2	chr19:42055888-42055920	ENSG00000268027.1
17	lnc-CEACAM21-1	chr19:42085623-42085981	NR_110107
18	lnc-ATP5SL-1	chr19:42006494-42006539	ENSG00000267107.2
19	lnc-CEACAM21-3	chr19:42037647-42037935	ENSG00000268355.1
20	lnc-CEACAM21-2	chr19:42042960-42043266	ENSG00000270164.1
21	lnc-C19orf69-2	chr19:42060076-42060116	ENSG00000268027.1
22	lnc-CEACAM21-2	chr19:42042090-42042145	ENSG00000270164.1
23	lnc-CEACAM21-3	chr19:42037566-42037693	ENSG00000268355.1
24	lnc-C19orf69-2	chr19:42051554-42051558	ENSG00000268027.1
25	lnc-ATP5SL-1	chr19:42006494-42006538	NONHSAT066457
26	lnc-C19orf69-2	chr19:42061580-42061621	ENSG00000268027.1
27	lnc-CEACAM21-2	chr19:42041545-42043262	ENSG00000270164.1
28	lnc-CEACAM21-2	chr19:42042076-42042145	ENSG00000270164.1
29	lnc-CEACAM21-2	chr19:42042963-42043266	ENSG00000270164.1
30	lnc-C19orf69-2	chr19:42058123-42058198	ENSG00000268027.1
31	lnc-ATP5SL-1	chr19:42006494-42006545	NONHSAT066458
32	lnc-CEACAM21-2	chr19:42041860-42041963	ENSG00000270164.1
33	lnc-CEACAM21-3	chr19:42037786-42038237	ENSG00000268355.1
34	lnc-CEACAM21-2	chr19:42042960-42043264	ENSG00000270164.1
35	lnc-C19orf69-2	chr19:42061580-42061832	ENSG00000268027.1
36	lnc-C19orf69-2	chr19:42061321-42061469	ENSG00000268027.1
37	lnc-C19orf69-2	chr19:42057550-42057864	ENSG00000268027.1
38	lnc-CEACAM21-1	chr19:42083552-42083911	NR_110107
39	lnc-ATP5SL-1	chr19:42001210-42001335	NONHSAT066458
40	lnc-C19orf69-2	chr19:42060076-42060116	ENSG00000268027.1
41	lnc-CEACAM21-2	chr19:42041929-42041963	ENSG00000270164.1
42	lnc-ATP5SL-1	chr19:42001210-42001338	NONHSAT066459
43	lnc-ATP5SL-1	chr19:42006494-42006559	ENSG00000249527
44	lnc-C19orf69-2	chr19:42055888-42055920	ENSG00000268027.1

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
ENSG00000142039	chromatin interactions
ENSG00000268027	chromatin interactions
ENSG00000105341	chromatin interactions
ENSG00000007129	chromatin interactions
ENSG00000105329	chromatin interactions
ENSG00000248098	chromatin interactions
ENSG00000268355	chromatin interactions
TMED7	miRNA target sites
CHST11	miRNA target sites
CNN3	miRNA target sites
SPTBN1	miRNA target sites

Extended variants
information (count: 2823 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:2823 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2191139	chr19:42001210-42001211	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs587767383	chr19:42001220-42001221	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs143185289	chr19:42001223-42001224	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs587726402	chr19:42001293-42001294	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs117272233	chr19:42001301-42001302	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs375847589	chr19:42001322-42001323	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs587681642	chr19:42001332-42001333	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs587714474	chr19:42001340-42001341	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs182936173	chr19:42001346-42001347	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs151210264	chr19:42001369-42001370	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs187484571	chr19:42001421-42001422	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs137918957	chr19:42001427-42001428	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs587615581	chr19:42001438-42001439	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs140399421	chr19:42001503-42001504	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs374200277	chr19:42001519-42001520	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs55711935	chr19:42001535-42001536	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs60522943	chr19:42001557-42001558	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs145417479	chr19:42001617-42001618	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs587649992	chr19:42001620-42001621	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs190961602	chr19:42001631-42001632	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs183486810	chr19:42001632-42001633	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs187876763	chr19:42001633-42001634	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs587688286	chr19:42001699-42001700	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs4567848	chr19:42001721-42001722	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs59758667	chr19:42001732-42001733	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs587644970	chr19:42001768-42001769	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs8106878	chr19:42001798-42001799	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs587761863	chr19:42001842-42001843	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs587657240	chr19:42001854-42001855	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs192310003	chr19:42001874-42001875	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs182894471	chr19:42001885-42001886	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs587631108	chr19:42001941-42001942	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs138053894	chr19:42001987-42001988	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs188282416	chr19:42001988-42001989	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs587693038	chr19:42001995-42001996	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs116318794	chr19:42002029-42002030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76898025	chr19:42002052-42002053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10414658	chr19:42002081-42002082	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs587729998	chr19:42002103-42002104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142362359	chr19:42002117-42002118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs587632013	chr19:42002118-42002119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs587685189	chr19:42002140-42002141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs587745738	chr19:42002168-42002169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192624991	chr19:42002207-42002208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368043483	chr19:42002210-42002211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs587703949	chr19:42002279-42002280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs587751680	chr19:42002303-42002304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35242279	chr19:42002309-42002310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs398034681	chr19:42002337-42002338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369338831	chr19:42002343-42002344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Schizophrenia	18511947	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:1960 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41992800-42001800	Weak transcription	Spleen	Spleen
2	chr19:41999000-42001600	Weak transcription	Adipose Nuclei	Adipose
3	chr19:42000200-42005400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr19:42000800-42003400	Weak transcription	Left Ventricle	heart
5	chr19:42001000-42004200	Weak transcription	Lung	lung
6	chr19:42001600-42002200	Enhancers	Adipose Nuclei	Adipose
7	chr19:42001800-42002200	Enhancers	Primary B cells from peripheral blood	blood
8	chr19:42001800-42004800	Enhancers	Spleen	Spleen
9	chr19:42002000-42002200	Enhancers	Right Ventricle	heart
10	chr19:42002000-42002200	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr19:42002200-42002600	Weak transcription	Adipose Nuclei	Adipose
12	chr19:42002200-42002800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr19:42002200-42004200	Weak transcription	Right Ventricle	heart
14	chr19:42002600-42003200	Enhancers	Pancreas	Pancrea
15	chr19:42002800-42003600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr19:42003000-42003200	Enhancers	Right Atrium	heart
17	chr19:42003200-42004000	Weak transcription	Right Atrium	heart
18	chr19:42003200-42005400	Weak transcription	Pancreas	Pancrea
19	chr19:42003400-42004000	Enhancers	Adipose Nuclei	Adipose
20	chr19:42003400-42004600	Enhancers	Left Ventricle	heart
21	chr19:42003800-42004200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
22	chr19:42004000-42004400	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr19:42004000-42004400	Enhancers	Right Atrium	heart
24	chr19:42004000-42004400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
25	chr19:42004200-42004400	Enhancers	Duodenum Mucosa	Duodenum
26	chr19:42004200-42004400	Flanking Active TSS	Lung	lung
27	chr19:42004200-42004400	Flanking Active TSS	Right Ventricle	heart
28	chr19:42004200-42004400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
29	chr19:42004200-42004600	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
30	chr19:42004200-42005400	Active TSS	Colonic Mucosa	Colon
31	chr19:42004400-42004600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
32	chr19:42004400-42006600	Active TSS	Lung	lung
33	chr19:42004400-42006600	Active TSS	Right Ventricle	heart
34	chr19:42004400-42007000	Active TSS	Psoas Muscle	Psoas
35	chr19:42004400-42007200	Active TSS	Adipose Nuclei	Adipose
36	chr19:42004400-42007200	Active TSS	Right Atrium	heart
37	chr19:42004600-42004800	Weak transcription	Left Ventricle	heart
38	chr19:42004600-42005000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
39	chr19:42004600-42007000	Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr19:42004800-42005400	Weak transcription	Spleen	Spleen
41	chr19:42004800-42007000	Active TSS	Left Ventricle	heart
42	chr19:42005000-42005400	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
43	chr19:42005000-42005600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
44	chr19:42005000-42006000	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr19:42005000-42006600	Active TSS	Esophagus	oesophagus
46	chr19:42005000-42007000	Active TSS	Fetal Muscle Leg	muscle
47	chr19:42005200-42005400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
48	chr19:42005200-42005400	Active TSS	Fetal Muscle Trunk	muscle
49	chr19:42005200-42006000	Bivalent/Poised TSS	Placenta	Placenta
50	chr19:42005200-42006200	Bivalent/Poised TSS	Fetal Intestine Small	intestine

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