Variant report

Variant	esv3386713
Chromosome Location	chr19:40794161-40828617
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:40811167-40811508	HepG2	liver:	n/a	n/a
2	ATF1	chr19:40820641-40820904	K562	blood:	n/a	n/a
3	BACH1	chr19:40808697-40808767	K562	blood:	n/a	n/a
4	BHLHE40	chr19:40811307-40811599	GM12878	blood:	n/a	n/a
5	BRCA1	chr19:40828562-40828581	GM12878	blood:	n/a	n/a
6	CEBPB	chr19:40820784-40820905	K562	blood:	n/a	n/a
7	CEBPB	chr19:40820724-40820747	HepG2	liver:	n/a	n/a
8	CEBPB	chr19:40813702-40813848	K562	blood:	n/a	n/a
9	CEBPB	chr19:40821978-40822144	H1-hESC	embryonic stem cell:	n/a	chr19:40822020-40822031
10	CEBPB	chr19:40824714-40824858	HepG2	liver:	n/a	n/a
11	CEBPB	chr19:40811371-40811571	H1-hESC	embryonic stem cell:	n/a	n/a
12	CREB1	chr19:40811318-40811501	A549	lung:	n/a	n/a
13	CTCF	chr19:40811360-40811510	GM12875	blood:	n/a	chr19:40811406-40811422 chr19:40811405-40811423 chr19:40811408-40811421 chr19:40811407-40811428
14	CTCF	chr19:40811320-40811470	GM12878	blood:	n/a	chr19:40811406-40811422 chr19:40811405-40811423 chr19:40811408-40811421 chr19:40811407-40811428
15	CTCF	chr19:40811200-40811695	HCT-116	colon:	n/a	chr19:40811406-40811422 chr19:40811405-40811423 chr19:40811408-40811421 chr19:40811407-40811428
16	CTCF	chr19:40811264-40811582	Spleen_OC	spleen:	n/a	chr19:40811406-40811422 chr19:40811405-40811423 chr19:40811408-40811421 chr19:40811407-40811428
17	CTCF	chr19:40811307-40811547	Gliobla	brain:	n/a	chr19:40811406-40811422 chr19:40811405-40811423 chr19:40811408-40811421 chr19:40811407-40811428
18	CTCF	chr19:40811296-40811523	GM10266	blood:	n/a	chr19:40811406-40811422 chr19:40811405-40811423 chr19:40811408-40811421 chr19:40811407-40811428
19	CTCF	chr19:40811340-40811490	GM12801	blood:	n/a	chr19:40811406-40811422 chr19:40811405-40811423 chr19:40811408-40811421 chr19:40811407-40811428
20	CTCF	chr19:40811320-40811470	HUVEC	blood vessel:	n/a	chr19:40811406-40811422 chr19:40811405-40811423 chr19:40811408-40811421 chr19:40811407-40811428
21	CTCF	chr19:40811340-40811490	NHDF-neo	bronchial:	n/a	chr19:40811406-40811422 chr19:40811405-40811423 chr19:40811408-40811421 chr19:40811407-40811428
22	CTCF	chr19:40811320-40811470	AG09319	gingival:	n/a	chr19:40811406-40811422 chr19:40811405-40811423 chr19:40811408-40811421 chr19:40811407-40811428
23	CTCF	chr19:40811360-40811510	GM12869	blood:	n/a	chr19:40811406-40811422 chr19:40811405-40811423 chr19:40811408-40811421 chr19:40811407-40811428
24	CTCF	chr19:40811178-40811617	A549	lung:	n/a	chr19:40811406-40811422 chr19:40811405-40811423 chr19:40811408-40811421 chr19:40811407-40811428
25	CTCF	chr19:40810000-40810150	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr19:40811340-40811490	AG10803	skin:	n/a	chr19:40811406-40811422 chr19:40811405-40811423 chr19:40811408-40811421 chr19:40811407-40811428
27	CTCF	chr19:40811292-40811564	K562	blood:	n/a	chr19:40811406-40811422 chr19:40811405-40811423 chr19:40811408-40811421 chr19:40811407-40811428
28	CTCF	chr19:40811360-40811510	GM12871	blood:	n/a	chr19:40811406-40811422 chr19:40811405-40811423 chr19:40811408-40811421 chr19:40811407-40811428
29	CTCF	chr19:40811260-40811410	NHDF-neo	bronchial:	n/a	n/a
30	CTCF	chr19:40811279-40811539	LNCaP	prostate:	n/a	chr19:40811406-40811422 chr19:40811405-40811423 chr19:40811408-40811421 chr19:40811407-40811428
31	CTCF	chr19:40811325-40811541	ProgFib	skin:	n/a	chr19:40811406-40811422 chr19:40811405-40811423 chr19:40811408-40811421 chr19:40811407-40811428
32	CTCF	chr19:40811380-40811530	WI-38	lung:	n/a	chr19:40811406-40811422 chr19:40811405-40811423 chr19:40811408-40811421 chr19:40811407-40811428
33	CTCF	chr19:40811340-40811490	NHEK	skin:	n/a	chr19:40811406-40811422 chr19:40811405-40811423 chr19:40811408-40811421 chr19:40811407-40811428
34	CTCF	chr19:40811299-40811527	LNCaP	prostate:	n/a	chr19:40811406-40811422 chr19:40811405-40811423 chr19:40811408-40811421 chr19:40811407-40811428
35	CTCF	chr19:40811166-40811599	K562	blood:	n/a	chr19:40811406-40811422 chr19:40811405-40811423 chr19:40811408-40811421 chr19:40811407-40811428
36	CTCF	chr19:40811400-40811550	GM06990	blood:	n/a	chr19:40811406-40811422 chr19:40811405-40811423 chr19:40811408-40811421 chr19:40811407-40811428
37	CTCF	chr19:40811029-40811114	GM10248	blood:	n/a	n/a
38	CTCF	chr19:40811340-40811490	GM12866	blood:	n/a	chr19:40811406-40811422 chr19:40811405-40811423 chr19:40811408-40811421 chr19:40811407-40811428
39	CTCF	chr19:40811400-40811550	GM12870	blood:	n/a	chr19:40811406-40811422 chr19:40811405-40811423 chr19:40811408-40811421 chr19:40811407-40811428
40	CTCF	chr19:40811265-40811607	H1-hESC	embryonic stem cell:	n/a	chr19:40811406-40811422 chr19:40811405-40811423 chr19:40811408-40811421 chr19:40811407-40811428
41	CTCF	chr19:40811340-40811490	AG04450	lung:	n/a	chr19:40811406-40811422 chr19:40811405-40811423 chr19:40811408-40811421 chr19:40811407-40811428
42	CTCF	chr19:40810256-40811961	A549	lung:	n/a	chr19:40811406-40811422 chr19:40811405-40811423 chr19:40811408-40811421 chr19:40811407-40811428
43	CTCF	chr19:40818560-40818710	GM12872	blood:	n/a	n/a
44	CTCF	chr19:40811340-40811490	BJ	skin:	n/a	chr19:40811406-40811422 chr19:40811405-40811423 chr19:40811408-40811421 chr19:40811407-40811428
45	CTCF	chr19:40811216-40811628	IMR90	lung:	n/a	chr19:40811406-40811422 chr19:40811405-40811423 chr19:40811408-40811421 chr19:40811407-40811428
46	CTCF	chr19:40811300-40811450	HCM	heart:	n/a	chr19:40811406-40811422 chr19:40811405-40811423 chr19:40811408-40811421 chr19:40811407-40811428
47	CTCF	chr19:40818527-40818809	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr19:40811340-40811490	HBMEC	blood vessel:	n/a	chr19:40811406-40811422 chr19:40811405-40811423 chr19:40811408-40811421 chr19:40811407-40811428
49	CTCF	chr19:40811315-40811542	GM19240	blood:	n/a	chr19:40811406-40811422 chr19:40811405-40811423 chr19:40811408-40811421 chr19:40811407-40811428
50	CTCF	chr19:40811344-40811518	MCF-7	breast:	n/a	chr19:40811406-40811422 chr19:40811405-40811423 chr19:40811408-40811421 chr19:40811407-40811428

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:40828026-40828076	SKMC	muscle:	n/a
2	chr19:40828026-40828076	SKMC	muscle:	n/a
3	chr19:40827608-40827658	AG09309	skin:	n/a
4	chr19:40828026-40828076	SK-N-SH_RA	brain:	n/a
5	chr19:40828026-40828076	HPAEpiC	pulmonary alveolar:	n/a
6	chr19:40828026-40828076	AG09309	skin:	n/a
7	chr19:40828026-40828076	HCF	heart:	n/a
8	chr19:40794895-40794945	HNPCEpiC	eye:	n/a
9	chr19:40827608-40827658	HIPEpiC	eye:	n/a
10	chr19:40828026-40828076	ECC-1	luminal epithelium:	n/a
11	chr19:40827608-40827658	CMK	blood:	n/a
12	chr19:40828026-40828076	A549	lung:	n/a
13	chr19:40827608-40827658	A549	lung:	n/a
14	chr19:40794895-40794945	Hela-S3	cervix:	n/a
15	chr19:40827608-40827658	HUVEC	blood vessel:	n/a
16	chr19:40827608-40827658	Hepatocyte	liver:	n/a
17	chr19:40827608-40827658	Jurkat	blood:	n/a
18	chr19:40794895-40794945	ECC-1	luminal epithelium:	n/a
19	chr19:40794895-40794945	ovcar-3	ovarian:	n/a
20	chr19:40827608-40827658	HRE	kidney:	n/a
21	chr19:40794895-40794945	HepG2	liver:	n/a
22	chr19:40828026-40828076	HEK293	kidney:	embryo
23	chr19:40828026-40828076	HIPEpiC	eye:	n/a
24	chr19:40827608-40827658	HCF	heart:	n/a
25	chr19:40794895-40794945	HUVEC	blood vessel:	n/a
26	chr19:40828026-40828076	HMEC	breast:	n/a
27	chr19:40828026-40828076	Jurkat	blood:	n/a
28	chr19:40794895-40794945	AG04450	lung:	fetal
29	chr19:40794895-40794945	SK-N-MC	brain:	n/a
30	chr19:40794895-40794945	K562	blood:	n/a
31	chr19:40794895-40794945	T-47D	breast:	n/a
32	chr19:40828026-40828076	NHDF-neo	bronchial:	n/a
33	chr19:40827608-40827658	SK-N-MC	brain:	n/a
34	chr19:40827608-40827658	HCPEpiC	choroid plexus:	n/a
35	chr19:40827608-40827658	HMEC	breast:	n/a
36	chr19:40828026-40828076	PANC-1	pancreas:	n/a
37	chr19:40794895-40794945	MCF10A-Er-Src	breast:	n/a
38	chr19:40827608-40827658	NB4	blood:	n/a
39	chr19:40827608-40827658	SK-N-SH	brain:	n/a
40	chr19:40827608-40827658	NHDF-neo	bronchial:	n/a
41	chr19:40794895-40794945	Caco-2	colon:	n/a
42	chr19:40828026-40828076	HEEpiC	esophagus:	n/a
43	chr19:40828026-40828076	AoSMC	blood vessel:	n/a
44	chr19:40828026-40828076	HRCEpiC	kidney:	n/a
45	chr19:40794895-40794945	NHBE	bronchial:	n/a
46	chr19:40794895-40794945	RPTEC	kidney:	n/a
47	chr19:40828026-40828076	CMK	blood:	n/a
48	chr19:40828026-40828076	PrEC	prostate:	n/a
49	chr19:40794895-40794945	AG10803	skin:	n/a
50	chr19:40827608-40827658	LNCaP	prostate:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:40817646..40819198-chr19:40820756..40822692,2	K562	blood:
2	chr19:40818000..40820409-chr19:40826750..40828476,2	MCF-7	breast:
3	chr19:40827061..40829040-chr19:40831125..40833432,2	K562	blood:
4	chr19:40811339..40811896-chr19:41140074..41141080,5	MCF-7	breast:
5	chr19:40796082..40798734-chr19:40804561..40806997,2	K562	blood:
6	chr19:40790012..40793382-chr19:40793975..40796173,3	K562	blood:
7	chr19:40814675..40816764-chr19:40819751..40822221,2	K562	blood:
8	chr19:40760480..40763198-chr19:40795200..40797893,2	MCF-7	breast:
9	chr19:40790580..40793140-chr19:40796206..40798207,2	MCF-7	breast:
10	chr19:40794373..40797365-chr19:40820678..40822952,2	K562	blood:
11	chr19:40825864..40828845-chr19:40848574..40850485,2	K562	blood:
12	chr19:40821045..40823190-chr19:40827366..40829616,2	MCF-7	breast:
13	chr19:40817646..40819198-chr19:40820756..40822692,2	K562	blood:
14	chr19:40810918..40811946-chr19:41104246..41105234,4	K562	blood:
15	chr19:40791303..40794605-chr19:40798342..40800635,3	K562	blood:
16	chr19:40791790..40793403-chr19:40794499..40796006,2	K562	blood:
17	chr19:40814675..40816764-chr19:40819751..40822221,2	K562	blood:
18	chr19:40790403..40792458-chr19:40802538..40805158,2	MCF-7	breast:
19	chr19:40794373..40797365-chr19:40820678..40822952,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLD3-3	chr19:40819394-40825438	NONHSAT066371
2	lnc-PLD3-4	chr19:40795130-40795473	NONHSAT066368
3	lnc-PLD3-3	chr19:40818459-40819345	NONHSAT066371
4	lnc-AKT2-2	chr19:40804388-40805930	NONHSAT066369
5	lnc-AKT2-1	chr19:40794667-40794885	NONHSAT066367
6	lnc-AKT2-1	chr19:40794492-40794611	NONHSAT066367
7	lnc-AKT2-1	chr19:40794226-40794422	NONHSAT066367

Variant related genes	Relation type
C19orf47	TF binding region
RNU6-945P	TF binding region
AKT2	TF binding region
C19orf47	CpG island
RNU6-945P	CpG island
AKT2	CpG island
ENSG00000160392	chromatin interactions
ENSG00000105221	chromatin interactions
ENSG00000206674	chromatin interactions
ENSG00000090006	chromatin interactions

Extended variants
information (count: 1165 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1165 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562395298	chr19:40794164-40794165	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs187212100	chr19:40794174-40794175	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs71356901	chr19:40794187-40794188	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs369700025	chr19:40794204-40794205	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs539985008	chr19:40794230-40794231	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs373912202	chr19:40794232-40794233	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs533361344	chr19:40794242-40794243	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs11673367	chr19:40794259-40794260	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs566446031	chr19:40794276-40794277	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs199650715	chr19:40794298-40794299	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs533775226	chr19:40794339-40794340	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs191966967	chr19:40794346-40794347	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs567532493	chr19:40794352-40794353	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs148986324	chr19:40794363-40794364	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs143783507	chr19:40794369-40794370	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs183550091	chr19:40794399-40794400	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs368304312	chr19:40794403-40794404	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs545228660	chr19:40794421-40794422	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs570338290	chr19:40794450-40794451	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs148111300	chr19:40794451-40794452	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs573296319	chr19:40794513-40794514	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs369952018	chr19:40794570-40794571	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs540617552	chr19:40794608-40794609	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs142483027	chr19:40794627-40794628	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs373399249	chr19:40794714-40794715	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs146273393	chr19:40794728-40794729	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs188429947	chr19:40794761-40794762	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs139049337	chr19:40794779-40794780	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs533301197	chr19:40794782-40794783	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs112370646	chr19:40794783-40794784	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs542780874	chr19:40794788-40794789	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs555783548	chr19:40794798-40794799	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs574021423	chr19:40794892-40794893	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs552258789	chr19:40794896-40794897	Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs191718858	chr19:40794901-40794902	Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs370133749	chr19:40794911-40794912	Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs548950862	chr19:40794980-40794981	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs567119990	chr19:40795037-40795038	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs12977474	chr19:40795091-40795092	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs182774043	chr19:40795114-40795115	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs571575147	chr19:40795148-40795149	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs376004963	chr19:40795182-40795183	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs186781761	chr19:40795195-40795196	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs553730043	chr19:40795257-40795258	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs75013103	chr19:40795295-40795296	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs534066239	chr19:40795332-40795333	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs555845754	chr19:40795343-40795344	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs535201062	chr19:40795348-40795349	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs73044530	chr19:40795390-40795391	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs184386731	chr19:40795404-40795405	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Lung cancer	21569311	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
Anaplastic thyroid cancer	18753363	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:458 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40792000-40802600	Weak transcription	Fetal Brain Female	brain
2	chr19:40792000-40807600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:40792000-40811400	Weak transcription	Brain Anterior Caudate	brain
4	chr19:40792000-40826200	Weak transcription	Hela-S3	cervix
5	chr19:40792200-40795800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:40792200-40807600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr19:40792200-40810200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr19:40792200-40821400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr19:40792200-40821400	Weak transcription	Fetal Intestine Small	intestine
10	chr19:40792400-40802200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr19:40792600-40794800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:40793000-40797800	Weak transcription	HepG2	liver
13	chr19:40793000-40798400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr19:40793000-40805400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr19:40793000-40810200	Weak transcription	Adipose Nuclei	Adipose
16	chr19:40793000-40821400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr19:40793000-40822000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr19:40793200-40794800	Weak transcription	Thymus	Thymus
19	chr19:40793200-40820600	Weak transcription	HSMM	muscle
20	chr19:40793200-40820800	Weak transcription	Dnd41	blood
21	chr19:40793200-40822000	Weak transcription	Fetal Stomach	stomach
22	chr19:40793800-40821800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr19:40796600-40798400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr19:40797800-40798800	Enhancers	HepG2	liver
25	chr19:40798400-40798800	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr19:40798400-40799000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr19:40798400-40799000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr19:40798400-40799000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr19:40798600-40799000	Enhancers	H9 Cell Line	embryonic stem cell
30	chr19:40798800-40800400	Weak transcription	HepG2	liver
31	chr19:40799000-40801200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr19:40799800-40800800	Weak transcription	Thymus	Thymus
33	chr19:40800000-40800400	Enhancers	Brain Angular Gyrus	brain
34	chr19:40800000-40800800	Enhancers	Brain Hippocampus Middle	brain
35	chr19:40800000-40800800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr19:40800000-40801000	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr19:40800000-40801000	Enhancers	Brain Substantia Nigra	brain
38	chr19:40800200-40801000	Enhancers	Brain Cingulate Gyrus	brain
39	chr19:40800400-40800800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr19:40800400-40801000	Enhancers	HepG2	liver
41	chr19:40800400-40826400	Weak transcription	Brain Angular Gyrus	brain
42	chr19:40800800-40822000	Weak transcription	Brain Hippocampus Middle	brain
43	chr19:40801000-40803800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr19:40801000-40804000	Weak transcription	Brain Substantia Nigra	brain
45	chr19:40802800-40828000	Weak transcription	NH-A	brain
46	chr19:40803000-40822000	Weak transcription	Lung	lung
47	chr19:40803200-40805000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr19:40803800-40804000	Enhancers	Brain Cingulate Gyrus	brain
49	chr19:40803800-40822000	Weak transcription	Primary T cells from cord blood	blood
50	chr19:40805400-40808400	Weak transcription	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links