Variant report

Variant	esv1835074
Chromosome Location	chr12:50344955-50355665
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:153)
CpG islands
(count:796)
Chromatin interactive
region (count:15)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:153 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr12:50348124-50348453	K562	blood:	n/a	n/a
2	CEBPB	chr12:50346977-50347377	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr12:50349758-50349786	Hela-S3	cervix:	n/a	chr12:50349769-50349780
4	CEBPB	chr12:50349648-50349830	HepG2	liver:	n/a	chr12:50349769-50349780
5	CHD2	chr12:50353482-50354376	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr12:50349005-50349040	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr12:50345950-50346129	Spleen_OC	spleen:	n/a	n/a
8	CTCF	chr12:50348940-50349090	NB4	blood:	n/a	n/a
9	CTCF	chr12:50348900-50349050	HCPEpiC	choroid plexus:	n/a	n/a
10	CTCF	chr12:50347760-50347910	WERI-Rb-1	eye:	n/a	chr12:50347845-50347854 chr12:50347842-50347852 chr12:50347859-50347867
11	CTCF	chr12:50348980-50349130	HCM	heart:	n/a	n/a
12	CTCF	chr12:50348920-50349070	AG04449	skin:	n/a	n/a
13	CTCF	chr12:50348920-50349070	HPAF	blood vessel:	n/a	n/a
14	CTCF	chr12:50348920-50349070	HCPEpiC	choroid plexus:	n/a	n/a
15	CTCF	chr12:50348980-50349130	NHEK	skin:	n/a	n/a
16	CTCF	chr12:50348986-50349059	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr12:50348940-50349090	WERI-Rb-1	eye:	n/a	n/a
18	CTCF	chr12:50348982-50349074	NHEK	skin:	n/a	n/a
19	CTCF	chr12:50347740-50347890	GM12864	blood:	n/a	chr12:50347845-50347854 chr12:50347842-50347852 chr12:50347859-50347867
20	CTCF	chr12:50345943-50346106	Lung_OC	lung:	n/a	n/a
21	CTCF	chr12:50349940-50350090	NB4	blood:	n/a	n/a
22	CTCF	chr12:50348880-50349030	AG04449	skin:	n/a	n/a
23	CTCF	chr12:50347821-50347875	H1-hESC	embryonic stem cell:	n/a	chr12:50347845-50347854 chr12:50347842-50347852 chr12:50347859-50347867
24	CTCF	chr12:50346041-50346074	Pancreas_OC	pancreas:	n/a	n/a
25	CTCF	chr12:50348040-50348190	GM12875	blood:	n/a	n/a
26	CTCF	chr12:50348940-50349030	Fibrobl	skin:	n/a	n/a
27	CTCF	chr12:50348880-50349030	GM12871	blood:	n/a	n/a
28	E2F6	chr12:50348906-50349736	H1-hESC	embryonic stem cell:	n/a	chr12:50349141-50349150 chr12:50349113-50349123
29	E2F6	chr12:50349104-50349569	H1-hESC	embryonic stem cell:	n/a	chr12:50349141-50349150 chr12:50349113-50349123
30	E2F6	chr12:50355084-50355660	H1-hESC	embryonic stem cell:	n/a	n/a
31	E2F6	chr12:50355020-50355563	H1-hESC	embryonic stem cell:	n/a	n/a
32	E2F6	chr12:50355662-50356123	H1-hESC	embryonic stem cell:	n/a	chr12:50355673-50355688
33	ELK1	chr12:50353566-50354007	Hela-S3	cervix:	n/a	n/a
34	EP300	chr12:50353506-50354139	SK-N-SH	brain:	n/a	chr12:50353688-50353697 chr12:50353740-50353750
35	EP300	chr12:50353464-50353940	T-47D	breast:	n/a	chr12:50353688-50353697 chr12:50353740-50353750
36	EP300	chr12:50353164-50354485	ECC-1	luminal epithelium:	n/a	chr12:50353688-50353697 chr12:50353434-50353448 chr12:50353740-50353750
37	EP300	chr12:50353516-50353889	Hela-S3	cervix:	n/a	chr12:50353688-50353697 chr12:50353740-50353750
38	ESR1	chr12:50353317-50354005	ECC-1	luminal epithelium:	n/a	chr12:50353632-50353649 chr12:50353633-50353650
39	ESR1	chr12:50353466-50353852	ECC-1	luminal epithelium:	n/a	chr12:50353632-50353649 chr12:50353633-50353650
40	ESR1	chr12:50353291-50354024	ECC-1	luminal epithelium:	n/a	chr12:50353632-50353649 chr12:50353633-50353650
41	ESR1	chr12:50353468-50353790	T-47D	breast:	n/a	chr12:50353632-50353649 chr12:50353633-50353650
42	ESR1	chr12:50353464-50353822	ECC-1	luminal epithelium:	n/a	chr12:50353632-50353649 chr12:50353633-50353650
43	ESR1	chr12:50353504-50353847	ECC-1	luminal epithelium:	n/a	chr12:50353632-50353649 chr12:50353633-50353650
44	ESR1	chr12:50353448-50354008	ECC-1	luminal epithelium:	n/a	chr12:50353632-50353649 chr12:50353633-50353650
45	FOS	chr12:50353631-50353825	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr12:50353633-50353833	MCF10A-Er-Src	breast:	n/a	n/a
47	FOXA1	chr12:50353596-50353901	T-47D	breast:	n/a	n/a
48	GABPA	chr12:50353542-50353860	H1-hESC	embryonic stem cell:	n/a	n/a
49	GABPA	chr12:50355136-50355444	H1-hESC	embryonic stem cell:	n/a	n/a
50	GABPA	chr12:50349196-50349575	H1-hESC	embryonic stem cell:	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	chr12:50350299-50350349	HRCEpiC	kidney:	n/a
2	chr12:50350299-50350349	K562	blood:	n/a
3	chr12:50349173-50349223	SAEC	small airway:	n/a
4	chr12:50350299-50350349	HRCEpiC	kidney:	n/a
5	chr12:50350299-50350349	K562	blood:	n/a
6	chr12:50349173-50349223	SAEC	small airway:	n/a
7	chr12:50351980-50352030	SAEC	small airway:	n/a
8	chr12:50349522-50349572	GM06990	blood:	n/a
9	chr12:50349329-50349379	LNCaP	prostate:	n/a
10	chr12:50349522-50349572	ovcar-3	ovarian:	n/a
11	chr12:50354998-50355048	T-47D	breast:	n/a
12	chr12:50345765-50345815	HEEpiC	esophagus:	n/a
13	chr12:50345765-50345815	GM19239	blood:	n/a
14	chr12:50355307-50355357	GM19239	blood:	n/a
15	chr12:50354840-50354890	Hela-S3	cervix:	n/a
16	chr12:50354998-50355048	Caco-2	colon:	n/a
17	chr12:50349307-50349357	HepG2	liver:	n/a
18	chr12:50349522-50349572	ProgFib	skin:	n/a
19	chr12:50351980-50352030	HEEpiC	esophagus:	n/a
20	chr12:50354840-50354890	AG09319	gingival:	n/a
21	chr12:50349329-50349379	AG09319	gingival:	n/a
22	chr12:50354962-50355012	HNPCEpiC	eye:	n/a
23	chr12:50349307-50349357	CMK	blood:	n/a
24	chr12:50349173-50349223	HCM	heart:	n/a
25	chr12:50350299-50350349	HUVEC	blood vessel:	n/a
26	chr12:50345765-50345815	HCF	heart:	n/a
27	chr12:50354840-50354890	ProgFib	skin:	n/a
28	chr12:50349307-50349357	RPTEC	kidney:	n/a
29	chr12:50349329-50349379	SK-N-SH	brain:	n/a
30	chr12:50355307-50355357	HNPCEpiC	eye:	n/a
31	chr12:50350299-50350349	RPTEC	kidney:	n/a
32	chr12:50354840-50354890	LNCaP	prostate:	n/a
33	chr12:50349173-50349223	AG09309	skin:	n/a
34	chr12:50353951-50354001	IMR90	lung:	fetal
35	chr12:50354962-50355012	AG09309	skin:	n/a
36	chr12:50354840-50354890	ovcar-3	ovarian:	n/a
37	chr12:50350299-50350349	LNCaP	prostate:	n/a
38	chr12:50347628-50347678	SAEC	small airway:	n/a
39	chr12:50349307-50349357	Hepatocyte	liver:	n/a
40	chr12:50354962-50355012	Caco-2	colon:	n/a
41	chr12:50354840-50354890	AG09309	skin:	n/a
42	chr12:50354840-50354890	PFSK-1	brain:	n/a
43	chr12:50354998-50355048	ProgFib	skin:	n/a
44	chr12:50349173-50349223	HCT-116	colon:	n/a
45	chr12:50355307-50355357	H1-hESC	embryonic stem cell:	embryo
46	chr12:50347628-50347678	MCF-7	breast:	n/a
47	chr12:50354840-50354890	HCT-116	colon:	n/a
48	chr12:50354962-50355012	AG04449	skin:	fetal
49	chr12:50353951-50354001	SK-N-MC	brain:	n/a
50	chr12:50349173-50349223	BJ	skin:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50343242..50347399-chr12:50348384..50352542,7	K562	blood:
2	chr12:50348029..50350628-chr12:50451106..50452724,2	MCF-7	breast:
3	chr12:50341404..50344763-chr12:50349477..50352440,3	MCF-7	breast:
4	chr12:50235392..50237047-chr12:50351829..50354017,3	MCF-7	breast:
5	chr12:50347426..50349461-chr12:50350672..50352646,2	K562	blood:
6	chr12:50340512..50342652-chr12:50346476..50349381,2	MCF-7	breast:
7	chr12:50353765..50356841-chr12:50356981..50360242,4	MCF-7	breast:
8	chr12:50348137..50350764-chr12:50360835..50363285,2	K562	blood:
9	chr12:50353124..50353737-chr4:120987285..120988120,2	Hela-S3	cervix:
10	chr12:50347426..50349461-chr12:50350672..50352646,2	K562	blood:
11	chr12:50343242..50347399-chr12:50348384..50352542,7	K562	blood:
12	chr12:50347500..50349334-chr12:50448823..50450713,2	MCF-7	breast:
13	chr12:50353349..50353967-chr7:86781674..86782611,2	Hela-S3	cervix:
14	chr1:17231927..17232615-chr12:50353208..50354029,2	Hela-S3	cervix:
15	chr12:50331819..50333372-chr12:50347324..50349473,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RACGAP1-1	chr12:50345702-50345871	ENSG00000257588.1
2	lnc-RACGAP1-2	chr12:50349368-50349908	ENSG00000257378.1
3	lnc-RACGAP1-1	chr12:50345295-50345452	ENSG00000257588.1
4	lnc-RACGAP1-2	chr12:50348422-50348440	ENSG00000257378.1
5	lnc-RACGAP1-1	chr12:50352655-50353427	ENSG00000257588.1

No data

Variant related genes	Relation type
ENSG00000257378	TF binding region
AQP5	TF binding region
ENSG00000257378	CpG island
AQP5	CpG island
ENSG00000250938	chromatin interactions
ENSG00000135164	chromatin interactions
ENSG00000110881	chromatin interactions
ENSG00000167580	chromatin interactions
ENSG00000186666	chromatin interactions
ENSG00000161798	chromatin interactions
ENSG00000086159	chromatin interactions
ENSG00000164109	chromatin interactions
ENSG00000257378	chromatin interactions
ENSG00000224046	chromatin interactions

Extended variants
information (count: 453 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:453 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35400945	chr12:50344955-50344956	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs60629501	chr12:50344958-50344959	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs3741559	chr12:50344976-50344977	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs11169223	chr12:50344981-50344982	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs146569075	chr12:50345005-50345006	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs140992866	chr12:50345006-50345007	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs370675055	chr12:50345009-50345010	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs75237639	chr12:50345015-50345016	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs138747917	chr12:50345018-50345019	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs148902761	chr12:50345021-50345022	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs3782319	chr12:50345079-50345080	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs577589888	chr12:50345090-50345091	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs3782320	chr12:50345099-50345100	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs143590056	chr12:50345122-50345123	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs147197762	chr12:50345123-50345124	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs536384802	chr12:50345134-50345135	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs553008312	chr12:50345162-50345163	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs572823145	chr12:50345169-50345170	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs461872	chr12:50345206-50345207	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs558426204	chr12:50345208-50345209	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs369343902	chr12:50345260-50345261	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs467199	chr12:50345265-50345266	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs3782322	chr12:50345300-50345301	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs563377708	chr12:50345323-50345324	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs76143524	chr12:50345324-50345325	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs542628367	chr12:50345335-50345336	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs547754114	chr12:50345347-50345348	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs559815831	chr12:50345382-50345383	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs528540011	chr12:50345388-50345389	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs559371802	chr12:50345392-50345393	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs551955272	chr12:50345409-50345410	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs74091149	chr12:50345415-50345416	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs150870008	chr12:50345429-50345430	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs114022843	chr12:50345437-50345438	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs567296170	chr12:50345455-50345456	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs139531033	chr12:50345471-50345472	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs546244012	chr12:50345479-50345480	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs547847320	chr12:50345497-50345498	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs368935304	chr12:50345504-50345505	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs371450219	chr12:50345541-50345542	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs189095371	chr12:50345555-50345556	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs34155253	chr12:50345590-50345591	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs74091150	chr12:50345598-50345599	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs375489041	chr12:50345602-50345603	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs461937	chr12:50345625-50345626	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs11169225	chr12:50345671-50345672	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs554465910	chr12:50345690-50345691	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs114162274	chr12:50345697-50345698	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs149688331	chr12:50345710-50345711	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs34119994	chr12:50345711-50345712	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Cancer	17160897	CNVD
Melanoma	20877625	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:403 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50339400-50353600	Weak transcription	Right Atrium	heart
2	chr12:50340200-50346000	Weak transcription	Lung	lung
3	chr12:50342200-50345400	Weak transcription	Hela-S3	cervix
4	chr12:50342400-50346000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:50343200-50345800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
6	chr12:50344000-50345000	Weak transcription	Fetal Kidney	kidney
7	chr12:50344000-50347800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:50344200-50345000	Enhancers	Pancreas	Pancrea
9	chr12:50344200-50345400	Enhancers	Adipose Nuclei	Adipose
10	chr12:50344600-50347600	Enhancers	Spleen	Spleen
11	chr12:50344800-50346200	Weak transcription	Stomach Mucosa	stomach
12	chr12:50345000-50346200	Weak transcription	Pancreas	Pancrea
13	chr12:50345000-50346400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:50345000-50346800	Active TSS	Fetal Kidney	kidney
15	chr12:50345200-50347400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
16	chr12:50345400-50347200	Enhancers	Hela-S3	cervix
17	chr12:50345400-50347200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
18	chr12:50346000-50346200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:50346000-50346600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:50346000-50347200	Enhancers	Lung	lung
21	chr12:50346200-50346800	Enhancers	Liver	Liver
22	chr12:50346200-50347000	Enhancers	Stomach Mucosa	stomach
23	chr12:50346200-50347400	Enhancers	Pancreas	Pancrea
24	chr12:50346400-50346800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr12:50346600-50346800	Bivalent Enhancer	Fetal Thymus	thymus
26	chr12:50347000-50347200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
27	chr12:50347000-50347400	Enhancers	Esophagus	oesophagus
28	chr12:50347000-50347600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr12:50347000-50348800	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr12:50347200-50347600	Flanking Active TSS	Hela-S3	cervix
31	chr12:50347200-50348400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr12:50347400-50347600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
33	chr12:50347400-50353400	Weak transcription	Pancreas	Pancrea
34	chr12:50347600-50347800	Bivalent Enhancer	Placenta	Placenta
35	chr12:50347600-50348800	Enhancers	Hela-S3	cervix
36	chr12:50347600-50349000	Weak transcription	Spleen	Spleen
37	chr12:50347600-50349400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:50347800-50348000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:50347800-50348600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:50347800-50349800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:50348200-50348400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
42	chr12:50348400-50348600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
43	chr12:50348400-50348800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr12:50348400-50348800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:50348400-50348800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
46	chr12:50348400-50349000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:50348400-50349600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:50348400-50350800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:50348600-50348800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
50	chr12:50348600-50349000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell

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