Variant report

Variant	esv1797115
Chromosome Location	chr12:50347938-50355665
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:136)
CpG islands
(count:674)
Chromatin interactive
region (count:14)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:136 , 50 per page) page: 1 2 3

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	chr12:50349758-50349786	Hela-S3	cervix:	n/a	chr12:50349769-50349780
3	CEBPB	chr12:50349648-50349830	HepG2	liver:	n/a	chr12:50349769-50349780
4	CHD2	chr12:50353482-50354376	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr12:50348920-50349070	HPAF	blood vessel:	n/a	n/a
6	CTCF	chr12:50348980-50349130	NHEK	skin:	n/a	n/a
7	CTCF	chr12:50348040-50348190	GM12875	blood:	n/a	n/a
8	CTCF	chr12:50348940-50349090	NB4	blood:	n/a	n/a
9	CTCF	chr12:50348920-50349070	HCPEpiC	choroid plexus:	n/a	n/a
10	CTCF	chr12:50349005-50349040	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr12:50348982-50349074	NHEK	skin:	n/a	n/a
12	CTCF	chr12:50348900-50349050	HCPEpiC	choroid plexus:	n/a	n/a
13	CTCF	chr12:50348986-50349059	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr12:50349940-50350090	NB4	blood:	n/a	n/a
15	CTCF	chr12:50348940-50349030	Fibrobl	skin:	n/a	n/a
16	CTCF	chr12:50348880-50349030	GM12871	blood:	n/a	n/a
17	CTCF	chr12:50348920-50349070	AG04449	skin:	n/a	n/a
18	CTCF	chr12:50348940-50349090	WERI-Rb-1	eye:	n/a	n/a
19	CTCF	chr12:50348880-50349030	AG04449	skin:	n/a	n/a
20	CTCF	chr12:50348980-50349130	HCM	heart:	n/a	n/a
21	E2F6	chr12:50348906-50349736	H1-hESC	embryonic stem cell:	n/a	chr12:50349141-50349150 chr12:50349113-50349123
22	E2F6	chr12:50355662-50356123	H1-hESC	embryonic stem cell:	n/a	chr12:50355673-50355688
23	E2F6	chr12:50355020-50355563	H1-hESC	embryonic stem cell:	n/a	n/a
24	E2F6	chr12:50349104-50349569	H1-hESC	embryonic stem cell:	n/a	chr12:50349141-50349150 chr12:50349113-50349123
25	E2F6	chr12:50355084-50355660	H1-hESC	embryonic stem cell:	n/a	n/a
26	ELK1	chr12:50353566-50354007	Hela-S3	cervix:	n/a	n/a
27	EP300	chr12:50353516-50353889	Hela-S3	cervix:	n/a	chr12:50353688-50353697 chr12:50353740-50353750
28	EP300	chr12:50353464-50353940	T-47D	breast:	n/a	chr12:50353688-50353697 chr12:50353740-50353750
29	EP300	chr12:50353506-50354139	SK-N-SH	brain:	n/a	chr12:50353688-50353697 chr12:50353740-50353750
30	EP300	chr12:50353164-50354485	ECC-1	luminal epithelium:	n/a	chr12:50353688-50353697 chr12:50353434-50353448 chr12:50353740-50353750
31	ESR1	chr12:50353466-50353852	ECC-1	luminal epithelium:	n/a	chr12:50353632-50353649 chr12:50353633-50353650
32	ESR1	chr12:50353291-50354024	ECC-1	luminal epithelium:	n/a	chr12:50353632-50353649 chr12:50353633-50353650
33	ESR1	chr12:50353448-50354008	ECC-1	luminal epithelium:	n/a	chr12:50353632-50353649 chr12:50353633-50353650
34	ESR1	chr12:50353468-50353790	T-47D	breast:	n/a	chr12:50353632-50353649 chr12:50353633-50353650
35	ESR1	chr12:50353317-50354005	ECC-1	luminal epithelium:	n/a	chr12:50353632-50353649 chr12:50353633-50353650
36	ESR1	chr12:50353504-50353847	ECC-1	luminal epithelium:	n/a	chr12:50353632-50353649 chr12:50353633-50353650
37	ESR1	chr12:50353464-50353822	ECC-1	luminal epithelium:	n/a	chr12:50353632-50353649 chr12:50353633-50353650
38	FOS	chr12:50353633-50353833	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr12:50353631-50353825	MCF10A-Er-Src	breast:	n/a	n/a
40	FOXA1	chr12:50353596-50353901	T-47D	breast:	n/a	n/a
41	GABPA	chr12:50355136-50355444	H1-hESC	embryonic stem cell:	n/a	n/a
42	GABPA	chr12:50349196-50349575	H1-hESC	embryonic stem cell:	n/a	n/a
43	GABPA	chr12:50353542-50353860	H1-hESC	embryonic stem cell:	n/a	n/a
44	GTF2F1	chr12:50355350-50355360	H1-hESC	embryonic stem cell:	n/a	n/a
45	GTF2F1	chr12:50352966-50353177	Hela-S3	cervix:	n/a	n/a
46	GTF2F1	chr12:50353425-50353993	Hela-S3	cervix:	n/a	n/a
47	JUN	chr12:50349792-50349847	HepG2	liver:	n/a	n/a
48	MAFK	chr12:50353510-50353979	Hela-S3	cervix:	n/a	chr12:50353884-50353899
49	MAX	chr12:50355155-50355579	H1-hESC	embryonic stem cell:	n/a	n/a
50	MAX	chr12:50353473-50354036	Hela-S3	cervix:	n/a	n/a

(count:674 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:50349522-50349572	BE2_C	brain:	n/a
2	chr12:50349173-50349223	HRPEpiC	eye:	n/a
3	chr12:50349329-50349379	HNPCEpiC	eye:	n/a
4	chr12:50349522-50349572	BE2_C	brain:	n/a
5	chr12:50349173-50349223	HRPEpiC	eye:	n/a
6	chr12:50349329-50349379	HNPCEpiC	eye:	n/a
7	chr12:50349329-50349379	HRCEpiC	kidney:	n/a
8	chr12:50354998-50355048	AoSMC	blood vessel:	n/a
9	chr12:50349522-50349572	HPAEpiC	pulmonary alveolar:	n/a
10	chr12:50350299-50350349	ProgFib	skin:	n/a
11	chr12:50350299-50350349	HPAEpiC	pulmonary alveolar:	n/a
12	chr12:50349173-50349223	U87	brain:	n/a
13	chr12:50350299-50350349	H1-hESC	embryonic stem cell:	embryo
14	chr12:50349329-50349379	Caco-2	colon:	n/a
15	chr12:50355307-50355357	HIPEpiC	eye:	n/a
16	chr12:50353951-50354001	SK-N-SH_RA	brain:	n/a
17	chr12:50353951-50354001	SK-N-MC	brain:	n/a
18	chr12:50353951-50354001	Hela-S3	cervix:	n/a
19	chr12:50349307-50349357	AG04449	skin:	fetal
20	chr12:50349307-50349357	T-47D	breast:	n/a
21	chr12:50354998-50355048	PrEC	prostate:	n/a
22	chr12:50349173-50349223	T-47D	breast:	n/a
23	chr12:50349329-50349379	HepG2	liver:	n/a
24	chr12:50351980-50352030	HMEC	breast:	n/a
25	chr12:50349329-50349379	ovcar-3	ovarian:	n/a
26	chr12:50351980-50352030	PANC-1	pancreas:	n/a
27	chr12:50354998-50355048	AG09309	skin:	n/a
28	chr12:50349307-50349357	H1-hESC	embryonic stem cell:	embryo
29	chr12:50354840-50354890	AG09309	skin:	n/a
30	chr12:50351980-50352030	HL-60	blood:	n/a
31	chr12:50349173-50349223	BJ	skin:	n/a
32	chr12:50350299-50350349	HRCEpiC	kidney:	n/a
33	chr12:50354840-50354890	HIPEpiC	eye:	n/a
34	chr12:50354998-50355048	BJ	skin:	n/a
35	chr12:50354840-50354890	HRPEpiC	eye:	n/a
36	chr12:50350299-50350349	HIPEpiC	eye:	n/a
37	chr12:50349522-50349572	GM12878	blood:	n/a
38	chr12:50349329-50349379	MCF10A-Er-Src	breast:	n/a
39	chr12:50349307-50349357	Hepatocyte	liver:	n/a
40	chr12:50349329-50349379	ECC-1	luminal epithelium:	n/a
41	chr12:50349329-50349379	Hela-S3	cervix:	n/a
42	chr12:50350299-50350349	HL-60	blood:	n/a
43	chr12:50354998-50355048	NB4	blood:	n/a
44	chr12:50355307-50355357	HRPEpiC	eye:	n/a
45	chr12:50350299-50350349	HCF	heart:	n/a
46	chr12:50353951-50354001	GM06990	blood:	n/a
47	chr12:50354840-50354890	HRE	kidney:	n/a
48	chr12:50349329-50349379	AG04449	skin:	fetal
49	chr12:50349522-50349572	H1-hESC	embryonic stem cell:	embryo
50	chr12:50349329-50349379	HRE	kidney:	n/a

(count:14 , 50 per page) page: 1

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

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RACGAP1-2	chr12:50348422-50348440	ENSG00000257378.1
2	lnc-RACGAP1-2	chr12:50349368-50349908	ENSG00000257378.1
3	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
ENSG00000135164	chromatin interactions
ENSG00000250938	chromatin interactions
ENSG00000186666	chromatin interactions
ENSG00000110881	chromatin interactions
ENSG00000086159	chromatin interactions
ENSG00000161798	chromatin interactions
ENSG00000167580	chromatin interactions
ENSG00000164109	chromatin interactions
ENSG00000224046	chromatin interactions

Extended variants
information (count: 328 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:328 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11169226	chr12:50347938-50347939	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs104894333	chr12:50347951-50347952	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs104894330	chr12:50347954-50347955	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144891220	chr12:50347955-50347956	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139064235	chr12:50347967-50347968	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371158770	chr12:50347970-50347971	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552650143	chr12:50347982-50347983	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs151219353	chr12:50348000-50348001	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373700329	chr12:50348010-50348011	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143886391	chr12:50348015-50348016	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs104894334	chr12:50348016-50348017	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146384248	chr12:50348023-50348024	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369985708	chr12:50348024-50348025	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150344189	chr12:50348032-50348033	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs139771821	chr12:50348035-50348036	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs201617819	chr12:50348036-50348037	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs369214822	chr12:50348037-50348038	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs138000704	chr12:50348048-50348049	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs426496	chr12:50348078-50348079	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs104894335	chr12:50348100-50348101	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs113292126	chr12:50348118-50348119	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs376460719	chr12:50348127-50348128	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs369703113	chr12:50348128-50348129	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs377664337	chr12:50348215-50348216	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs554296782	chr12:50348269-50348270	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs563090498	chr12:50348270-50348271	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs2277354	chr12:50348273-50348274	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs116041884	chr12:50348292-50348293	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs575607471	chr12:50348309-50348310	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs12372344	chr12:50348359-50348360	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs149162809	chr12:50348361-50348362	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs142377054	chr12:50348376-50348377	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs151241738	chr12:50348380-50348381	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs140461998	chr12:50348397-50348398	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs199999215	chr12:50348424-50348425	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
36	rs147039983	chr12:50348425-50348426	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
37	rs104894337	chr12:50348430-50348431	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
38	rs104894328	chr12:50348446-50348447	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs193922495	chr12:50348447-50348448	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs104894341	chr12:50348455-50348456	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs201812544	chr12:50348466-50348467	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs138177134	chr12:50348507-50348508	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs142276755	chr12:50348528-50348529	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs145912222	chr12:50348535-50348536	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs551896297	chr12:50348537-50348538	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs138612169	chr12:50348539-50348540	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs146303154	chr12:50348542-50348543	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs139374694	chr12:50348595-50348596	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs185974768	chr12:50348604-50348605	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs117922536	chr12:50348642-50348643	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	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:373 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50339400-50353600	Weak transcription	Right Atrium	heart
2	chr12:50347000-50348800	Bivalent Enhancer	Fetal Muscle Leg	muscle
3	chr12:50347200-50348400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr12:50347400-50353400	Weak transcription	Pancreas	Pancrea
5	chr12:50347600-50348800	Enhancers	Hela-S3	cervix
6	chr12:50347600-50349000	Weak transcription	Spleen	Spleen
7	chr12:50347600-50349400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:50347800-50348000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:50347800-50348600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:50347800-50349800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:50348200-50348400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
12	chr12:50348400-50348600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
13	chr12:50348400-50348800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:50348400-50348800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:50348400-50348800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr12:50348400-50349000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:50348400-50349600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:50348400-50350800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:50348600-50348800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
20	chr12:50348600-50349000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
21	chr12:50348600-50349000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:50348800-50349000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
23	chr12:50348800-50349000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
24	chr12:50348800-50349000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
25	chr12:50348800-50349000	Bivalent Enhancer	Fetal Kidney	kidney
26	chr12:50348800-50349200	Bivalent Enhancer	Fetal Lung	lung
27	chr12:50348800-50349600	Bivalent Enhancer	Fetal Heart	heart
28	chr12:50348800-50349800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
29	chr12:50348800-50349800	Weak transcription	Hela-S3	cervix
30	chr12:50348800-50350200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
31	chr12:50348800-50350400	Bivalent Enhancer	Fetal Stomach	stomach
32	chr12:50348800-50350800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
33	chr12:50349000-50349200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:50349000-50349200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:50349000-50349200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:50349000-50349200	Bivalent Enhancer	NH-A	brain
37	chr12:50349000-50349400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
38	chr12:50349000-50349400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
39	chr12:50349000-50349400	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr12:50349000-50349400	Bivalent Enhancer	NHEK	skin
41	chr12:50349000-50349600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
42	chr12:50349000-50349600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr12:50349000-50349600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:50349000-50349600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:50349000-50349600	ZNF genes & repeats	Spleen	Spleen
46	chr12:50349000-50350000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
47	chr12:50349200-50349400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:50349200-50349400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
49	chr12:50349200-50349400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:50349200-50349400	Bivalent Enhancer	Brain Hippocampus Middle	brain

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