Variant report

Variant	esv1819372
Chromosome Location	chr18:44774673-44799515
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:495)
CpG islands
(count:1587)
Chromatin interactive
region (count:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:495 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr18:44777730-44778344	H1-hESC	embryonic stem cell:	n/a	chr18:44778070-44778084 chr18:44778072-44778083
2	ATF2	chr18:44777843-44778295	H1-hESC	embryonic stem cell:	n/a	chr18:44778070-44778084 chr18:44778072-44778083
3	BACH1	chr18:44775313-44775375	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr18:44780932-44781270	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr18:44779792-44779941	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr18:44774919-44775077	H1-hESC	embryonic stem cell:	n/a	n/a
7	BRCA1	chr18:44789785-44789808	H1-hESC	embryonic stem cell:	n/a	n/a
8	BRCA1	chr18:44786740-44786945	H1-hESC	embryonic stem cell:	n/a	n/a
9	BRCA1	chr18:44777974-44778152	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr18:44790009-44790081	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr18:44786507-44786999	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr18:44777890-44778108	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr18:44780830-44781199	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD1	chr18:44790164-44790405	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr18:44782989-44783003	GM12878	blood:	n/a	n/a
16	CHD2	chr18:44775170-44775530	H1-hESC	embryonic stem cell:	n/a	n/a
17	CREB1	chr18:44786718-44787104	H1-hESC	embryonic stem cell:	n/a	n/a
18	CREB1	chr18:44781037-44781363	H1-hESC	embryonic stem cell:	n/a	n/a
19	CREB1	chr18:44786680-44787148	H1-hESC	embryonic stem cell:	n/a	n/a
20	CREB1	chr18:44777727-44778339	H1-hESC	embryonic stem cell:	n/a	chr18:44778071-44778084
21	CREB1	chr18:44777788-44778315	H1-hESC	embryonic stem cell:	n/a	chr18:44778071-44778084
22	CTBP2	chr18:44777625-44778343	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTBP2	chr18:44780860-44781331	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTBP2	chr18:44774693-44775689	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTBP2	chr18:44786631-44786998	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTBP2	chr18:44787697-44790840	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr18:44789780-44789930	AG09309	skin:	n/a	n/a
28	CTCF	chr18:44787700-44787850	GM12864	blood:	n/a	chr18:44787794-44787812 chr18:44787795-44787811
29	CTCF	chr18:44789760-44789910	AG04449	skin:	n/a	n/a
30	CTCF	chr18:44789720-44789870	RPTEC	kidney:	n/a	n/a
31	CTCF	chr18:44789822-44789828	GM13977	blood:	n/a	n/a
32	CTCF	chr18:44787714-44787871	SK-N-SH_RA	brain:	n/a	chr18:44787794-44787812 chr18:44787795-44787811
33	CTCF	chr18:44789720-44789870	AG09319	gingival:	n/a	n/a
34	CTCF	chr18:44787720-44787870	GM12865	blood:	n/a	chr18:44787794-44787812 chr18:44787795-44787811
35	CTCF	chr18:44789720-44789870	HPAF	blood vessel:	n/a	n/a
36	CTCF	chr18:44789738-44789918	K562	blood:	n/a	n/a
37	CTCF	chr18:44778060-44778210	WERI-Rb-1	eye:	n/a	n/a
38	CTCF	chr18:44787732-44787855	Fibrobl	skin:	n/a	chr18:44787794-44787812 chr18:44787795-44787811
39	CTCF	chr18:44789700-44789850	GM12874	blood:	n/a	n/a
40	CTCF	chr18:44789765-44789864	GM12891	blood:	n/a	n/a
41	CTCF	chr18:44789741-44789929	A549	lung:	n/a	n/a
42	CTCF	chr18:44789728-44789915	K562	blood:	n/a	n/a
43	CTCF	chr18:44787720-44787870	BE2_C	brain:	n/a	chr18:44787794-44787812 chr18:44787795-44787811
44	CTCF	chr18:44789800-44789950	GM12874	blood:	n/a	n/a
45	CTCF	chr18:44788020-44788170	SK-N-SH_RA	brain:	n/a	chr18:44788066-44788079
46	CTCF	chr18:44787680-44787830	HUVEC	blood vessel:	n/a	chr18:44787794-44787812 chr18:44787795-44787811
47	CTCF	chr18:44789740-44789890	HMF	breast:	n/a	n/a
48	CTCF	chr18:44789781-44789883	GM19240	blood:	n/a	n/a
49	CTCF	chr18:44786892-44786975	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr18:44790460-44790610	WERI-Rb-1	eye:	n/a	n/a

(count:1587 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:44787492-44787542	HPAEpiC	pulmonary alveolar:	n/a
2	chr18:44787492-44787542	HPAEpiC	pulmonary alveolar:	n/a
3	chr18:44787585-44787635	HCF	heart:	n/a
4	chr18:44778083-44778133	Hepatocyte	liver:	n/a
5	chr18:44786426-44786476	IMR90	lung:	fetal
6	chr18:44775576-44775626	NHBE	bronchial:	n/a
7	chr18:44777799-44777849	GM12878	blood:	n/a
8	chr18:44790141-44790191	A549	lung:	n/a
9	chr18:44776850-44776900	GM06990	blood:	n/a
10	chr18:44790141-44790191	BJ	skin:	n/a
11	chr18:44786426-44786476	ProgFib	skin:	n/a
12	chr18:44778021-44778071	HUVEC	blood vessel:	n/a
13	chr18:44790141-44790191	SK-N-SH	brain:	n/a
14	chr18:44787728-44787778	HCPEpiC	choroid plexus:	n/a
15	chr18:44775009-44775059	HRCEpiC	kidney:	n/a
16	chr18:44778083-44778133	HL-60	blood:	n/a
17	chr18:44777799-44777849	AG10803	skin:	n/a
18	chr18:44776850-44776900	HEEpiC	esophagus:	n/a
19	chr18:44788898-44788948	GM19239	blood:	n/a
20	chr18:44777799-44777849	T-47D	breast:	n/a
21	chr18:44790141-44790191	NH-A	brain:	n/a
22	chr18:44775576-44775626	MCF-7	breast:	n/a
23	chr18:44776850-44776900	GM19239	blood:	n/a
24	chr18:44778236-44778286	NHDF-neo	bronchial:	n/a
25	chr18:44785758-44785808	GM12891	blood:	n/a
26	chr18:44781237-44781287	PFSK-1	brain:	n/a
27	chr18:44775009-44775059	K562	blood:	n/a
28	chr18:44790841-44790891	AG09319	gingival:	n/a
29	chr18:44778083-44778133	AG09319	gingival:	n/a
30	chr18:44778083-44778133	HNPCEpiC	eye:	n/a
31	chr18:44786886-44786936	RPTEC	kidney:	n/a
32	chr18:44785758-44785808	Caco-2	colon:	n/a
33	chr18:44786426-44786476	Hepatocyte	liver:	n/a
34	chr18:44777736-44777786	HEK293	kidney:	embryo
35	chr18:44787585-44787635	PFSK-1	brain:	n/a
36	chr18:44790841-44790891	HIPEpiC	eye:	n/a
37	chr18:44775009-44775059	U87	brain:	n/a
38	chr18:44778083-44778133	BE2_C	brain:	n/a
39	chr18:44775413-44775463	NHDF-neo	bronchial:	n/a
40	chr18:44778083-44778133	HEK293	kidney:	embryo
41	chr18:44778021-44778071	AG04450	lung:	fetal
42	chr18:44775413-44775463	PFSK-1	brain:	n/a
43	chr18:44784846-44784896	SK-N-MC	brain:	n/a
44	chr18:44785758-44785808	HEEpiC	esophagus:	n/a
45	chr18:44786426-44786476	RPTEC	kidney:	n/a
46	chr18:44774923-44774973	HPAEpiC	pulmonary alveolar:	n/a
47	chr18:44774923-44774973	Jurkat	blood:	n/a
48	chr18:44777736-44777786	GM06990	blood:	n/a
49	chr18:44778021-44778071	HNPCEpiC	eye:	n/a
50	chr18:44786426-44786476	HPAEpiC	pulmonary alveolar:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:44623688..44626651-chr18:44786266..44788433,2	K562	blood:
2	chr18:44779645..44782742-chr18:44785627..44788634,4	MCF-7	breast:
3	chr18:44779645..44782742-chr18:44785627..44788634,4	MCF-7	breast:
4	chr18:44774382..44776213-chr18:44776745..44778357,2	K562	blood:
5	chr18:44778191..44780835-chr18:44785049..44787814,3	K562	blood:
6	chr18:44778191..44780835-chr18:44785176..44787814,2	K562	blood:
7	chr18:44778191..44780835-chr18:44785049..44787814,3	K562	blood:
8	chr18:44624367..44626651-chr18:44785801..44788433,2	K562	blood:
9	chr18:44778191..44780835-chr18:44785176..44787814,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SKOR2-1	chr18:44775960-44776161	l_1576_chr18:44775959-44801844_lung

No data

Variant related genes	Relation type
SKOR2	TF binding region
SKOR2	CpG island
ENSG00000215474	chromatin interactions

Extended variants
information (count: 872 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:872 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111300606	chr18:44774674-44774675	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538819920	chr18:44774688-44774689	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558842471	chr18:44774715-44774716	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572355272	chr18:44774813-44774814	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188936589	chr18:44774842-44774843	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373929593	chr18:44774853-44774854	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539853928	chr18:44774971-44774972	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561108578	chr18:44775019-44775020	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs202063106	chr18:44775028-44775029	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553394854	chr18:44775093-44775094	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573556023	chr18:44775112-44775113	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542738210	chr18:44775117-44775118	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376365161	chr18:44775124-44775125	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562428417	chr18:44775173-44775174	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531550684	chr18:44775183-44775184	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371202595	chr18:44775210-44775211	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549741504	chr18:44775219-44775220	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574685057	chr18:44775244-44775245	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545196247	chr18:44775361-44775362	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565183201	chr18:44775390-44775391	Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527623475	chr18:44775421-44775422	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs542732248	chr18:44775422-44775423	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs547709375	chr18:44775423-44775424	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs567677759	chr18:44775466-44775467	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs376817644	chr18:44775498-44775499	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs530026226	chr18:44775523-44775524	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs550260759	chr18:44775570-44775571	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs75440550	chr18:44775571-44775572	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs181508916	chr18:44775572-44775573	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs141813697	chr18:44775650-44775651	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs186333451	chr18:44775690-44775691	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs535034255	chr18:44775691-44775692	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs554823760	chr18:44775714-44775715	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs573616673	chr18:44775763-44775764	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs372176880	chr18:44775764-44775765	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs573388364	chr18:44775829-44775830	Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs189614084	chr18:44775893-44775894	Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs2668771	chr18:44775897-44775898	Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs576009305	chr18:44775925-44775926	Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs545114277	chr18:44775936-44775937	Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs150480380	chr18:44775988-44775989	Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs527460607	chr18:44776036-44776037	Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs138297988	chr18:44776037-44776038	Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs547392340	chr18:44776070-44776071	Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs78085361	chr18:44776071-44776072	Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs530126277	chr18:44776105-44776106	Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs113903012	chr18:44776114-44776115	Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs563811004	chr18:44776126-44776127	Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs532512030	chr18:44776133-44776134	Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs61401225	chr18:44776189-44776190	Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Colorectal cancer	21297112	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	19150955	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16912164	CNVD
Lung cancer	18438408	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21508638	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16461302	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Pilomyxoid astrocytoma	17436254	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
Burkitt''s lymphoma	18698080	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17160897	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	16891809	CNVD
Idiopathic thrombocytopenic purpura	19566914	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16774939	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Lung cancer	21569311	CNVD
Prostate cancer	22341455	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-syndromic sensorineural hearing loss	22297974	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:470 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44772800-44775400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr18:44773200-44774800	Bivalent Enhancer	Lung	lung
3	chr18:44773400-44774800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
4	chr18:44773600-44775000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr18:44773800-44774800	Enhancers	Liver	Liver
6	chr18:44774200-44774800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr18:44774200-44774800	Weak transcription	Pancreas	Pancrea
8	chr18:44774200-44775000	Bivalent Enhancer	Right Ventricle	heart
9	chr18:44774400-44774800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr18:44774400-44774800	Weak transcription	Gastric	stomach
11	chr18:44774600-44774800	Bivalent/Poised TSS	Psoas Muscle	Psoas
12	chr18:44774600-44775200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr18:44774800-44775000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
14	chr18:44774800-44775000	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr18:44774800-44775000	Bivalent Enhancer	Liver	Liver
16	chr18:44774800-44775000	Bivalent Enhancer	Fetal Brain Female	brain
17	chr18:44774800-44775000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr18:44774800-44775200	Bivalent Enhancer	Spleen	Spleen
19	chr18:44774800-44775400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr18:44774800-44775400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
21	chr18:44774800-44775400	Enhancers	Gastric	stomach
22	chr18:44774800-44775600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr18:44774800-44775600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr18:44774800-44775600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
25	chr18:44774800-44775600	ZNF genes & repeats	Pancreas	Pancrea
26	chr18:44775000-44775200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr18:44775000-44775200	Bivalent Enhancer	Adipose Nuclei	Adipose
28	chr18:44775000-44775200	Bivalent Enhancer	Fetal Stomach	stomach
29	chr18:44775000-44775200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
30	chr18:44775000-44775600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
31	chr18:44775000-44775800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
32	chr18:44775200-44775400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr18:44775200-44775600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr18:44775400-44775600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
35	chr18:44775400-44775600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
36	chr18:44775400-44775600	Bivalent Enhancer	Brain Germinal Matrix	brain
37	chr18:44775400-44775600	Bivalent Enhancer	Left Ventricle	heart
38	chr18:44775400-44775600	Bivalent Enhancer	Right Atrium	heart
39	chr18:44775600-44775800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
40	chr18:44775600-44775800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
41	chr18:44775600-44775800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
42	chr18:44775600-44775800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
43	chr18:44775600-44777600	Weak transcription	Pancreas	Pancrea
44	chr18:44775800-44776200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
45	chr18:44775800-44776200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
46	chr18:44776400-44776800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
47	chr18:44776400-44778200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
48	chr18:44776600-44777600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
49	chr18:44776600-44777600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
50	chr18:44776800-44777000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links