Variant report

Variant	esv3384119
Chromosome Location	chr18:28679654-28682652
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:432)
CpG islands
(count:427)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:432 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr18:28681172-28681372	K562	blood:	n/a	n/a
2	ARID3A	chr18:28681381-28681402	HepG2	liver:	n/a	n/a
3	ARID3A	chr18:28682324-28682635	HepG2	liver:	n/a	n/a
4	ARID3A	chr18:28682320-28682542	K562	blood:	n/a	n/a
5	ARID3A	chr18:28681767-28681934	HepG2	liver:	n/a	n/a
6	BHLHE40	chr18:28679783-28680484	K562	blood:	n/a	n/a
7	BHLHE40	chr18:28681020-28681939	HepG2	liver:	n/a	n/a
8	BHLHE40	chr18:28680962-28681342	GM12878	blood:	n/a	n/a
9	BHLHE40	chr18:28680791-28682761	K562	blood:	n/a	chr18:28682426-28682442 chr18:28682001-28682017
10	BRCA1	chr18:28682353-28682554	HepG2	liver:	n/a	n/a
11	BRCA1	chr18:28680858-28681012	H1-hESC	embryonic stem cell:	n/a	n/a
12	CBX3	chr18:28681094-28681435	K562	blood:	n/a	n/a
13	CCNT2	chr18:28680912-28683139	K562	blood:	n/a	chr18:28681229-28681238 chr18:28681714-28681723
14	CCNT2	chr18:28679833-28679937	K562	blood:	n/a	n/a
15	CEBPD	chr18:28682221-28682558	HepG2	liver:	n/a	n/a
16	CHD1	chr18:28681716-28682646	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chr18:28680788-28681890	HepG2	liver:	n/a	n/a
18	CHD2	chr18:28682331-28682750	K562	blood:	n/a	n/a
19	CHD2	chr18:28682337-28682683	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD2	chr18:28682200-28682584	HepG2	liver:	n/a	n/a
21	CHD2	chr18:28681599-28682132	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr18:28681112-28681874	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr18:28680834-28681390	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD2	chr18:28680604-28682111	K562	blood:	n/a	n/a
25	CREB1	chr18:28681049-28682684	HepG2	liver:	n/a	n/a
26	CTBP2	chr18:28680822-28682606	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr18:28681777-28681966	GM19238	blood:	n/a	n/a
28	CTCF	chr18:28681740-28681890	GM12873	blood:	n/a	n/a
29	CTCF	chr18:28681660-28681810	GM12868	blood:	n/a	n/a
30	CTCF	chr18:28681800-28681950	Caco-2	colon:	n/a	n/a
31	CTCF	chr18:28681802-28681961	GM13977	blood:	n/a	n/a
32	CTCF	chr18:28681760-28681992	A549	lung:	n/a	n/a
33	CTCF	chr18:28681724-28682127	K562	blood:	n/a	n/a
34	CTCF	chr18:28681835-28681848	LNCaP	prostate:	n/a	n/a
35	CTCF	chr18:28681860-28682010	RPTEC	kidney:	n/a	n/a
36	CTCF	chr18:28681770-28681987	A549	lung:	n/a	n/a
37	CTCF	chr18:28681800-28681950	SAEC	small airway:	n/a	n/a
38	CTCF	chr18:28681308-28681338	GM13976	blood:	n/a	n/a
39	CTCF	chr18:28681860-28682010	NHEK	skin:	n/a	n/a
40	CTCF	chr18:28681820-28681970	HCT-116	colon:	n/a	n/a
41	CTCF	chr18:28681780-28681930	HBMEC	blood vessel:	n/a	n/a
42	CTCF	chr18:28681780-28681930	HRPEpiC	eye:	n/a	n/a
43	CTCF	chr18:28681800-28681950	HEK293	kidney:	n/a	n/a
44	CTCF	chr18:28681840-28681990	MCF-7	breast:	n/a	n/a
45	CTCF	chr18:28681820-28681970	RPTEC	kidney:	n/a	n/a
46	CTCF	chr18:28681825-28681937	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr18:28681781-28681953	MCF-7	breast:	n/a	n/a
48	CTCF	chr18:28681760-28681910	HepG2	liver:	n/a	n/a
49	CTCF	chr18:28681800-28681950	GM12871	blood:	n/a	n/a
50	CTCF	chr18:28682490-28682673	K562	blood:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:28682229-28682279	HepG2	liver:	n/a
2	chr18:28681121-28681171	NHBE	bronchial:	n/a
3	chr18:28682345-28682395	Hela-S3	cervix:	n/a
4	chr18:28682497-28682547	Jurkat	blood:	n/a
5	chr18:28682229-28682279	HIPEpiC	eye:	n/a
6	chr18:28681689-28681739	CMK	blood:	n/a
7	chr18:28681689-28681739	A549	lung:	n/a
8	chr18:28682497-28682547	HRPEpiC	eye:	n/a
9	chr18:28682408-28682458	T-47D	breast:	n/a
10	chr18:28682229-28682279	GM12878	blood:	n/a
11	chr18:28681121-28681171	AG04450	lung:	fetal
12	chr18:28681121-28681171	Hepatocyte	liver:	n/a
13	chr18:28682345-28682395	H1-hESC	embryonic stem cell:	embryo
14	chr18:28681962-28682012	HNPCEpiC	eye:	n/a
15	chr18:28681689-28681739	Caco-2	colon:	n/a
16	chr18:28682497-28682547	NB4	blood:	n/a
17	chr18:28681962-28682012	RPTEC	kidney:	n/a
18	chr18:28681962-28682012	SKMC	muscle:	n/a
19	chr18:28682408-28682458	RPTEC	kidney:	n/a
20	chr18:28681121-28681171	BE2_C	brain:	n/a
21	chr18:28682229-28682279	Hela-S3	cervix:	n/a
22	chr18:28682497-28682547	Hepatocyte	liver:	n/a
23	chr18:28681689-28681739	LNCaP	prostate:	n/a
24	chr18:28682497-28682547	K562	blood:	n/a
25	chr18:28682229-28682279	NB4	blood:	n/a
26	chr18:28682229-28682279	Caco-2	colon:	n/a
27	chr18:28682229-28682279	GM19239	blood:	n/a
28	chr18:28682345-28682395	HCPEpiC	choroid plexus:	n/a
29	chr18:28682345-28682395	SAEC	small airway:	n/a
30	chr18:28682345-28682395	SK-N-SH	brain:	n/a
31	chr18:28682408-28682458	HEEpiC	esophagus:	n/a
32	chr18:28681121-28681171	AG04449	skin:	fetal
33	chr18:28682408-28682458	SK-N-MC	brain:	n/a
34	chr18:28682229-28682279	RPTEC	kidney:	n/a
35	chr18:28682229-28682279	GM06990	blood:	n/a
36	chr18:28682229-28682279	GM12892	blood:	n/a
37	chr18:28682497-28682547	ovcar-3	ovarian:	n/a
38	chr18:28682497-28682547	HCPEpiC	choroid plexus:	n/a
39	chr18:28681689-28681739	HCT-116	colon:	n/a
40	chr18:28681121-28681171	HUVEC	blood vessel:	n/a
41	chr18:28682229-28682279	PANC-1	pancreas:	n/a
42	chr18:28682345-28682395	HRPEpiC	eye:	n/a
43	chr18:28682497-28682547	HCF	heart:	n/a
44	chr18:28682345-28682395	HMEC	breast:	n/a
45	chr18:28682408-28682458	PFSK-1	brain:	n/a
46	chr18:28682345-28682395	AG04449	skin:	fetal
47	chr18:28681121-28681171	LNCaP	prostate:	n/a
48	chr18:28682497-28682547	T-47D	breast:	n/a
49	chr18:28682229-28682279	HCM	heart:	n/a
50	chr18:28682408-28682458	HRPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr18:28678241..28681068-chr18:28692831..28695270,2	K562	blood:
2	chr18:28663717..28665312-chr18:28679601..28681471,2	K562	blood:
3	chr18:28652105..28654902-chr18:28682018..28683959,2	K562	blood:
4	chr18:28680816..28682711-chr18:29076315..29078384,2	K562	blood:
5	chr11:65265695..65267786-chr18:28681110..28682846,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DSG1-2	chr18:28681551-28681686	ENSG00000265888.1

No data

Variant related genes	Relation type
ENSG00000265888	TF binding region
DSC2	TF binding region
ENSG00000265888	CpG island
DSC2	CpG island
ENSG00000270117	chromatin interactions
ENSG00000266521	chromatin interactions
ENSG00000251562	chromatin interactions
ENSG00000046604	chromatin interactions
ENSG00000238376	chromatin interactions

Extended variants
information (count: 103 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539254539	chr18:28679761-28679762	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs534546125	chr18:28679809-28679810	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs190091627	chr18:28679843-28679844	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs559195051	chr18:28679913-28679914	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs115225882	chr18:28679947-28679948	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs538414983	chr18:28680057-28680058	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs556008868	chr18:28680059-28680060	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs139270566	chr18:28680099-28680100	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs541437031	chr18:28680163-28680164	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs76222235	chr18:28680196-28680197	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs373250046	chr18:28680239-28680240	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs1550236	chr18:28680241-28680242	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs545817176	chr18:28680242-28680243	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs183029543	chr18:28680350-28680351	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs115947919	chr18:28680364-28680365	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs1658125	chr18:28680371-28680372	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs549918384	chr18:28680384-28680385	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs562986124	chr18:28680414-28680415	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs530176678	chr18:28680415-28680416	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs370502534	chr18:28680418-28680419	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs548699372	chr18:28680454-28680455	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs541394734	chr18:28680479-28680480	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs370386827	chr18:28680480-28680481	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs187314689	chr18:28680488-28680489	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs534184052	chr18:28680523-28680524	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs552624739	chr18:28680606-28680607	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs193282562	chr18:28680623-28680624	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs538072889	chr18:28680651-28680652	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs536899821	chr18:28680705-28680706	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs556301569	chr18:28680722-28680723	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs554614397	chr18:28680743-28680744	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs574200816	chr18:28680750-28680751	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs535217714	chr18:28680806-28680807	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs553438219	chr18:28680827-28680828	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs201399183	chr18:28680845-28680846	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs571741280	chr18:28680877-28680878	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs545761165	chr18:28680922-28680923	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs72924514	chr18:28680924-28680925	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs576251273	chr18:28680926-28680927	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs537931569	chr18:28681048-28681049	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs543261707	chr18:28681052-28681053	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs539844995	chr18:28681054-28681055	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs7241780	chr18:28681062-28681063	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs542378714	chr18:28681131-28681132	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs560547205	chr18:28681144-28681145	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs538839907	chr18:28681169-28681170	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs35859970	chr18:28681183-28681184	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs73415516	chr18:28681195-28681196	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs552511999	chr18:28681252-28681253	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs571070943	chr18:28681255-28681256	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Esophageal squamous carcinoma	18350619	CNVD
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
Glioblastoma multiforme	21922591	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
Lung cancer	18438408	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
Hepatocellular carcinoma	16750200	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
Breast cancer	17133270	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	17002787	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	21811587	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:358 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28640800-28680400	Weak transcription	Right Ventricle	heart
2	chr18:28642800-28680600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr18:28649200-28680800	Weak transcription	Gastric	stomach
4	chr18:28652800-28679800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr18:28654200-28679800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr18:28654200-28679800	Weak transcription	Lung	lung
7	chr18:28654200-28679800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr18:28656600-28680200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr18:28660800-28679800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr18:28660800-28679800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr18:28666800-28679800	Weak transcription	Esophagus	oesophagus
12	chr18:28669600-28680000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr18:28672000-28680200	Weak transcription	Brain Anterior Caudate	brain
14	chr18:28672600-28679800	Weak transcription	Placenta	Placenta
15	chr18:28672800-28680000	Weak transcription	Liver	Liver
16	chr18:28673400-28679800	Weak transcription	Left Ventricle	heart
17	chr18:28673600-28679800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr18:28673600-28679800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr18:28674200-28679800	Weak transcription	Right Atrium	heart
20	chr18:28675400-28679800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr18:28675400-28679800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr18:28676200-28679800	Enhancers	Fetal Intestine Large	intestine
23	chr18:28676600-28679800	Weak transcription	Pancreas	Pancrea
24	chr18:28676600-28679800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr18:28676600-28680400	Weak transcription	Stomach Mucosa	stomach
26	chr18:28678600-28679800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr18:28678600-28679800	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr18:28678600-28680200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr18:28678800-28679800	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr18:28678800-28679800	Enhancers	HepG2	liver
31	chr18:28678800-28679800	Enhancers	HMEC	breast
32	chr18:28678800-28680600	Enhancers	Brain Substantia Nigra	brain
33	chr18:28678800-28682400	Active TSS	Duodenum Mucosa	Duodenum
34	chr18:28679000-28679800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr18:28679000-28679800	Enhancers	NHEK	skin
36	chr18:28679000-28680400	Enhancers	Fetal Heart	heart
37	chr18:28679000-28680400	Flanking Active TSS	K562	blood
38	chr18:28679200-28679800	Active TSS	Fetal Intestine Small	intestine
39	chr18:28679200-28682800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr18:28679400-28679800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr18:28679400-28679800	Enhancers	Colonic Mucosa	Colon
42	chr18:28679400-28680400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr18:28679600-28679800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr18:28679600-28679800	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr18:28679600-28679800	Enhancers	Adipose Nuclei	Adipose
46	chr18:28679600-28680000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr18:28679600-28680000	Enhancers	H1 Cell Line	embryonic stem cell
48	chr18:28679600-28680000	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr18:28679600-28680000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr18:28679600-28680000	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links