Variant report

Variant	esv3446919
Chromosome Location	chr18:12947052-12949000
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr18:12946150-12947080	K562	blood:	n/a	n/a
2	ARID3A	chr18:12948312-12948642	K562	blood:	n/a	n/a
3	ARID3A	chr18:12947993-12948608	HepG2	liver:	n/a	chr18:12948125-12948137
4	ARID3A	chr18:12946531-12947622	HepG2	liver:	n/a	n/a
5	ARID3A	chr18:12947384-12947594	K562	blood:	n/a	n/a
6	ATF2	chr18:12947922-12948646	GM12878	blood:	n/a	n/a
7	ATF3	chr18:12948302-12948685	HepG2	liver:	n/a	n/a
8	ATF3	chr18:12948241-12948654	H1-hESC	embryonic stem cell:	n/a	chr18:12948291-12948300
9	ATF3	chr18:12948268-12948564	K562	blood:	n/a	chr18:12948291-12948300
10	BACH1	chr18:12947410-12947576	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr18:12947894-12948853	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr18:12946796-12947165	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr18:12948261-12948388	K562	blood:	n/a	n/a
14	BCL3	chr18:12947895-12948496	GM12878	blood:	n/a	chr18:12948065-12948078 chr18:12948285-12948298 chr18:12948071-12948084 chr18:12948065-12948074 chr18:12948062-12948071 chr18:12948066-12948079
15	BCLAF1	chr18:12947969-12948734	K562	blood:	n/a	chr18:12948499-12948512 chr18:12948065-12948078 chr18:12948285-12948298 chr18:12948071-12948084 chr18:12948065-12948074 chr18:12948062-12948071 chr18:12948066-12948079
16	BCLAF1	chr18:12947917-12948737	GM12878	blood:	n/a	chr18:12948499-12948512 chr18:12948065-12948078 chr18:12948285-12948298 chr18:12948071-12948084 chr18:12948065-12948074 chr18:12948062-12948071 chr18:12948066-12948079
17	BCLAF1	chr18:12947888-12948845	GM12878	blood:	n/a	chr18:12948499-12948512 chr18:12948065-12948078 chr18:12948285-12948298 chr18:12948071-12948084 chr18:12948065-12948074 chr18:12948062-12948071 chr18:12948066-12948079
18	BHLHE40	chr18:12947947-12948776	GM12878	blood:	n/a	chr18:12948062-12948078 chr18:12948057-12948073 chr18:12948502-12948518 chr18:12948068-12948084 chr18:12948063-12948079
19	BHLHE40	chr18:12946873-12947649	HepG2	liver:	n/a	n/a
20	BHLHE40	chr18:12946972-12947672	GM12878	blood:	n/a	n/a
21	BHLHE40	chr18:12947915-12948696	K562	blood:	n/a	chr18:12948062-12948078 chr18:12948057-12948073 chr18:12948502-12948518 chr18:12948068-12948084 chr18:12948063-12948079
22	BHLHE40	chr18:12947938-12948774	HepG2	liver:	n/a	chr18:12948062-12948078 chr18:12948057-12948073 chr18:12948502-12948518 chr18:12948068-12948084 chr18:12948063-12948079
23	BHLHE40	chr18:12946884-12947689	K562	blood:	n/a	n/a
24	BRCA1	chr18:12947284-12947605	HepG2	liver:	n/a	n/a
25	BRCA1	chr18:12947470-12948551	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr18:12948115-12948264	GM12878	blood:	n/a	n/a
27	BRCA1	chr18:12946651-12947206	Hela-S3	cervix:	n/a	n/a
28	CBX3	chr18:12947269-12947729	K562	blood:	n/a	n/a
29	CBX3	chr18:12948334-12949331	K562	blood:	n/a	n/a
30	CBX3	chr18:12947870-12949096	K562	blood:	n/a	n/a
31	CCNT2	chr18:12946694-12948714	K562	blood:	n/a	n/a
32	CEBPB	chr18:12946636-12947065	MCF-7	breast:	n/a	chr18:12946774-12946785
33	CEBPB	chr18:12948550-12948622	K562	blood:	n/a	n/a
34	CEBPB	chr18:12946598-12947143	HepG2	liver:	n/a	chr18:12946774-12946785
35	CEBPB	chr18:12946631-12947139	ECC-1	luminal epithelium:	n/a	chr18:12946774-12946785
36	CEBPB	chr18:12947442-12947696	H1-hESC	embryonic stem cell:	n/a	n/a
37	CEBPB	chr18:12946629-12947143	IMR90	lung:	n/a	chr18:12946774-12946785
38	CEBPB	chr18:12948100-12948246	H1-hESC	embryonic stem cell:	n/a	n/a
39	CEBPB	chr18:12946617-12947200	ECC-1	luminal epithelium:	n/a	chr18:12946774-12946785
40	CEBPB	chr18:12947445-12947695	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr18:12946648-12947057	A549	lung:	n/a	chr18:12946774-12946785
42	CEBPB	chr18:12946610-12947075	A549	lung:	n/a	chr18:12946774-12946785
43	CEBPB	chr18:12946586-12947147	K562	blood:	n/a	chr18:12946774-12946785
44	CEBPB	chr18:12947995-12948643	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr18:12946574-12947172	Hela-S3	cervix:	n/a	chr18:12946774-12946785
46	CEBPB	chr18:12946546-12947193	K562	blood:	n/a	chr18:12946774-12946785
47	CEBPB	chr18:12946704-12947182	HepG2	liver:	n/a	chr18:12946774-12946785
48	CEBPB	chr18:12946627-12947151	HepG2	liver:	n/a	chr18:12946774-12946785
49	CEBPD	chr18:12947485-12947761	HepG2	liver:	n/a	n/a
50	CEBPD	chr18:12946558-12947168	K562	blood:	n/a	chr18:12946775-12946786 chr18:12946775-12946786

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:12947925-12947975	AG04449	skin:	fetal
2	chr18:12947925-12947975	AG04449	skin:	fetal
3	chr18:12948330-12948380	PANC-1	pancreas:	n/a
4	chr18:12947723-12947773	HUVEC	blood vessel:	n/a
5	chr18:12948235-12948285	ECC-1	luminal epithelium:	n/a
6	chr18:12948653-12948703	HNPCEpiC	eye:	n/a
7	chr18:12947066-12947116	HEEpiC	esophagus:	n/a
8	chr18:12947925-12947975	HMEC	breast:	n/a
9	chr18:12947930-12947980	SAEC	small airway:	n/a
10	chr18:12948653-12948703	CMK	blood:	n/a
11	chr18:12947517-12947567	SKMC	muscle:	n/a
12	chr18:12947925-12947975	HRCEpiC	kidney:	n/a
13	chr18:12947066-12947116	Caco-2	colon:	n/a
14	chr18:12948330-12948380	HCPEpiC	choroid plexus:	n/a
15	chr18:12947957-12948007	AoSMC	blood vessel:	n/a
16	chr18:12947723-12947773	IMR90	lung:	fetal
17	chr18:12947723-12947773	HCPEpiC	choroid plexus:	n/a
18	chr18:12947850-12947900	HRCEpiC	kidney:	n/a
19	chr18:12947850-12947900	K562	blood:	n/a
20	chr18:12947942-12947992	Jurkat	blood:	n/a
21	chr18:12947723-12947773	SK-N-MC	brain:	n/a
22	chr18:12947066-12947116	U87	brain:	n/a
23	chr18:12947723-12947773	BJ	skin:	n/a
24	chr18:12948780-12948830	SKMC	muscle:	n/a
25	chr18:12947850-12947900	ovcar-3	ovarian:	n/a
26	chr18:12948235-12948285	BE2_C	brain:	n/a
27	chr18:12948029-12948079	AG04449	skin:	fetal
28	chr18:12947723-12947773	PFSK-1	brain:	n/a
29	chr18:12947723-12947773	HRCEpiC	kidney:	n/a
30	chr18:12947723-12947773	HIPEpiC	eye:	n/a
31	chr18:12948653-12948703	Jurkat	blood:	n/a
32	chr18:12948653-12948703	GM12878	blood:	n/a
33	chr18:12947930-12947980	HCT-116	colon:	n/a
34	chr18:12947066-12947116	AG10803	skin:	n/a
35	chr18:12948023-12948073	HMEC	breast:	n/a
36	chr18:12948653-12948703	LNCaP	prostate:	n/a
37	chr18:12947925-12947975	HIPEpiC	eye:	n/a
38	chr18:12947632-12947682	HRE	kidney:	n/a
39	chr18:12948023-12948073	PFSK-1	brain:	n/a
40	chr18:12947957-12948007	GM12891	blood:	n/a
41	chr18:12947925-12947975	SK-N-SH	brain:	n/a
42	chr18:12947957-12948007	U87	brain:	n/a
43	chr18:12948029-12948079	HCT-116	colon:	n/a
44	chr18:12947930-12947980	AoSMC	blood vessel:	n/a
45	chr18:12947723-12947773	HEK293	kidney:	embryo
46	chr18:12947942-12947992	HIPEpiC	eye:	n/a
47	chr18:12947723-12947773	NHBE	bronchial:	n/a
48	chr18:12948330-12948380	ProgFib	skin:	n/a
49	chr18:12947066-12947116	ECC-1	luminal epithelium:	n/a
50	chr18:12947930-12947980	PFSK-1	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:12946986..12949410-chr18:12970714..12972312,2	MCF-7	breast:
2	chr18:12375798..12379149-chr18:12946624..12949226,4	MCF-7	breast:
3	chr18:12947032..12947845-chr19:10304947..10305817,2	Hela-S3	cervix:
4	chr18:12702796..12704703-chr18:12947568..12949253,2	MCF-7	breast:
5	chr18:12946715..12947712-chr20:44563153..44563778,2	Hela-S3	cervix:
6	chr14:69261056..69261660-chr18:12948036..12948571,2	HCT-116	colon:
7	chr18:12928157..12929851-chr18:12946775..12948725,2	K562	blood:
8	chr18:12944429..12952802-chr18:12987284..12998193,21	K562	blood:
9	chr18:12700812..12705381-chr18:12946243..12950219,9	K562	blood:
10	chr10:32345131..32345847-chr18:12947608..12948535,2	Hela-S3	cervix:
11	chr18:12946237..12948654-chr18:13006557..13008669,3	K562	blood:
12	chr10:111682824..111683750-chr18:12948009..12948802,2	HCT-116	colon:
13	chr18:12945719..12950670-chr18:12989123..12995651,19	K562	blood:
14	chr18:12948026..12948526-chr3:15900468..15901248,2	Hela-S3	cervix:
15	chr18:12947857..12948364-chr2:54342415..54343083,2	Hela-S3	cervix:
16	chr18:12726304..12729223-chr18:12948825..12951791,2	K562	blood:
17	chr18:12945869..12950267-chr18:12985686..12992743,10	MCF-7	breast:
18	chr18:12836738..12838821-chr18:12946925..12949352,2	K562	blood:
19	chr18:12701407..12705081-chr18:12945993..12949483,5	MCF-7	breast:
20	chr18:12880282..12884361-chr18:12946145..12949673,9	K562	blood:
21	chr12:120728799..120729572-chr18:12946484..12947077,2	Hela-S3	cervix:
22	chr18:12928762..12931382-chr18:12946071..12947896,2	MCF-7	breast:
23	chr18:12946771..12949148-chr18:13055556..13057689,2	K562	blood:
24	chr18:12948345..12951130-chr18:12969418..12973863,3	K562	blood:
25	chr18:12947543..12948398-chr18:45456615..45457403,2	Hela-S3	cervix:
26	chr18:12881395..12884200-chr18:12946697..12949759,6	MCF-7	breast:
27	chr18:12882771..12885367-chr18:12946819..12949664,2	MCF-7	breast:
28	chr18:12373949..12378992-chr18:12946352..12949410,8	K562	blood:
29	chr18:12700182..12704223-chr18:12944670..12949511,9	K562	blood:
30	chr18:12947622..12948398-chr6:30584786..30585619,2	Hela-S3	cervix:
31	chr18:12946883..12949783-chr18:12990489..12993346,5	MCF-7	breast:
32	chr17:74099568..74100367-chr18:12947471..12948143,2	HCT-116	colon:
33	chr18:12376943..12379295-chr18:12946308..12947818,2	K562	blood:
34	chr1:28974722..28975572-chr18:12946882..12947646,2	Hela-S3	cervix:
35	chr18:12880282..12885478-chr18:12946145..12950206,8	K562	blood:
36	chr1:31230208..31230808-chr18:12947690..12948690,2	NB4	blood:

Variant related genes	Relation type
SEH1L	TF binding region
SEH1L	CpG island
ENSG00000185650	chromatin interactions
ENSG00000085415	chromatin interactions
ENSG00000175354	chromatin interactions
ENSG00000170759	chromatin interactions
ENSG00000101624	chromatin interactions
ENSG00000182473	chromatin interactions
ENSG00000141385	chromatin interactions
ENSG00000266969	chromatin interactions
ENSG00000204569	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000162511	chromatin interactions
ENSG00000128789	chromatin interactions
ENSG00000108039	chromatin interactions
ENSG00000100982	chromatin interactions
ENSG00000206560	chromatin interactions
ENSG00000206660	chromatin interactions
ENSG00000175387	chromatin interactions
ENSG00000101639	chromatin interactions
ENSG00000130816	chromatin interactions
ENSG00000170634	chromatin interactions
ENSG00000204568	chromatin interactions

Extended variants
information (count: 88 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192084455	chr18:12947068-12947069	Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs531951057	chr18:12947091-12947092	Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs541075002	chr18:12947097-12947098	Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs149321051	chr18:12947120-12947121	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs180775460	chr18:12947137-12947138	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs536952257	chr18:12947180-12947181	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs372431736	chr18:12947181-12947182	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs73407750	chr18:12947196-12947197	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs550137253	chr18:12947200-12947201	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs12326946	chr18:12947225-12947226	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs28579212	chr18:12947276-12947277	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs530692378	chr18:12947333-12947334	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs3809911	chr18:12947360-12947361	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs570340793	chr18:12947368-12947369	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs77724135	chr18:12947376-12947377	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs546303452	chr18:12947426-12947427	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs568115038	chr18:12947442-12947443	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs144565252	chr18:12947456-12947457	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs3809912	chr18:12947462-12947463	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs3809913	chr18:12947483-12947484	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs537732009	chr18:12947505-12947506	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs559165389	chr18:12947509-12947510	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
23	rs577469497	chr18:12947538-12947539	Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
24	rs578095449	chr18:12947555-12947556	Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs57503635	chr18:12947556-12947557	Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs565405901	chr18:12947574-12947575	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs577908629	chr18:12947586-12947587	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
28	rs185484630	chr18:12947587-12947588	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
29	rs117651768	chr18:12947599-12947600	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs3809914	chr18:12947616-12947617	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs563135994	chr18:12947639-12947640	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
32	rs60383179	chr18:12947660-12947661	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
33	rs558857380	chr18:12947663-12947664	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
34	rs370377593	chr18:12947669-12947670	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
35	rs530656607	chr18:12947704-12947705	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
36	rs115625572	chr18:12947711-12947712	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
37	rs571544911	chr18:12947713-12947714	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
38	rs540720372	chr18:12947734-12947735	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
39	rs564379591	chr18:12947747-12947748	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
40	rs373829303	chr18:12947831-12947832	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
41	rs368771027	chr18:12947879-12947880	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
42	rs190201076	chr18:12947901-12947902	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
43	rs568091097	chr18:12947941-12947942	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
44	rs528995697	chr18:12948039-12948040	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
45	rs550737763	chr18:12948041-12948042	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
46	rs147277460	chr18:12948047-12948048	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
47	rs570881577	chr18:12948054-12948055	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
48	rs537594904	chr18:12948108-12948109	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
49	rs558905423	chr18:12948120-12948121	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
50	rs201848221	chr18:12948134-12948135	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:361 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12946200-12947200	Flanking Active TSS	Dnd41	blood
2	chr18:12946200-12947600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr18:12946200-12949000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr18:12946200-12949200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr18:12946200-12949400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr18:12946400-12947600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr18:12946400-12947600	Flanking Active TSS	Fetal Thymus	thymus
8	chr18:12946400-12948400	Active TSS	GM12878-XiMat	blood
9	chr18:12946400-12948400	Active TSS	HMEC	breast
10	chr18:12946400-12948800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr18:12946400-12948800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr18:12946400-12949000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr18:12946400-12949000	Active TSS	HSMMtube	muscle
14	chr18:12946400-12949200	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr18:12946400-12949200	Active TSS	K562	blood
16	chr18:12946400-12949400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr18:12946400-12949400	Active TSS	HSMM	muscle
18	chr18:12946600-12947200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
19	chr18:12946600-12947400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr18:12946600-12947400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr18:12946600-12947400	Flanking Active TSS	Fetal Muscle Leg	muscle
22	chr18:12946600-12947400	Flanking Active TSS	NH-A	brain
23	chr18:12946600-12947600	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr18:12946600-12947600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr18:12946600-12947600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr18:12946600-12947600	Flanking Active TSS	HUVEC	blood vessel
27	chr18:12946600-12947600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr18:12946600-12948400	Active TSS	Muscle Satellite Cultured Cells	--
29	chr18:12946600-12948400	Active TSS	NHLF	lung
30	chr18:12946600-12948600	Active TSS	Fetal Intestine Large	intestine
31	chr18:12946600-12948600	Active TSS	Right Ventricle	heart
32	chr18:12946600-12948600	Active TSS	Hela-S3	cervix
33	chr18:12946600-12948600	Active TSS	HepG2	liver
34	chr18:12946600-12948600	Active TSS	NHDF-Ad	bronchial
35	chr18:12946600-12948800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr18:12946600-12948800	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr18:12946600-12948800	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr18:12946600-12949000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr18:12946600-12949000	Active TSS	H1 Cell Line	embryonic stem cell
40	chr18:12946600-12949000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr18:12946600-12949000	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr18:12946600-12949000	Active TSS	A549	lung
43	chr18:12946600-12949200	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr18:12946600-12949200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr18:12946600-12949200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr18:12946600-12949400	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr18:12946600-12949400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr18:12946800-12947200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
49	chr18:12946800-12947200	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr18:12946800-12947200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links