Variant report

Variant	esv1791969
Chromosome Location	chr18:12643193-12697711
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1088)
CpG islands
(count:855)
Chromatin interactive
region (count:68)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1088 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr18:12656801-12656872	HepG2	liver:	n/a	n/a
2	ARID3A	chr18:12658846-12659073	HepG2	liver:	n/a	n/a
3	ARID3A	chr18:12672730-12672742	K562	blood:	n/a	n/a
4	ARID3A	chr18:12652724-12653356	K562	blood:	n/a	n/a
5	BACH1	chr18:12672683-12672881	K562	blood:	n/a	n/a
6	BACH1	chr18:12658233-12658814	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr18:12656956-12658031	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr18:12656832-12657146	K562	blood:	n/a	n/a
9	BATF	chr18:12693982-12694304	GM12878	blood:	n/a	n/a
10	BATF	chr18:12693986-12694290	GM12878	blood:	n/a	n/a
11	BCLAF1	chr18:12659890-12660151	GM12878	blood:	n/a	n/a
12	BHLHE40	chr18:12657711-12657720	HepG2	liver:	n/a	n/a
13	BHLHE40	chr18:12658128-12658361	K562	blood:	n/a	n/a
14	BHLHE40	chr18:12645837-12646036	K562	blood:	n/a	n/a
15	BHLHE40	chr18:12656971-12657245	K562	blood:	n/a	chr18:12657213-12657229
16	BHLHE40	chr18:12658112-12658339	GM12878	blood:	n/a	n/a
17	BHLHE40	chr18:12658019-12658356	HepG2	liver:	n/a	n/a
18	BHLHE40	chr18:12645853-12646053	HepG2	liver:	n/a	n/a
19	BHLHE40	chr18:12694329-12694334	GM12878	blood:	n/a	n/a
20	BRCA1	chr18:12656608-12656967	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr18:12657677-12657702	HepG2	liver:	n/a	n/a
22	CBX3	chr18:12656955-12657361	K562	blood:	n/a	n/a
23	CCNT2	chr18:12656952-12658330	K562	blood:	n/a	n/a
24	CCNT2	chr18:12658646-12658735	K562	blood:	n/a	n/a
25	CEBPB	chr18:12666350-12666670	H1-hESC	embryonic stem cell:	n/a	chr18:12666493-12666504
26	CEBPB	chr18:12666344-12666581	IMR90	lung:	n/a	chr18:12666493-12666504
27	CEBPB	chr18:12653806-12654027	IMR90	lung:	n/a	n/a
28	CEBPB	chr18:12686501-12686735	K562	blood:	n/a	chr18:12686667-12686678
29	CEBPB	chr18:12692262-12692466	HepG2	liver:	n/a	chr18:12692369-12692380 chr18:12692369-12692382 chr18:12692371-12692382 chr18:12692369-12692382 chr18:12692371-12692382
30	CEBPB	chr18:12653142-12653309	HepG2	liver:	n/a	n/a
31	CEBPB	chr18:12666353-12666685	K562	blood:	n/a	chr18:12666493-12666504
32	CEBPB	chr18:12658017-12658217	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr18:12686549-12686841	HepG2	liver:	n/a	chr18:12686667-12686678
34	CEBPB	chr18:12692252-12692560	HepG2	liver:	n/a	chr18:12692369-12692380 chr18:12692369-12692382 chr18:12692371-12692382 chr18:12692369-12692382 chr18:12692371-12692382
35	CEBPB	chr18:12666350-12666680	HepG2	liver:	n/a	chr18:12666493-12666504
36	CEBPB	chr18:12653806-12653977	K562	blood:	n/a	n/a
37	CEBPB	chr18:12656641-12657030	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr18:12652923-12653398	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr18:12656689-12656975	IMR90	lung:	n/a	n/a
40	CEBPB	chr18:12686563-12686763	A549	lung:	n/a	chr18:12686667-12686678
41	CEBPB	chr18:12656640-12656957	K562	blood:	n/a	n/a
42	CEBPB	chr18:12692218-12692555	HepG2	liver:	n/a	chr18:12692369-12692380 chr18:12692369-12692382 chr18:12692371-12692382 chr18:12692369-12692382 chr18:12692371-12692382
43	CEBPB	chr18:12692215-12692567	HepG2	liver:	n/a	chr18:12692369-12692380 chr18:12692369-12692382 chr18:12692371-12692382 chr18:12692369-12692382 chr18:12692371-12692382
44	CEBPB	chr18:12652976-12653400	IMR90	lung:	n/a	n/a
45	CEBPB	chr18:12666345-12666667	A549	lung:	n/a	chr18:12666493-12666504
46	CHD1	chr18:12656380-12659102	IMR90	lung:	n/a	n/a
47	CHD1	chr18:12691129-12691134	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD1	chr18:12659652-12660334	IMR90	lung:	n/a	n/a
49	CHD2	chr18:12658542-12658645	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD2	chr18:12657035-12658381	Hela-S3	cervix:	n/a	n/a

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:12659100-12659150	NT2-D1	testis:	n/a
2	chr18:12659100-12659150	NT2-D1	testis:	n/a
3	chr18:12659100-12659150	HNPCEpiC	eye:	n/a
4	chr18:12654742-12654792	H1-hESC	embryonic stem cell:	embryo
5	chr18:12659100-12659150	Caco-2	colon:	n/a
6	chr18:12654742-12654792	NT2-D1	testis:	n/a
7	chr18:12654742-12654792	GM06990	blood:	n/a
8	chr18:12672632-12672682	GM12891	blood:	n/a
9	chr18:12661496-12661546	HL-60	blood:	n/a
10	chr18:12672632-12672682	HMEC	breast:	n/a
11	chr18:12657749-12657799	GM06990	blood:	n/a
12	chr18:12658233-12658283	U87	brain:	n/a
13	chr18:12659100-12659150	LNCaP	prostate:	n/a
14	chr18:12657909-12657959	HCT-116	colon:	n/a
15	chr18:12656910-12656960	RPTEC	kidney:	n/a
16	chr18:12672632-12672682	ovcar-3	ovarian:	n/a
17	chr18:12657056-12657106	AG10803	skin:	n/a
18	chr18:12656824-12656874	SK-N-MC	brain:	n/a
19	chr18:12661496-12661546	NT2-D1	testis:	n/a
20	chr18:12657909-12657959	ProgFib	skin:	n/a
21	chr18:12657166-12657216	HRPEpiC	eye:	n/a
22	chr18:12657166-12657216	HCT-116	colon:	n/a
23	chr18:12661496-12661546	AoSMC	blood vessel:	n/a
24	chr18:12646025-12646075	MCF-7	breast:	n/a
25	chr18:12659100-12659150	K562	blood:	n/a
26	chr18:12657909-12657959	NT2-D1	testis:	n/a
27	chr18:12658233-12658283	HRPEpiC	eye:	n/a
28	chr18:12657909-12657959	SAEC	small airway:	n/a
29	chr18:12658233-12658283	PrEC	prostate:	n/a
30	chr18:12657749-12657799	HPAEpiC	pulmonary alveolar:	n/a
31	chr18:12656910-12656960	BJ	skin:	n/a
32	chr18:12672632-12672682	AG09309	skin:	n/a
33	chr18:12658644-12658694	H1-hESC	embryonic stem cell:	embryo
34	chr18:12657056-12657106	AG04449	skin:	fetal
35	chr18:12657692-12657742	SKMC	muscle:	n/a
36	chr18:12657166-12657216	LNCaP	prostate:	n/a
37	chr18:12658644-12658694	BJ	skin:	n/a
38	chr18:12657909-12657959	SK-N-SH	brain:	n/a
39	chr18:12672632-12672682	Caco-2	colon:	n/a
40	chr18:12657909-12657959	GM12878	blood:	n/a
41	chr18:12659100-12659150	BE2_C	brain:	n/a
42	chr18:12658233-12658283	SK-N-MC	brain:	n/a
43	chr18:12657909-12657959	Jurkat	blood:	n/a
44	chr18:12657166-12657216	H1-hESC	embryonic stem cell:	embryo
45	chr18:12646025-12646075	AG09319	gingival:	n/a
46	chr18:12654742-12654792	Jurkat	blood:	n/a
47	chr18:12658233-12658283	HCPEpiC	choroid plexus:	n/a
48	chr18:12657692-12657742	SK-N-SH	brain:	n/a
49	chr18:12657166-12657216	HPAEpiC	pulmonary alveolar:	n/a
50	chr18:12656824-12656874	ovcar-3	ovarian:	n/a

(count:68 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr18:12677577..12680065-chr18:12699898..12703044,3	K562	blood:
2	chr18:12372972..12377735-chr18:12656683..12660675,6	K562	blood:
3	chr18:12646496..12648953-chr18:12649691..12651231,2	K562	blood:
4	chr18:12685127..12688617-chr18:12697968..12702228,5	MCF-7	breast:
5	chr18:12648702..12654959-chr18:12655130..12658770,8	K562	blood:
6	chr18:12689483..12696263-chr18:12698961..12704404,9	MCF-7	breast:
7	chr18:12679696..12682391-chr18:12945216..12947910,2	K562	blood:
8	chr18:12643324..12646056-chr18:12656295..12659962,4	MCF-7	breast:
9	chr18:12271566..12272281-chr18:12659989..12660492,2	K562	blood:
10	chr18:12649857..12654959-chr18:12655130..12658770,11	K562	blood:
11	chr18:12672017..12674011-chr18:12701088..12702712,2	MCF-7	breast:
12	chr18:12688436..12691173-chr18:12695295..12696801,2	MCF-7	breast:
13	chr18:12307735..12310451-chr18:12655693..12658579,2	MCF-7	breast:
14	chr18:12674680..12677668-chr18:12679898..12682349,2	K562	blood:
15	chr18:12418519..12420831-chr18:12657213..12660140,3	MCF-7	breast:
16	chr18:12658848..12660471-chr18:12660520..12662160,2	MCF-7	breast:
17	chr18:12649857..12654959-chr18:12655130..12658770,11	K562	blood:
18	chr18:12674680..12677668-chr18:12679898..12682349,2	K562	blood:
19	chr18:12689725..12692648-chr18:12725870..12727791,2	K562	blood:
20	chr18:12478411..12479284-chr18:12659311..12660299,2	MCF-7	breast:
21	chr18:12418998..12421842-chr18:12658407..12660489,3	MCF-7	breast:
22	chr18:12675129..12676977-chr18:12701150..12703397,2	MCF-7	breast:
23	chr18:12684189..12686114-chr18:12711394..12713942,2	K562	blood:
24	chr18:12643422..12646156-chr18:12653146..12655533,3	MCF-7	breast:
25	chr18:12423062..12423996-chr18:12659741..12660319,3	MCF-7	breast:
26	chr18:12404079..12409500-chr18:12655702..12659746,9	K562	blood:
27	chr18:12685747..12686650-chr18:12934519..12935030,2	MCF-7	breast:
28	chr18:12646496..12648953-chr18:12649691..12651231,2	K562	blood:
29	chr18:12422525..12425509-chr18:12660961..12663016,2	MCF-7	breast:
30	chr18:12691365..12694682-chr18:12712502..12715865,4	K562	blood:
31	chr18:12374049..12378632-chr18:12655494..12660049,8	K562	blood:
32	chr18:12443233..12445110-chr18:12655911..12658418,2	MCF-7	breast:
33	chr18:12435991..12438957-chr18:12658317..12660163,2	MCF-7	breast:
34	chr18:12391424..12392321-chr18:12659300..12660519,6	K562	blood:
35	chr18:12639049..12640550-chr18:12644978..12647859,2	MCF-7	breast:
36	chr18:12651259..12653780-chr18:12656567..12658681,4	MCF-7	breast:
37	chr18:12643422..12646156-chr18:12653146..12655533,3	MCF-7	breast:
38	chr18:12658848..12660471-chr18:12660520..12662160,2	MCF-7	breast:
39	chr18:12656018..12659900-chr18:12701056..12705601,5	K562	blood:
40	chr18:12375564..12378929-chr18:12655169..12659722,7	MCF-7	breast:
41	chr18:12375835..12378198-chr18:12677932..12680535,3	K562	blood:
42	chr18:12651259..12653780-chr18:12656567..12658681,4	MCF-7	breast:
43	chr18:12394101..12395048-chr18:12659577..12660941,6	MCF-7	breast:
44	chr18:12680721..12683426-chr18:12689110..12690751,2	K562	blood:
45	chr18:12391478..12392229-chr18:12659562..12660272,2	MCF-7	breast:
46	chr18:12657085..12659648-chr18:12882376..12884207,2	K562	blood:
47	chr18:12696763..12699239-chr18:12701108..12704411,4	MCF-7	breast:
48	chr18:12671690..12675080-chr18:12702112..12705449,3	MCF-7	breast:
49	chr18:12649454..12651212-chr18:12654910..12658304,3	MCF-7	breast:
50	chr18:12656965..12658732-chr18:12666795..12668620,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CEP76-1	chr18:12670425-12671144	ENSG00000267249.1

No data

Variant related genes	Relation type
ENSG00000215527	TF binding region
PSMG2	TF binding region
SPIRE1	TF binding region
CEP76	TF binding region
ENSG00000267249	TF binding region
ENSG00000215527	CpG island
PSMG2	CpG island
SPIRE1	CpG island
CEP76	CpG island
ENSG00000267249	CpG island
ENSG00000197182	chromatin interactions
ENSG00000267199	chromatin interactions
ENSG00000124198	chromatin interactions
ENSG00000128789	chromatin interactions
ENSG00000175354	chromatin interactions
ENSG00000141385	chromatin interactions
ENSG00000141391	chromatin interactions
ENSG00000134278	chromatin interactions
ENSG00000215527	chromatin interactions
ENSG00000101624	chromatin interactions
ENSG00000085415	chromatin interactions
ENSG00000176014	chromatin interactions

Extended variants
information (count: 2080 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:2080 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1592643	chr18:12643193-12643194	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566879326	chr18:12643263-12643264	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs534234443	chr18:12643301-12643302	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs370393665	chr18:12643316-12643317	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs183258081	chr18:12643333-12643334	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs537622237	chr18:12643383-12643384	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs1592642	chr18:12643445-12643446	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs35506854	chr18:12643460-12643461	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs73951119	chr18:12643732-12643733	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs373221470	chr18:12643778-12643779	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs145911252	chr18:12643830-12643831	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs372011042	chr18:12643848-12643849	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs571703987	chr18:12643849-12643850	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs542254953	chr18:12643865-12643866	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs188083989	chr18:12643882-12643883	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs576113070	chr18:12643899-12643900	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs151277753	chr18:12643924-12643925	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs60538474	chr18:12644024-12644025	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs72419037	chr18:12644031-12644032	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs532524715	chr18:12644036-12644037	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs532779234	chr18:12644076-12644077	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs9951311	chr18:12644097-12644098	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs530306134	chr18:12644112-12644113	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs140482661	chr18:12644113-12644114	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs183564185	chr18:12644121-12644122	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs150422899	chr18:12644130-12644131	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs72091747	chr18:12644198-12644199	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs58693692	chr18:12644215-12644216	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs142773317	chr18:12644226-12644227	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs9963809	chr18:12644344-12644345	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs9973045	chr18:12644353-12644354	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs549428808	chr18:12644397-12644398	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs191766063	chr18:12644566-12644567	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs531848335	chr18:12644607-12644608	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs35643117	chr18:12644672-12644673	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs58011896	chr18:12644680-12644681	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs538491669	chr18:12644689-12644690	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs138168326	chr18:12644722-12644723	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs183292097	chr18:12644870-12644871	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs535823267	chr18:12644893-12644894	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs544198091	chr18:12644916-12644917	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs529905423	chr18:12644944-12644945	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs386801368	chr18:12644999-12645000	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs145188024	chr18:12645000-12645001	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs138990997	chr18:12645023-12645024	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs201298372	chr18:12645104-12645105	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs397794896	chr18:12645115-12645116	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs373103961	chr18:12645116-12645117	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs74457335	chr18:12645118-12645119	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs78350104	chr18:12645119-12645120	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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	20435627	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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:1968 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12607800-12651800	Weak transcription	Brain Germinal Matrix	brain
2	chr18:12616400-12644800	Weak transcription	Brain Hippocampus Middle	brain
3	chr18:12616600-12645200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr18:12621200-12645200	Weak transcription	Fetal Muscle Leg	muscle
5	chr18:12622800-12645000	Weak transcription	Brain Angular Gyrus	brain
6	chr18:12630400-12645400	Weak transcription	Ovary	ovary
7	chr18:12631000-12645200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr18:12631000-12645200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr18:12631200-12647800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr18:12631400-12645200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr18:12633600-12655800	Weak transcription	Fetal Stomach	stomach
12	chr18:12635000-12645800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr18:12635200-12645800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr18:12637800-12643400	Weak transcription	Psoas Muscle	Psoas
15	chr18:12637800-12645400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr18:12637800-12652000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr18:12638600-12643200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr18:12638800-12645000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr18:12638800-12645200	Weak transcription	Brain Anterior Caudate	brain
20	chr18:12639000-12644800	Weak transcription	Fetal Brain Female	brain
21	chr18:12639000-12645200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr18:12639600-12645800	Weak transcription	Esophagus	oesophagus
23	chr18:12640400-12652000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr18:12640800-12643200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr18:12640800-12645000	Weak transcription	Brain Substantia Nigra	brain
26	chr18:12641000-12644000	Weak transcription	Fetal Brain Male	brain
27	chr18:12641000-12644800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr18:12641000-12645200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr18:12641000-12645200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr18:12641000-12645200	Weak transcription	Pancreas	Pancrea
31	chr18:12641000-12645400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr18:12641000-12645400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr18:12641000-12645800	Weak transcription	K562	blood
34	chr18:12641000-12646000	Weak transcription	Right Ventricle	heart
35	chr18:12641000-12648200	Weak transcription	Hela-S3	cervix
36	chr18:12641200-12643200	Weak transcription	HSMMtube	muscle
37	chr18:12641200-12643400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr18:12641200-12643400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr18:12641200-12643400	Weak transcription	A549	lung
40	chr18:12641200-12643400	Weak transcription	HSMM	muscle
41	chr18:12641200-12643400	Weak transcription	NHLF	lung
42	chr18:12641200-12645200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr18:12641200-12645200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr18:12641200-12645200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr18:12641200-12645200	Weak transcription	Placenta	Placenta
46	chr18:12641200-12645400	Weak transcription	NH-A	brain
47	chr18:12641200-12645600	Weak transcription	Fetal Lung	lung
48	chr18:12641200-12645600	Weak transcription	NHDF-Ad	bronchial
49	chr18:12641200-12645800	Weak transcription	Lung	lung
50	chr18:12641400-12643200	Weak transcription	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links