Variant report

Variant	esv3369954
Chromosome Location	chr8:105600126-105602924
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:569)
CpG islands
(count:549)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:569 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:105602106-105602508	K562	blood:	n/a	n/a
2	ARID3A	chr8:105599810-105600452	K562	blood:	n/a	n/a
3	ARID3A	chr8:105601451-105601651	HepG2	liver:	n/a	n/a
4	ARID3A	chr8:105601357-105601729	K562	blood:	n/a	n/a
5	ATF2	chr8:105601314-105601715	GM12878	blood:	n/a	n/a
6	ATF2	chr8:105601390-105601694	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr8:105601449-105601494	K562	blood:	n/a	n/a
8	BACH1	chr8:105600417-105600945	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr8:105601254-105602100	H1-hESC	embryonic stem cell:	n/a	n/a
10	BATF	chr8:105601344-105601694	GM12878	blood:	n/a	n/a
11	BCL11A	chr8:105601500-105601660	GM12878	blood:	n/a	n/a
12	BCLAF1	chr8:105601331-105601682	GM12878	blood:	n/a	n/a
13	BCLAF1	chr8:105601228-105601733	GM12878	blood:	n/a	chr8:105601257-105601270 chr8:105601720-105601733
14	BHLHE40	chr8:105600996-105602619	K562	blood:	n/a	chr8:105602037-105602053
15	BHLHE40	chr8:105600254-105600630	K562	blood:	n/a	n/a
16	BHLHE40	chr8:105601322-105601789	GM12878	blood:	n/a	n/a
17	BHLHE40	chr8:105600955-105601044	GM12878	blood:	n/a	n/a
18	BHLHE40	chr8:105601358-105601719	HepG2	liver:	n/a	n/a
19	BRCA1	chr8:105600376-105600409	GM12878	blood:	n/a	n/a
20	BRCA1	chr8:105601414-105601664	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr8:105600439-105600600	H1-hESC	embryonic stem cell:	n/a	n/a
22	BRCA1	chr8:105601453-105601694	HepG2	liver:	n/a	n/a
23	BRCA1	chr8:105601470-105601966	GM12878	blood:	n/a	n/a
24	CBX3	chr8:105600985-105601818	K562	blood:	n/a	n/a
25	CBX3	chr8:105601358-105601707	K562	blood:	n/a	n/a
26	CBX3	chr8:105601843-105603096	K562	blood:	n/a	n/a
27	CCNT2	chr8:105600412-105602093	K562	blood:	n/a	chr8:105601731-105601740 chr8:105600629-105600638
28	CEBPB	chr8:105600341-105600391	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr8:105601108-105601748	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr8:105601452-105601689	K562	blood:	n/a	n/a
31	CHD1	chr8:105600862-105601120	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD1	chr8:105597872-105601900	GM12878	blood:	n/a	chr8:105601730-105601740
33	CHD2	chr8:105600444-105600664	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr8:105600357-105600713	GM12878	blood:	n/a	n/a
35	CHD2	chr8:105601011-105601799	Hela-S3	cervix:	n/a	chr8:105601730-105601740
36	CHD2	chr8:105601093-105602180	K562	blood:	n/a	chr8:105601730-105601740
37	CHD2	chr8:105600984-105601131	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD2	chr8:105601348-105601657	HepG2	liver:	n/a	n/a
39	CHD2	chr8:105600973-105601977	GM12878	blood:	n/a	chr8:105601730-105601740
40	CHD2	chr8:105600365-105600639	Hela-S3	cervix:	n/a	n/a
41	CHD2	chr8:105601334-105601711	H1-hESC	embryonic stem cell:	n/a	n/a
42	CREB1	chr8:105601428-105601679	A549	lung:	n/a	n/a
43	CREB1	chr8:105600984-105601730	H1-hESC	embryonic stem cell:	n/a	n/a
44	CREB1	chr8:105600946-105601705	A549	lung:	n/a	n/a
45	CREB1	chr8:105601321-105601821	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTBP2	chr8:105600348-105601777	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr8:105601483-105601514	MCF-7	breast:	n/a	n/a
48	CTCF	chr8:105601420-105601570	WERI-Rb-1	eye:	n/a	n/a
49	CTCF	chr8:105601340-105601490	NHEK	skin:	n/a	n/a
50	CTCF	chr8:105601509-105601640	Lung_OC	lung:	n/a	n/a

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:105600242-105600292	HNPCEpiC	eye:	n/a
2	chr8:105601036-105601086	NH-A	brain:	n/a
3	chr8:105601615-105601665	IMR90	lung:	fetal
4	chr8:105601835-105601885	BE2_C	brain:	n/a
5	chr8:105601047-105601097	SKMC	muscle:	n/a
6	chr8:105601036-105601086	SK-N-SH_RA	brain:	n/a
7	chr8:105600724-105600774	HCM	heart:	n/a
8	chr8:105601862-105601912	AG04449	skin:	fetal
9	chr8:105601036-105601086	GM06990	blood:	n/a
10	chr8:105600724-105600774	Hela-S3	cervix:	n/a
11	chr8:105600242-105600292	NB4	blood:	n/a
12	chr8:105601641-105601691	ovcar-3	ovarian:	n/a
13	chr8:105601036-105601086	AG10803	skin:	n/a
14	chr8:105601862-105601912	HPAEpiC	pulmonary alveolar:	n/a
15	chr8:105601835-105601885	AoSMC	blood vessel:	n/a
16	chr8:105600724-105600774	AG09309	skin:	n/a
17	chr8:105601615-105601665	LNCaP	prostate:	n/a
18	chr8:105600242-105600292	AG04449	skin:	fetal
19	chr8:105601615-105601665	Caco-2	colon:	n/a
20	chr8:105601696-105601746	HUVEC	blood vessel:	n/a
21	chr8:105600724-105600774	NT2-D1	testis:	n/a
22	chr8:105601641-105601691	BJ	skin:	n/a
23	chr8:105601036-105601086	MCF-7	breast:	n/a
24	chr8:105600242-105600292	RPTEC	kidney:	n/a
25	chr8:105600242-105600292	HCF	heart:	n/a
26	chr8:105601696-105601746	GM19239	blood:	n/a
27	chr8:105601047-105601097	MCF10A-Er-Src	breast:	n/a
28	chr8:105601047-105601097	HL-60	blood:	n/a
29	chr8:105601696-105601746	LNCaP	prostate:	n/a
30	chr8:105601641-105601691	Caco-2	colon:	n/a
31	chr8:105601862-105601912	ProgFib	skin:	n/a
32	chr8:105601615-105601665	HPAEpiC	pulmonary alveolar:	n/a
33	chr8:105601615-105601665	NH-A	brain:	n/a
34	chr8:105601615-105601665	GM12891	blood:	n/a
35	chr8:105600724-105600774	SAEC	small airway:	n/a
36	chr8:105601862-105601912	NHDF-neo	bronchial:	n/a
37	chr8:105601615-105601665	NHDF-neo	bronchial:	n/a
38	chr8:105601036-105601086	NHDF-neo	bronchial:	n/a
39	chr8:105600242-105600292	HRE	kidney:	n/a
40	chr8:105601835-105601885	BJ	skin:	n/a
41	chr8:105601641-105601691	SKMC	muscle:	n/a
42	chr8:105601862-105601912	AG09309	skin:	n/a
43	chr8:105600242-105600292	ECC-1	luminal epithelium:	n/a
44	chr8:105601615-105601665	SK-N-SH	brain:	n/a
45	chr8:105601835-105601885	SK-N-MC	brain:	n/a
46	chr8:105601036-105601086	PANC-1	pancreas:	n/a
47	chr8:105601047-105601097	AG04449	skin:	fetal
48	chr8:105601862-105601912	HEK293	kidney:	embryo
49	chr8:105601862-105601912	GM19239	blood:	n/a
50	chr8:105601641-105601691	GM19239	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr8:105587608..105589528-chr8:105597267..105600152,2	K562	blood:
2	chr8:105599361..105601982-chr8:105602248..105604776,3	MCF-7	breast:
3	chr8:105599361..105601982-chr8:105602248..105604776,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253350	TF binding region
LRP12	TF binding region
ENSG00000253350	CpG island
LRP12	CpG island
ENSG00000147650	chromatin interactions
ENSG00000253350	chromatin interactions

Extended variants
information (count: 152 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:152 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547927402	chr8:105600127-105600128	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs190697444	chr8:105600141-105600142	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs540096637	chr8:105600170-105600171	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs557801788	chr8:105600190-105600191	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs192091410	chr8:105600198-105600199	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs569652183	chr8:105600204-105600205	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs149737182	chr8:105600212-105600213	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs77068296	chr8:105600214-105600215	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs145472692	chr8:105600223-105600224	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs534521338	chr8:105600256-105600257	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs553106138	chr8:105600264-105600265	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs148811710	chr8:105600277-105600278	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs545806395	chr8:105600311-105600312	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs544889799	chr8:105600320-105600321	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs564170063	chr8:105600335-105600336	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs563885172	chr8:105600341-105600342	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs143503643	chr8:105600351-105600352	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs7823671	chr8:105600354-105600355	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs7823672	chr8:105600355-105600356	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs373512053	chr8:105600377-105600378	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs117884076	chr8:105600422-105600423	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs116769719	chr8:105600480-105600481	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs114392968	chr8:105600487-105600488	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs535171067	chr8:105600500-105600501	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs199669277	chr8:105600527-105600528	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs139466694	chr8:105600529-105600530	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs368336771	chr8:105600545-105600546	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs142040133	chr8:105600569-105600570	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs552080730	chr8:105600600-105600601	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs569714814	chr8:105600603-105600604	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs549097935	chr8:105600636-105600637	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs548952014	chr8:105600651-105600652	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs184636404	chr8:105600665-105600666	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs534680021	chr8:105600673-105600674	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs552925285	chr8:105600708-105600709	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs376997964	chr8:105600711-105600712	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs577744009	chr8:105600728-105600729	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs538591620	chr8:105600731-105600732	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs13266321	chr8:105600732-105600733	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs188657459	chr8:105600749-105600750	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs146837226	chr8:105600768-105600769	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs139210143	chr8:105600776-105600777	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs574068071	chr8:105600800-105600801	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs541501006	chr8:105600825-105600826	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs559725426	chr8:105600840-105600841	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs533562902	chr8:105600850-105600851	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs552143996	chr8:105600851-105600852	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs531400782	chr8:105600861-105600862	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs563974326	chr8:105600889-105600890	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs531201901	chr8:105600893-105600894	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:386 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105598600-105602400	Active TSS	GM12878-XiMat	blood
2	chr8:105598800-105600600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:105598800-105602000	Active TSS	Brain Anterior Caudate	brain
4	chr8:105598800-105602000	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr8:105599000-105600200	Enhancers	Fetal Stomach	stomach
6	chr8:105599000-105602000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:105599200-105600200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr8:105599200-105600200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr8:105599200-105602000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:105599200-105602400	Active TSS	Right Atrium	heart
11	chr8:105599200-105602400	Active TSS	Right Ventricle	heart
12	chr8:105599400-105600200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:105599400-105600200	Flanking Active TSS	Brain Hippocampus Middle	brain
14	chr8:105599400-105600200	Enhancers	Ovary	ovary
15	chr8:105599400-105600400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:105599400-105600600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:105599400-105600600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:105599400-105601000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr8:105599400-105602200	Active TSS	Left Ventricle	heart
20	chr8:105599600-105600200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
21	chr8:105599600-105600200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
22	chr8:105599600-105600200	Enhancers	Primary hematopoietic stem cells	blood
23	chr8:105599600-105600400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr8:105599600-105600400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr8:105599600-105600400	Flanking Active TSS	Rectal Smooth Muscle	rectum
26	chr8:105599600-105600400	Flanking Active TSS	Dnd41	blood
27	chr8:105599600-105600400	Flanking Active TSS	Osteobl	bone
28	chr8:105599600-105600600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr8:105599600-105600800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:105599600-105601800	Active TSS	H9 Cell Line	embryonic stem cell
31	chr8:105599600-105602400	Active TSS	Colonic Mucosa	Colon
32	chr8:105599800-105600200	Enhancers	Primary T cells from cord blood	blood
33	chr8:105599800-105600200	Active TSS	Fetal Muscle Leg	muscle
34	chr8:105599800-105600200	Active TSS	Fetal Thymus	thymus
35	chr8:105599800-105600200	Weak transcription	Small Intestine	intestine
36	chr8:105599800-105600200	Flanking Active TSS	A549	lung
37	chr8:105599800-105600400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
38	chr8:105599800-105600400	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr8:105599800-105600600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:105599800-105600600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr8:105599800-105601800	Active TSS	Fetal Brain Female	brain
42	chr8:105599800-105602000	Active TSS	Brain Angular Gyrus	brain
43	chr8:105599800-105602000	Active TSS	Brain Cingulate Gyrus	brain
44	chr8:105599800-105602200	Active TSS	Fetal Kidney	kidney
45	chr8:105599800-105602400	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr8:105599800-105602400	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr8:105599800-105602400	Active TSS	HSMMtube	muscle
48	chr8:105600000-105600200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr8:105600000-105600200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr8:105600000-105600200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links