Variant report

Variant	nsv1022582
Chromosome Location	chr8:10571218-10636162
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1036)
CpG islands
(count:2812)
Chromatin interactive
region (count:50)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1036 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:10631175-10631647	K562	blood:	n/a	n/a
2	ARID3A	chr8:10573811-10574014	K562	blood:	n/a	n/a
3	ARID3A	chr8:10634540-10635222	K562	blood:	n/a	n/a
4	ARID3A	chr8:10629194-10629470	K562	blood:	n/a	n/a
5	ARID3A	chr8:10618425-10619055	K562	blood:	n/a	n/a
6	ARID3A	chr8:10632964-10633416	K562	blood:	n/a	n/a
7	ATF1	chr8:10629162-10629538	K562	blood:	n/a	n/a
8	ATF1	chr8:10634783-10635469	K562	blood:	n/a	n/a
9	ATF1	chr8:10618426-10618829	K562	blood:	n/a	n/a
10	ATF3	chr8:10634812-10635209	K562	blood:	n/a	n/a
11	BACH1	chr8:10618657-10618682	K562	blood:	n/a	n/a
12	BACH1	chr8:10592011-10592388	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr8:10591105-10591489	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr8:10586165-10586427	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr8:10634535-10634552	K562	blood:	n/a	n/a
16	BACH1	chr8:10590004-10590533	H1-hESC	embryonic stem cell:	n/a	n/a
17	BHLHE40	chr8:10584116-10584359	K562	blood:	n/a	n/a
18	BHLHE40	chr8:10572568-10572607	K562	blood:	n/a	n/a
19	BHLHE40	chr8:10633148-10633444	K562	blood:	n/a	n/a
20	BHLHE40	chr8:10593145-10593457	K562	blood:	n/a	n/a
21	BHLHE40	chr8:10629130-10629563	K562	blood:	n/a	n/a
22	BHLHE40	chr8:10574501-10574728	K562	blood:	n/a	n/a
23	BHLHE40	chr8:10573631-10574069	K562	blood:	n/a	n/a
24	BHLHE40	chr8:10634083-10635624	K562	blood:	n/a	n/a
25	BHLHE40	chr8:10618383-10618969	K562	blood:	n/a	n/a
26	BRCA1	chr8:10573807-10574032	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr8:10570054-10571623	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr8:10587242-10587524	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr8:10593490-10593690	Hela-S3	cervix:	n/a	n/a
30	CBX3	chr8:10596477-10596833	K562	blood:	n/a	n/a
31	CBX3	chr8:10608999-10609321	K562	blood:	n/a	n/a
32	CBX3	chr8:10608949-10609429	HCT-116	colon:	n/a	n/a
33	CBX3	chr8:10608997-10609323	K562	blood:	n/a	n/a
34	CBX3	chr8:10596515-10596775	K562	blood:	n/a	n/a
35	CBX3	chr8:10573588-10574056	K562	blood:	n/a	n/a
36	CBX3	chr8:10634548-10635220	K562	blood:	n/a	n/a
37	CBX3	chr8:10634712-10635188	K562	blood:	n/a	n/a
38	CCNT2	chr8:10617880-10618137	K562	blood:	n/a	n/a
39	CCNT2	chr8:10573634-10574186	K562	blood:	n/a	n/a
40	CCNT2	chr8:10633114-10633530	K562	blood:	n/a	n/a
41	CCNT2	chr8:10618415-10618764	K562	blood:	n/a	n/a
42	CCNT2	chr8:10634549-10635416	K562	blood:	n/a	chr8:10634941-10634961
43	CEBPB	chr8:10570140-10571670	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr8:10602819-10603066	Hela-S3	cervix:	n/a	chr8:10602945-10602956
45	CEBPB	chr8:10633137-10633489	K562	blood:	n/a	n/a
46	CEBPB	chr8:10634708-10635140	K562	blood:	n/a	n/a
47	CEBPB	chr8:10602882-10603086	IMR90	lung:	n/a	chr8:10602945-10602956
48	CEBPB	chr8:10575751-10575883	K562	blood:	n/a	n/a
49	CEBPB	chr8:10576835-10577013	K562	blood:	n/a	n/a
50	CEBPB	chr8:10618410-10618990	K562	blood:	n/a	n/a

(count:2812 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:10584169-10584219	AG04449	skin:	fetal
2	chr8:10621801-10621851	MCF10A-Er-Src	breast:	n/a
3	chr8:10586796-10586846	HEEpiC	esophagus:	n/a
4	chr8:10583827-10583877	NT2-D1	testis:	n/a
5	chr8:10590177-10590227	HCT-116	colon:	n/a
6	chr8:10591768-10591818	HIPEpiC	eye:	n/a
7	chr8:10584169-10584219	AG04449	skin:	fetal
8	chr8:10621801-10621851	MCF10A-Er-Src	breast:	n/a
9	chr8:10586796-10586846	HEEpiC	esophagus:	n/a
10	chr8:10583827-10583877	NT2-D1	testis:	n/a
11	chr8:10590177-10590227	HCT-116	colon:	n/a
12	chr8:10591768-10591818	HIPEpiC	eye:	n/a
13	chr8:10583827-10583877	Jurkat	blood:	n/a
14	chr8:10617063-10617113	AG04449	skin:	fetal
15	chr8:10590641-10590691	SK-N-SH	brain:	n/a
16	chr8:10589093-10589143	HUVEC	blood vessel:	n/a
17	chr8:10591081-10591131	AG09319	gingival:	n/a
18	chr8:10623344-10623394	Jurkat	blood:	n/a
19	chr8:10586882-10586932	GM12878	blood:	n/a
20	chr8:10589359-10589409	Jurkat	blood:	n/a
21	chr8:10586678-10586728	NT2-D1	testis:	n/a
22	chr8:10622887-10622937	HRCEpiC	kidney:	n/a
23	chr8:10591633-10591683	NT2-D1	testis:	n/a
24	chr8:10591768-10591818	AG04449	skin:	fetal
25	chr8:10583827-10583877	ECC-1	luminal epithelium:	n/a
26	chr8:10573804-10573854	HRCEpiC	kidney:	n/a
27	chr8:10591633-10591683	BJ	skin:	n/a
28	chr8:10586882-10586932	LNCaP	prostate:	n/a
29	chr8:10623038-10623088	RPTEC	kidney:	n/a
30	chr8:10635419-10635469	HL-60	blood:	n/a
31	chr8:10591768-10591818	BJ	skin:	n/a
32	chr8:10583827-10583877	T-47D	breast:	n/a
33	chr8:10590641-10590691	HEEpiC	esophagus:	n/a
34	chr8:10589905-10589955	GM06990	blood:	n/a
35	chr8:10587055-10587105	HIPEpiC	eye:	n/a
36	chr8:10586882-10586932	PANC-1	pancreas:	n/a
37	chr8:10587604-10587654	NHDF-neo	bronchial:	n/a
38	chr8:10586135-10586185	PFSK-1	brain:	n/a
39	chr8:10581988-10582038	BE2_C	brain:	n/a
40	chr8:10591768-10591818	H1-hESC	embryonic stem cell:	embryo
41	chr8:10590503-10590553	HepG2	liver:	n/a
42	chr8:10589905-10589955	CMK	blood:	n/a
43	chr8:10590641-10590691	HAEpiC	amniotic membrane:	n/a
44	chr8:10622887-10622937	ovcar-3	ovarian:	n/a
45	chr8:10585394-10585444	PFSK-1	brain:	n/a
46	chr8:10621801-10621851	K562	blood:	n/a
47	chr8:10589905-10589955	SAEC	small airway:	n/a
48	chr8:10593133-10593183	HL-60	blood:	n/a
49	chr8:10635419-10635469	SK-N-SH	brain:	n/a
50	chr8:10581784-10581834	HUVEC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr17:76355700..76356289-chr8:10587147..10587668,2	Hela-S3	cervix:
2	chr8:10591978..10593893-chr8:10610774..10613689,2	K562	blood:
3	chr19:49122189..49122746-chr8:10587564..10588179,2	Hela-S3	cervix:
4	chr8:10581535..10584414-chr8:10592948..10594895,2	MCF-7	breast:
5	chr8:10582500..10584094-chr8:10592919..10595783,2	K562	blood:
6	chr8:10634439..10636776-chr8:10637920..10639941,2	K562	blood:
7	chr8:10615290..10617626-chr8:10678525..10680394,2	K562	blood:
8	chr8:10581535..10584414-chr8:10592948..10594895,2	MCF-7	breast:
9	chr8:10595931..10598685-chr8:10600314..10603281,2	K562	blood:
10	chr8:10572945..10574994-chr8:10579706..10582412,2	K562	blood:
11	chr8:10620237..10621942-chr8:10624836..10626716,2	K562	blood:
12	chr8:10592393..10594061-chr8:10610774..10613759,2	K562	blood:
13	chr8:10611693..10613429-chr8:10616715..10619425,2	K562	blood:
14	chr8:10447712..10448262-chr8:10591419..10591945,2	MCF-7	breast:
15	chr8:10616130..10621063-chr8:10631004..10634975,5	K562	blood:
16	chr8:10573494..10575019-chr8:10578805..10581206,2	K562	blood:
17	chr8:10583182..10585584-chr8:10585920..10587606,2	K562	blood:
18	chr8:10611693..10613429-chr8:10616715..10619425,2	K562	blood:
19	chr8:10595931..10598685-chr8:10600314..10603281,2	K562	blood:
20	chr8:10582500..10584094-chr8:10592919..10595783,2	K562	blood:
21	chr8:10622933..10625831-chr8:10627358..10629898,3	K562	blood:
22	chr3:150320845..150321467-chr8:10587564..10588347,2	Hela-S3	cervix:
23	chr8:10613644..10615982-chr8:10616006..10618005,2	MCF-7	breast:
24	chr8:10613644..10615982-chr8:10616006..10618005,2	MCF-7	breast:
25	chr8:10615706..10617702-chr8:10620374..10622044,2	K562	blood:
26	chr8:10633410..10636281-chr8:10695946..10698229,2	K562	blood:
27	chr8:10620237..10621942-chr8:10624836..10626716,2	K562	blood:
28	chr8:10592393..10594061-chr8:10610774..10613759,2	K562	blood:
29	chr8:10635373..10637028-chr8:10639267..10640869,2	MCF-7	breast:
30	chr8:10631743..10634256-chr8:10658449..10660185,2	K562	blood:
31	chr8:10582499..10584929-chr8:10712844..10715124,2	K562	blood:
32	chr8:10568215..10570516-chr8:10570791..10574753,3	K562	blood:
33	chr8:10447691..10448293-chr8:10586014..10586821,3	MCF-7	breast:
34	chr8:10591978..10593893-chr8:10610774..10613689,2	K562	blood:
35	chr8:10621941..10624619-chr8:10627842..10631333,3	K562	blood:
36	chr8:10561128..10563766-chr8:10580957..10583552,2	K562	blood:
37	chr8:10561879..10564186-chr8:10576793..10578956,2	K562	blood:
38	chr8:10616130..10621063-chr8:10631004..10634975,5	K562	blood:
39	chr8:10501933..10503647-chr8:10579530..10582148,2	K562	blood:
40	chr8:10572945..10574994-chr8:10579706..10582412,2	K562	blood:
41	chr8:10549207..10552160-chr8:10577938..10579847,2	K562	blood:
42	chr8:10628530..10631997-chr8:10633640..10636320,4	K562	blood:
43	chr8:10587371..10588109-chrX:24072903..24073555,2	Hela-S3	cervix:
44	chr8:10573494..10575019-chr8:10578805..10581206,2	K562	blood:
45	chr8:10628530..10631997-chr8:10633640..10636320,4	K562	blood:
46	chr17:76355751..76356585-chr8:10587149..10587668,2	MCF-7	breast:
47	chr8:10622933..10625831-chr8:10627358..10629898,3	K562	blood:
48	chr8:10621941..10624619-chr8:10627842..10631333,3	K562	blood:
49	chr17:76355736..76356660-chr8:10587148..10587669,5	HCT-116	colon:
50	chr8:10615706..10617702-chr8:10620374..10622044,2	K562	blood:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C8orf74-1	chr8:10586824-10587140	ENSG00000248896
2	lnc-C8orf74-1	chr8:10586824-10587140	NONHSAT125014
3	lnc-C8orf74-1	chr8:10611712-10611828	NONHSAT125014
4	lnc-C8orf74-1	chr8:10611712-10611828	ENSG00000248896
5	lnc-PINX1-1	chr8:10615296-10618693	NONHSAT125016
6	lnc-C8orf74-1	chr8:10621847-10622233	ENSG00000248896
7	lnc-C8orf74-1	chr8:10587088-10587140	ENSG00000248896
8	lnc-C8orf74-1	chr8:10622680-10622686	NONHSAT125014
9	lnc-C8orf74-1	chr8:10621847-10622667	NONHSAT125014
10	lnc-C8orf74-4	chr8:10624234-10624550	ucscGeneNc_uc003wtg_1
11	lnc-C8orf74-1	chr8:10628705-10628902	ENSG00000248896

No data

Variant related genes	Relation type
RP1L1	TF binding region
SOX7	TF binding region
ENSG00000248896	TF binding region
RP1L1	CpG island
SOX7	CpG island
ENSG00000248896	CpG island
ENSG00000266970	chromatin interactions
ENSG00000130741	chromatin interactions
ENSG00000063177	chromatin interactions
ENSG00000184557	chromatin interactions
ENSG00000198843	chromatin interactions
ENSG00000254093	chromatin interactions
ENSG00000248896	chromatin interactions
ENSG00000183638	chromatin interactions
ENSG00000258724	chromatin interactions
ENSG00000120742	chromatin interactions
ENSG00000063176	chromatin interactions
ENSG00000253695	chromatin interactions
HSPA1B	miRNA target sites
NAMPT	miRNA target sites

Extended variants
information (count: 3112 )
Associated
traits (count: 148 )

Variant overlapped rSNPs/rCNVs (count:3112 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187843268	chr8:10571223-10571224	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs550022066	chr8:10571224-10571225	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs75837714	chr8:10571231-10571232	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs149352694	chr8:10571298-10571299	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs555388738	chr8:10571307-10571308	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs7844380	chr8:10571310-10571311	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs534611343	chr8:10571315-10571316	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs192757286	chr8:10571316-10571317	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs577781068	chr8:10571332-10571333	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs144708271	chr8:10571336-10571337	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs563320120	chr8:10571356-10571357	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs370770626	chr8:10571419-10571420	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs573729361	chr8:10571445-10571446	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs542737197	chr8:10571448-10571449	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs7827948	chr8:10571465-10571466	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs528046787	chr8:10571480-10571481	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs182353570	chr8:10571481-10571482	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs4484649	chr8:10571491-10571492	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs370627409	chr8:10571492-10571493	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs550377912	chr8:10571498-10571499	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs187785630	chr8:10571512-10571513	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs60270701	chr8:10571520-10571521	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs549023955	chr8:10571521-10571522	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs151119623	chr8:10571523-10571524	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs565737176	chr8:10571526-10571527	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs370986638	chr8:10571541-10571542	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs201494406	chr8:10571542-10571543	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs199537083	chr8:10571544-10571545	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs74753270	chr8:10571556-10571557	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs545523928	chr8:10571572-10571573	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs558778263	chr8:10571578-10571579	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs557779194	chr8:10571579-10571580	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs184683453	chr8:10571583-10571584	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs113804695	chr8:10571584-10571585	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs7844805	chr8:10571591-10571592	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs145544853	chr8:10571598-10571599	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs573715922	chr8:10571615-10571616	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs189058469	chr8:10571637-10571638	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs74406288	chr8:10571663-10571664	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs371540930	chr8:10571675-10571676	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs572893091	chr8:10571736-10571737	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs74918663	chr8:10571775-10571776	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs192038276	chr8:10571785-10571786	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs533727318	chr8:10571787-10571788	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs7016693	chr8:10571806-10571807	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs563914655	chr8:10571842-10571843	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs529398494	chr8:10571862-10571863	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs549085293	chr8:10571882-10571883	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs565799190	chr8:10571903-10571904	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs528546775	chr8:10571954-10571955	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:148)

Disease	PMID	Source
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Gastric cancer	21811585	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Renal cell carcinoma	21215367	CNVD
Osteosarcoma	21215367	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:1650 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10567400-10571800	Enhancers	HMEC	breast
2	chr8:10567800-10571600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:10567800-10572200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:10568800-10571400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:10568800-10571800	Enhancers	HUVEC	blood vessel
6	chr8:10568800-10572600	Weak transcription	Right Atrium	heart
7	chr8:10568800-10573400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr8:10569000-10571400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:10569000-10571400	Weak transcription	Spleen	Spleen
10	chr8:10569000-10572000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:10569000-10573200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:10569400-10571600	Weak transcription	Left Ventricle	heart
13	chr8:10569600-10573400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr8:10570200-10571400	Flanking Active TSS	Hela-S3	cervix
15	chr8:10570200-10572200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr8:10570200-10575000	Enhancers	Duodenum Mucosa	Duodenum
17	chr8:10570400-10573400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:10570600-10572000	Enhancers	Liver	Liver
19	chr8:10570600-10572200	Enhancers	NHEK	skin
20	chr8:10570800-10573200	Weak transcription	K562	blood
21	chr8:10570800-10575800	Enhancers	Lung	lung
22	chr8:10571200-10572600	Enhancers	Esophagus	oesophagus
23	chr8:10571200-10574200	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr8:10571400-10571600	Active TSS	Spleen	Spleen
25	chr8:10571400-10572000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:10571400-10572200	Enhancers	Colonic Mucosa	Colon
27	chr8:10571400-10573200	Enhancers	Hela-S3	cervix
28	chr8:10571400-10573400	Bivalent Enhancer	Right Ventricle	heart
29	chr8:10571600-10571800	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr8:10571600-10571800	Enhancers	Brain Germinal Matrix	brain
31	chr8:10571600-10571800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr8:10571600-10571800	Enhancers	Left Ventricle	heart
33	chr8:10571600-10571800	Flanking Active TSS	Spleen	Spleen
34	chr8:10571800-10572200	Weak transcription	Left Ventricle	heart
35	chr8:10571800-10572200	Weak transcription	HUVEC	blood vessel
36	chr8:10571800-10574000	Enhancers	Spleen	Spleen
37	chr8:10572000-10573000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr8:10572000-10573000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:10572000-10583000	Weak transcription	Liver	Liver
40	chr8:10572200-10572400	Bivalent Enhancer	Placenta	Placenta
41	chr8:10572200-10572600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:10572200-10572600	Enhancers	Left Ventricle	heart
43	chr8:10572200-10572600	Weak transcription	NHEK	skin
44	chr8:10572200-10573400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
45	chr8:10572200-10575400	Enhancers	HUVEC	blood vessel
46	chr8:10572400-10572800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
47	chr8:10572400-10573200	Enhancers	Fetal Muscle Leg	muscle
48	chr8:10572400-10574200	Bivalent Enhancer	Adipose Nuclei	Adipose
49	chr8:10572600-10573000	Weak transcription	Esophagus	oesophagus
50	chr8:10572600-10573400	Enhancers	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links