Variant report

Variant	esv3436378
Chromosome Location	chr10:118999787-119002535
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	BACH1	chr10:119001150-119001313	H1-hESC	embryonic stem cell:	n/a	n/a
2	CCNT2	chr10:119001126-119001665	K562	blood:	n/a	n/a
3	CHD2	chr10:119000506-119000541	H1-hESC	embryonic stem cell:	n/a	n/a
4	CREB1	chr10:119000198-119000806	H1-hESC	embryonic stem cell:	n/a	chr10:119000574-119000587
5	CREB1	chr10:118999944-119000859	H1-hESC	embryonic stem cell:	n/a	chr10:119000574-119000587
6	CTBP2	chr10:118999810-119000801	H1-hESC	embryonic stem cell:	n/a	n/a
7	CUX1	chr10:119002044-119002131	K562	blood:	n/a	n/a
8	E2F6	chr10:119000390-119000514	K562	blood:	n/a	n/a
9	E2F6	chr10:119000014-119000687	H1-hESC	embryonic stem cell:	n/a	chr10:119000575-119000584 chr10:119000577-119000586
10	E2F6	chr10:119000134-119000670	H1-hESC	embryonic stem cell:	n/a	chr10:119000575-119000584 chr10:119000577-119000586
11	EGR1	chr10:119000255-119000789	H1-hESC	embryonic stem cell:	n/a	n/a
12	EGR1	chr10:119000290-119000745	H1-hESC	embryonic stem cell:	n/a	n/a
13	EGR1	chr10:119000403-119000686	K562	blood:	n/a	n/a
14	EP300	chr10:119001425-119001717	K562	blood:	n/a	n/a
15	GABPA	chr10:119000265-119000794	H1-hESC	embryonic stem cell:	n/a	n/a
16	GATA1	chr10:119001387-119001991	K562	blood:	n/a	n/a
17	GATA1	chr10:119001444-119001692	PBDE	blood:	n/a	n/a
18	GATA2	chr10:119001372-119001632	K562	blood:	n/a	n/a
19	GATA2	chr10:119001354-119001717	K562	blood:	n/a	n/a
20	HMGN3	chr10:119001404-119001644	K562	blood:	n/a	n/a
21	IRF1	chr10:119001484-119001656	K562	blood:	n/a	chr10:119001637-119001647
22	IRF1	chr10:119001478-119001771	K562	blood:	n/a	chr10:119001733-119001747 chr10:119001637-119001647
23	JUND	chr10:119001441-119001886	K562	blood:	n/a	n/a
24	JUND	chr10:119000358-119000715	H1-hESC	embryonic stem cell:	n/a	chr10:119000576-119000585
25	MAX	chr10:119000032-119000563	ECC-1	luminal epithelium:	n/a	chr10:119000397-119000407 chr10:119000437-119000447 chr10:119000266-119000279 chr10:119000438-119000447 chr10:119000271-119000279 chr10:119000266-119000279 chr10:119000263-119000282 chr10:119000266-119000279 chr10:119000268-119000277
26	MAX	chr10:118999659-119000601	H1-hESC	embryonic stem cell:	n/a	chr10:118999849-118999859 chr10:119000397-119000407 chr10:119000437-119000447 chr10:119000266-119000279 chr10:119000438-119000447 chr10:119000271-119000279 chr10:119000266-119000279 chr10:119000263-119000282 chr10:119000266-119000279 chr10:119000268-119000277
27	MAX	chr10:118999681-119000897	H1-hESC	embryonic stem cell:	n/a	chr10:118999849-118999859 chr10:119000397-119000407 chr10:119000437-119000447 chr10:119000266-119000279 chr10:119000438-119000447 chr10:119000271-119000279 chr10:119000266-119000279 chr10:119000263-119000282 chr10:119000266-119000279 chr10:119000268-119000277
28	MAX	chr10:118999723-119000462	H1-hESC	embryonic stem cell:	n/a	chr10:118999849-118999859 chr10:119000397-119000407 chr10:119000437-119000447 chr10:119000266-119000279 chr10:119000438-119000447 chr10:119000271-119000279 chr10:119000266-119000279 chr10:119000263-119000282 chr10:119000266-119000279 chr10:119000268-119000277
29	MAZ	chr10:118999771-118999840	K562	blood:	n/a	n/a
30	MAZ	chr10:119000251-119000359	K562	blood:	n/a	chr10:119000266-119000279 chr10:119000271-119000279 chr10:119000266-119000279 chr10:119000263-119000282 chr10:119000266-119000279 chr10:119000268-119000277
31	MXI1	chr10:119000279-119000433	H1-hESC	embryonic stem cell:	n/a	n/a
32	MXI1	chr10:118999642-118999912	H1-hESC	embryonic stem cell:	n/a	n/a
33	MYC	chr10:119001435-119001734	K562	blood:	n/a	n/a
34	MYC	chr10:119001530-119001573	K562	blood:	n/a	n/a
35	MYC	chr10:119000266-119000309	H1-hESC	embryonic stem cell:	n/a	chr10:119000266-119000279 chr10:119000271-119000279 chr10:119000266-119000279 chr10:119000266-119000279 chr10:119000268-119000277
36	MYC	chr10:119001142-119001683	K562	blood:	n/a	n/a
37	MYC	chr10:119001476-119001525	K562	blood:	n/a	n/a
38	NR2F2	chr10:119001348-119001764	K562	blood:	n/a	n/a
39	NR2F2	chr10:119001338-119001693	K562	blood:	n/a	n/a
40	NRF1	chr10:119000518-119000564	H1-hESC	embryonic stem cell:	n/a	n/a
41	PML	chr10:119001360-119001729	K562	blood:	n/a	n/a
42	POLR2A	chr10:119001063-119001084	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr10:119001446-119001683	K562	blood:	n/a	n/a
44	POLR2A	chr10:118999828-119000691	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr10:119001486-119001663	K562	blood:	n/a	n/a
46	POLR2A	chr10:119000346-119000498	H1-hESC	embryonic stem cell:	n/a	n/a
47	RAD21	chr10:119000005-119000182	H1-hESC	embryonic stem cell:	n/a	n/a
48	RCOR1	chr10:119001368-119001769	K562	blood:	n/a	n/a
49	SIN3A	chr10:118999652-119000895	H1-hESC	embryonic stem cell:	n/a	chr10:119000267-119000276 chr10:119000777-119000790
50	SIN3AK20	chr10:118999946-119000430	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:119001250-119001300	HCF	heart:	n/a
2	chr10:119001250-119001300	HCF	heart:	n/a
3	chr10:119000991-119001041	AoSMC	blood vessel:	n/a
4	chr10:119000236-119000286	HRCEpiC	kidney:	n/a
5	chr10:119001529-119001579	SK-N-SH	brain:	n/a
6	chr10:119000638-119000688	SAEC	small airway:	n/a
7	chr10:119000638-119000688	RPTEC	kidney:	n/a
8	chr10:119000991-119001041	PFSK-1	brain:	n/a
9	chr10:119000638-119000688	GM19239	blood:	n/a
10	chr10:119000215-119000265	GM12892	blood:	n/a
11	chr10:119001427-119001477	ovcar-3	ovarian:	n/a
12	chr10:119000236-119000286	GM19239	blood:	n/a
13	chr10:119001590-119001640	MCF10A-Er-Src	breast:	n/a
14	chr10:119000083-119000133	A549	lung:	n/a
15	chr10:119001066-119001116	U87	brain:	n/a
16	chr10:119000927-119000977	AG09319	gingival:	n/a
17	chr10:119000991-119001041	HRCEpiC	kidney:	n/a
18	chr10:119000236-119000286	HCT-116	colon:	n/a
19	chr10:119001427-119001477	IMR90	lung:	fetal
20	chr10:119001478-119001528	ECC-1	luminal epithelium:	n/a
21	chr10:119000638-119000688	NB4	blood:	n/a
22	chr10:119000991-119001041	HPAEpiC	pulmonary alveolar:	n/a
23	chr10:119001427-119001477	GM19239	blood:	n/a
24	chr10:119000236-119000286	SKMC	muscle:	n/a
25	chr10:119000638-119000688	Hela-S3	cervix:	n/a
26	chr10:119001066-119001116	AoSMC	blood vessel:	n/a
27	chr10:119000927-119000977	HCM	heart:	n/a
28	chr10:119000083-119000133	HIPEpiC	eye:	n/a
29	chr10:119001066-119001116	BJ	skin:	n/a
30	chr10:119001066-119001116	NHBE	bronchial:	n/a
31	chr10:119000236-119000286	HPAEpiC	pulmonary alveolar:	n/a
32	chr10:119000215-119000265	GM06990	blood:	n/a
33	chr10:119000215-119000265	Jurkat	blood:	n/a
34	chr10:119001590-119001640	HCM	heart:	n/a
35	chr10:119000638-119000688	HL-60	blood:	n/a
36	chr10:119001066-119001116	ProgFib	skin:	n/a
37	chr10:119000927-119000977	NHDF-neo	bronchial:	n/a
38	chr10:119000236-119000286	HAEpiC	amniotic membrane:	n/a
39	chr10:119001250-119001300	K562	blood:	n/a
40	chr10:119001427-119001477	HIPEpiC	eye:	n/a
41	chr10:119001427-119001477	HUVEC	blood vessel:	n/a
42	chr10:119000927-119000977	LNCaP	prostate:	n/a
43	chr10:119001529-119001579	AG10803	skin:	n/a
44	chr10:119001427-119001477	HCT-116	colon:	n/a
45	chr10:119000638-119000688	A549	lung:	n/a
46	chr10:119001250-119001300	PFSK-1	brain:	n/a
47	chr10:119000083-119000133	HUVEC	blood vessel:	n/a
48	chr10:119001529-119001579	AG04450	lung:	fetal
49	chr10:119000638-119000688	HepG2	liver:	n/a
50	chr10:119001427-119001477	LNCaP	prostate:	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:119001180..119001700-chr11:62609120..62609716,2	Hela-S3	cervix:
2	chr10:118991944..118994819-chr10:118998275..118999824,2	MCF-7	breast:
3	chr10:119001180..119002700-chr17:41466350..41468296,2	K562	blood:
4	chr10:119001180..119002700-chr3:73158602..73160591,2	K562	blood:
5	chr10:119001180..119002700-chr17:41464210..41468296,3	K562	blood:
6	chr10:118999700..119002680-chr17:41380895..41383406,2	K562	blood:
7	chr10:119001180..119002700-chr3:73158543..73161387,2	MCF-7	breast:
8	chr10:119001200..119002700-chr11:62609117..62610696,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDZD8-1	chr10:119001396-119001434	ENSG00000225936.1
2	lnc-PDZD8-1	chr10:118999832-119000515	NONHSAT016512
3	lnc-PDZD8-1	chr10:119001172-119001294	ENSG00000225936.1

Variant related genes	Relation type
ENSG00000225936	TF binding region
SLC18A2	TF binding region
ENSG00000225936	CpG island
SLC18A2	CpG island
ENSG00000223247	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000236383	chromatin interactions

Extended variants
information (count: 101 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143271501	chr10:118999794-118999795	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs372423435	chr10:118999799-118999800	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs2532804	chr10:118999844-118999845	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs550375349	chr10:118999865-118999866	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs115906821	chr10:118999890-118999891	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs118073301	chr10:118999907-118999908	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs2283135	chr10:118999932-118999933	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs552286181	chr10:119000024-119000025	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs532919276	chr10:119000026-119000027	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs565939262	chr10:119000027-119000028	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs567860348	chr10:119000029-119000030	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs370005307	chr10:119000033-119000034	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs60480609	chr10:119000035-119000036	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs565825413	chr10:119000060-119000061	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs57748965	chr10:119000096-119000097	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs369729347	chr10:119000195-119000196	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs548498559	chr10:119000241-119000242	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs568596791	chr10:119000376-119000377	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs561984349	chr10:119000444-119000445	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs557613435	chr10:119000477-119000478	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs576142477	chr10:119000506-119000507	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs538630763	chr10:119000522-119000523	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs60912143	chr10:119000528-119000529	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs2619095	chr10:119000531-119000532	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs113772579	chr10:119000533-119000534	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs541080677	chr10:119000552-119000553	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs12412905	chr10:119000560-119000561	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs60543597	chr10:119000572-119000573	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs543380368	chr10:119000576-119000577	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs563225180	chr10:119000613-119000614	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs532409557	chr10:119000630-119000631	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs545786944	chr10:119000670-119000671	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs7898581	chr10:119000684-119000685	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs60987089	chr10:119000691-119000692	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs548627248	chr10:119000794-119000795	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs112647562	chr10:119000955-119000956	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs529152942	chr10:119001015-119001016	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs531121390	chr10:119001019-119001020	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs112939962	chr10:119001092-119001093	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs551032913	chr10:119001117-119001118	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs571159852	chr10:119001125-119001126	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs556546648	chr10:119001142-119001143	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs540094005	chr10:119001147-119001148	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs2619094	chr10:119001151-119001152	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs371832657	chr10:119001155-119001156	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs565646646	chr10:119001164-119001165	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs200359470	chr10:119001181-119001182	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
48	rs554627946	chr10:119001209-119001210	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
49	rs368087382	chr10:119001231-119001232	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
50	rs371946127	chr10:119001249-119001250	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cornelia de Lange syndrome	24599119	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	16397240	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hepatocellular carcinoma	16750200	CNVD
Barrett''s syndrome	19417022	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neuroticism	17667963	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:195 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:118997400-119000000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr10:118997600-119000200	Weak transcription	Primary T cells from cord blood	blood
3	chr10:118998200-119000000	Enhancers	Primary hematopoietic stem cells	blood
4	chr10:118998600-119000400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr10:118999000-119000200	Bivalent Enhancer	Fetal Thymus	thymus
6	chr10:118999000-119000600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr10:118999400-118999800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr10:118999400-119000000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr10:118999400-119000200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr10:118999600-118999800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
11	chr10:118999600-119000000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
12	chr10:118999600-119000000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr10:118999600-119000400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr10:118999600-119001800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr10:118999600-119002000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr10:118999800-119000000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
17	chr10:118999800-119000200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
18	chr10:118999800-119000400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
19	chr10:118999800-119000800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr10:118999800-119001400	Active TSS	H9 Cell Line	embryonic stem cell
21	chr10:118999800-119001400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr10:118999800-119001400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr10:118999800-119001600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
24	chr10:118999800-119001600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr10:118999800-119001600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
26	chr10:119000000-119000200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr10:119000000-119000200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr10:119000000-119000200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr10:119000000-119000200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr10:119000000-119000200	Bivalent Enhancer	Brain Germinal Matrix	brain
31	chr10:119000000-119000200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr10:119000000-119000200	Bivalent Enhancer	Thymus	Thymus
33	chr10:119000000-119000400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr10:119000000-119000600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr10:119000000-119000800	Active TSS	H1 Cell Line	embryonic stem cell
36	chr10:119000000-119001000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr10:119000000-119001000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr10:119000000-119001600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
39	chr10:119000000-119001800	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr10:119000200-119000400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr10:119000200-119000400	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr10:119000200-119000400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
43	chr10:119000200-119000400	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr10:119000200-119000400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
45	chr10:119000200-119000400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr10:119000200-119000400	Bivalent Enhancer	Liver	Liver
47	chr10:119000200-119000400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
48	chr10:119000200-119000400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
49	chr10:119000200-119000400	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
50	chr10:119000200-119000400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum

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