Variant report

Variant	nsv534859
Chromosome Location	chr1:10698017-10727284
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:412)
CpG islands
(count:3848)
Chromatin interactive
region (count:34)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:412 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:10706410-10706754	K562	blood:	n/a	n/a
2	ATF3	chr1:10706380-10706785	K562	blood:	n/a	n/a
3	ATF3	chr1:10711894-10712078	K562	blood:	n/a	n/a
4	ATF3	chr1:10706374-10706728	K562	blood:	n/a	n/a
5	BACH1	chr1:10709033-10709307	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr1:10710049-10710152	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr1:10699434-10699676	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCL3	chr1:10711172-10711384	GM12878	blood:	n/a	n/a
9	BCL3	chr1:10722391-10722933	GM12878	blood:	n/a	n/a
10	BCL3	chr1:10711104-10711370	GM12878	blood:	n/a	n/a
11	BCL3	chr1:10722400-10722952	GM12878	blood:	n/a	n/a
12	BHLHE40	chr1:10706431-10706689	K562	blood:	n/a	n/a
13	BHLHE40	chr1:10722323-10722716	K562	blood:	n/a	n/a
14	BHLHE40	chr1:10704722-10704778	K562	blood:	n/a	n/a
15	BHLHE40	chr1:10701393-10701600	HepG2	liver:	n/a	n/a
16	CBX3	chr1:10706366-10706742	K562	blood:	n/a	n/a
17	CEBPB	chr1:10706457-10706718	A549	lung:	n/a	n/a
18	CEBPB	chr1:10704649-10704938	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr1:10711206-10711315	HepG2	liver:	n/a	n/a
20	CEBPB	chr1:10706429-10706778	K562	blood:	n/a	n/a
21	CEBPB	chr1:10706493-10706670	K562	blood:	n/a	n/a
22	CEBPB	chr1:10706418-10706752	IMR90	lung:	n/a	n/a
23	CEBPB	chr1:10706430-10706778	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr1:10706393-10706782	K562	blood:	n/a	n/a
25	CEBPB	chr1:10706494-10706643	HepG2	liver:	n/a	n/a
26	CHD1	chr1:10699506-10699568	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD2	chr1:10704633-10704864	Hela-S3	cervix:	n/a	n/a
28	CREB1	chr1:10706387-10706867	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr1:10719500-10719650	GM12874	blood:	n/a	n/a
30	CTCF	chr1:10725496-10725547	K562	blood:	n/a	n/a
31	CTCF	chr1:10715680-10715830	GM06990	blood:	n/a	n/a
32	CTCF	chr1:10707660-10707810	NHEK	skin:	n/a	n/a
33	CTCF	chr1:10698120-10698270	HPF	lung:	n/a	n/a
34	CTCF	chr1:10721656-10721694	Lung_OC	lung:	n/a	n/a
35	CTCF	chr1:10706747-10706815	NHEK	skin:	n/a	n/a
36	CTCF	chr1:10699440-10699590	HCFaa	heart:	n/a	n/a
37	CTCF	chr1:10700172-10700264	H1-hESC	embryonic stem cell:	n/a	chr1:10700209-10700222
38	CTCF	chr1:10699460-10699610	AoAF	blood vessel:	n/a	n/a
39	CTCF	chr1:10698280-10698430	HCPEpiC	choroid plexus:	n/a	n/a
40	CTCF	chr1:10723720-10723870	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr1:10721500-10721579	GM19239	blood:	n/a	n/a
42	CTCF	chr1:10699420-10699570	HRPEpiC	eye:	n/a	n/a
43	CTCF	chr1:10722357-10722415	GM19239	blood:	n/a	n/a
44	CTCF	chr1:10699360-10699510	HA-sp	spinal cord:	n/a	n/a
45	CTCF	chr1:10724572-10724597	Spleen_OC	spleen:	n/a	n/a
46	CTCF	chr1:10699420-10699570	HBMEC	blood vessel:	n/a	n/a
47	CTCF	chr1:10698220-10698510	HA-sp	spinal cord:	n/a	n/a
48	CTCF	chr1:10725502-10725539	K562	blood:	n/a	n/a
49	CTCF	chr1:10698400-10698550	NHDF-neo	bronchial:	n/a	n/a
50	CTCF	chr1:10700460-10700610	SK-N-SH_RA	brain:	n/a	n/a

(count:3848 , 50 per page) page: 1 2 3 4 5 6 7 ... 77

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:10698313-10698363	SKMC	muscle:	n/a
2	chr1:10698313-10698363	PANC-1	pancreas:	n/a
3	chr1:10699975-10700025	HCF	heart:	n/a
4	chr1:10720269-10720319	SAEC	small airway:	n/a
5	chr1:10707953-10708003	GM06990	blood:	n/a
6	chr1:10698313-10698363	SKMC	muscle:	n/a
7	chr1:10698313-10698363	PANC-1	pancreas:	n/a
8	chr1:10699975-10700025	HCF	heart:	n/a
9	chr1:10720269-10720319	SAEC	small airway:	n/a
10	chr1:10707953-10708003	GM06990	blood:	n/a
11	chr1:10710847-10710897	AG10803	skin:	n/a
12	chr1:10725218-10725268	PrEC	prostate:	n/a
13	chr1:10723630-10723680	SKMC	muscle:	n/a
14	chr1:10712967-10713017	SKMC	muscle:	n/a
15	chr1:10701900-10701950	ProgFib	skin:	n/a
16	chr1:10714160-10714210	Hepatocyte	liver:	n/a
17	chr1:10705035-10705085	PFSK-1	brain:	n/a
18	chr1:10712967-10713017	HCF	heart:	n/a
19	chr1:10726865-10726915	Caco-2	colon:	n/a
20	chr1:10699975-10700025	GM12878	blood:	n/a
21	chr1:10699604-10699654	HepG2	liver:	n/a
22	chr1:10707917-10707967	HIPEpiC	eye:	n/a
23	chr1:10705035-10705085	HRPEpiC	eye:	n/a
24	chr1:10720466-10720516	T-47D	breast:	n/a
25	chr1:10698794-10698844	AG04449	skin:	fetal
26	chr1:10702712-10702762	GM12878	blood:	n/a
27	chr1:10718221-10718271	HRPEpiC	eye:	n/a
28	chr1:10726865-10726915	BJ	skin:	n/a
29	chr1:10713944-10713994	PFSK-1	brain:	n/a
30	chr1:10711044-10711094	Caco-2	colon:	n/a
31	chr1:10709702-10709752	HPAEpiC	pulmonary alveolar:	n/a
32	chr1:10707917-10707967	NHBE	bronchial:	n/a
33	chr1:10725254-10725304	HRE	kidney:	n/a
34	chr1:10714701-10714751	A549	lung:	n/a
35	chr1:10699975-10700025	AG04449	skin:	fetal
36	chr1:10726865-10726915	PrEC	prostate:	n/a
37	chr1:10720111-10720161	LNCaP	prostate:	n/a
38	chr1:10708003-10708053	AG10803	skin:	n/a
39	chr1:10720466-10720516	GM12878	blood:	n/a
40	chr1:10698794-10698844	A549	lung:	n/a
41	chr1:10711542-10711592	PANC-1	pancreas:	n/a
42	chr1:10720111-10720161	HNPCEpiC	eye:	n/a
43	chr1:10718221-10718271	K562	blood:	n/a
44	chr1:10724490-10724540	SKMC	muscle:	n/a
45	chr1:10711695-10711745	A549	lung:	n/a
46	chr1:10704886-10704936	HCT-116	colon:	n/a
47	chr1:10712967-10713017	HUVEC	blood vessel:	n/a
48	chr1:10699831-10699881	NB4	blood:	n/a
49	chr1:10711457-10711507	NH-A	brain:	n/a
50	chr1:10726865-10726915	GM12891	blood:	n/a

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:10573337..10575488-chr1:10723481..10725688,2	K562	blood:
2	chr1:10689513..10692457-chr1:10716597..10719078,2	K562	blood:
3	chr1:10716711..10719662-chr1:10722945..10725596,2	MCF-7	breast:
4	chr1:10716711..10719662-chr1:10722945..10725596,2	MCF-7	breast:
5	chr1:10717594..10722225-chr1:10722686..10725044,4	K562	blood:
6	chr1:10709667..10713053-chr1:10713684..10716975,4	K562	blood:
7	chr1:10703902..10706642-chr1:10707587..10709773,5	K562	blood:
8	chr1:10703132..10705545-chr1:10711056..10713011,2	K562	blood:
9	chr1:10725635..10727609-chr1:10737981..10739512,2	K562	blood:
10	chr1:10708228..10710600-chr1:10848696..10851530,2	K562	blood:
11	chr1:10707592..10708112-chr17:41465690..41466290,3	NB4	blood:
12	chr1:10703132..10705545-chr1:10711056..10713011,2	K562	blood:
13	chr1:10703574..10707168-chr1:10709558..10711927,3	MCF-7	breast:
14	chr1:10715958..10718705-chr1:10751486..10753340,2	K562	blood:
15	chr1:10711257..10713486-chr1:10721428..10724018,2	MCF-7	breast:
16	chr1:10708501..10711105-chr1:10716325..10718436,2	K562	blood:
17	chr1:10567638..10569716-chr1:10700234..10702656,2	K562	blood:
18	chr1:10698341..10701476-chr1:10701646..10704585,3	MCF-7	breast:
19	chr1:10723769..10726210-chr1:10728292..10729827,2	MCF-7	breast:
20	chr1:10712004..10714801-chr1:10852157..10855382,3	MCF-7	breast:
21	chr1:10717765..10719511-chr1:10863932..10866703,2	K562	blood:
22	chr1:10725435..10726303-chr1:10810964..10811494,2	MCF-7	breast:
23	chr1:10709257..10711552-chr1:10722180..10724225,2	K562	blood:
24	chr1:10694311..10696932-chr1:10702215..10704200,2	K562	blood:
25	chr1:10712754..10714859-chr1:10715847..10719174,3	MCF-7	breast:
26	chr1:10712754..10714859-chr1:10715847..10719174,3	MCF-7	breast:
27	chr1:10705750..10708723-chr1:10731868..10733988,2	K562	blood:
28	chr1:10685500..10687497-chr1:10695365..10698289,2	K562	blood:
29	chr1:10698140..10700728-chr1:10703080..10705863,3	K562	blood:
30	chr1:10715834..10717814-chr1:10789112..10791954,2	K562	blood:
31	chr1:10708501..10711105-chr1:10716325..10718436,2	K562	blood:
32	chr1:10703574..10707168-chr1:10709558..10711927,3	MCF-7	breast:
33	chr1:10698140..10700728-chr1:10703080..10705863,3	K562	blood:
34	chr1:10722706..10724721-chr1:10733970..10736738,2	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DFFA-6	chr1:10710541-10710812	NONHSAT000867
2	lnc-PEX14-6	chr1:10717708-10718008	uc_6_+
3	lnc-DFFA-7	chr1:10717708-10718008	uc_6_-
4	lnc-DFFA-4	chr1:10698772-10698820	NONHSAT000866
5	lnc-DFFA-6	chr1:10710998-10711157	NONHSAT000867
6	lnc-DFFA-5	chr1:10703938-10704151	uc_5_-
7	lnc-PEX14-4	chr1:10703938-10704151	uc_5_+

No data

Variant related genes	Relation type
CASZ1	TF binding region
ENSG00000272078	TF binding region
CASZ1	CpG island
ENSG00000272078	CpG island
ENSG00000188825	chromatin interactions
ENSG00000272078	chromatin interactions
ENSG00000130940	chromatin interactions

Extended variants
information (count: 1535 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:1535 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564178454	chr1:10698130-10698131	Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs528149862	chr1:10698132-10698133	Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs540361726	chr1:10698134-10698135	Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs559975152	chr1:10698165-10698166	Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs575046161	chr1:10698169-10698170	Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs530366392	chr1:10698181-10698182	Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs187980089	chr1:10698191-10698192	Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs371126309	chr1:10698194-10698195	Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs191369987	chr1:10698200-10698201	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs555684	chr1:10698218-10698219	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs546022463	chr1:10698223-10698224	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs148704981	chr1:10698224-10698225	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs373225643	chr1:10698239-10698240	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs564213932	chr1:10698251-10698252	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs546365765	chr1:10698259-10698260	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs552312055	chr1:10698287-10698288	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs571252771	chr1:10698307-10698308	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs570852916	chr1:10698310-10698311	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs534779019	chr1:10698342-10698343	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs553092606	chr1:10698353-10698354	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs2624879	chr1:10698363-10698364	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs567866272	chr1:10698387-10698388	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs2765547	chr1:10698388-10698389	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs35742428	chr1:10698427-10698428	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs2765546	chr1:10698432-10698433	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs183510698	chr1:10698434-10698435	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs61776293	chr1:10698442-10698443	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs187800579	chr1:10698486-10698487	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs539747065	chr1:10698537-10698538	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs557449944	chr1:10698574-10698575	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs572915578	chr1:10698575-10698576	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs540325689	chr1:10698592-10698593	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs12752101	chr1:10698598-10698599	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs575048504	chr1:10698600-10698601	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs542077214	chr1:10698615-10698616	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs573123801	chr1:10698666-10698667	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs192318338	chr1:10698696-10698697	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs531090022	chr1:10698698-10698699	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs541044162	chr1:10698732-10698733	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs559754422	chr1:10698816-10698817	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
41	rs369023656	chr1:10698913-10698914	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs552869019	chr1:10698928-10698929	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs530132813	chr1:10698968-10698969	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs564314813	chr1:10698974-10698975	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs184511437	chr1:10699066-10699067	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs201658768	chr1:10699125-10699126	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs201089181	chr1:10699141-10699142	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs201499143	chr1:10699149-10699150	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs528469854	chr1:10699167-10699168	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs546647724	chr1:10699179-10699180	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	22429812	CNVD
Epilepsy	22118685	CNVD
Schizophrenia	22118685	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	19490664	CNVD
Ewing''s sarcoma	21437220	CNVD
Prader-willi syndrome	18797701	CNVD
periventricular nodular heterotopia	20648244	CNVD
1p36 deletion syndrome	22283845	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Neuroblastoma	18923524	CNVD
Retinoblastoma	22278416	CNVD
Mental retardation	20152051	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Astrocytoma	17934521	CNVD
Glioblastoma	20031968	CNVD
Acute myeloid leukemia	18000384	CNVD
Glioblastoma multiforme	16951158	CNVD
Neuroblastoma	18574593	CNVD
Glioblastoma multiforme	17369134	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Myoepithelioma	18604193	CNVD
Wilms tumour	19047088	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Neuroblastoma	18923191	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21138945	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian neoplasms	16753589	CNVD
Neuroblastoma	19287153	CNVD
Hepatocellular carcinoma	18929564	CNVD
Melanoma	17363583	CNVD
renal disease	17924346	CNVD
Uveal melanoma	20484589	CNVD
Multiple myeloma	16616336	CNVD
Glioblastoma multiforme	22286061	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	20808228	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1189 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10651600-10715800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:10685200-10699400	Weak transcription	Aorta	Aorta
3	chr1:10691600-10703000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr1:10691600-10706000	Weak transcription	Dnd41	blood
5	chr1:10692400-10699400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:10692600-10698400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:10693200-10699400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:10694400-10699400	Weak transcription	Liver	Liver
9	chr1:10694600-10698400	Weak transcription	NHLF	lung
10	chr1:10695400-10698200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:10695800-10700400	Strong transcription	Fetal Intestine Small	intestine
12	chr1:10696000-10699400	Weak transcription	Pancreas	Pancrea
13	chr1:10696000-10699600	Weak transcription	Fetal Heart	heart
14	chr1:10696200-10698200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr1:10696200-10698400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr1:10696200-10698600	Weak transcription	Left Ventricle	heart
17	chr1:10696200-10704000	Weak transcription	HSMMtube	muscle
18	chr1:10696400-10698200	Weak transcription	Right Atrium	heart
19	chr1:10696400-10698200	Weak transcription	Right Ventricle	heart
20	chr1:10696400-10699600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr1:10696600-10698200	Weak transcription	Psoas Muscle	Psoas
22	chr1:10696600-10698600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:10696600-10698800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:10696600-10699400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:10696800-10698400	Enhancers	NHEK	skin
26	chr1:10697200-10698200	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr1:10697200-10698400	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr1:10697400-10698200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:10697400-10698200	Bivalent Enhancer	Placenta	Placenta
30	chr1:10697400-10698400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:10697400-10698400	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr1:10697400-10698400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr1:10697400-10698400	Bivalent Enhancer	Fetal Stomach	stomach
34	chr1:10697400-10700800	Strong transcription	Gastric	stomach
35	chr1:10697400-10722000	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr1:10697600-10698200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr1:10697600-10698200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:10697600-10698200	Bivalent Enhancer	Fetal Thymus	thymus
39	chr1:10697600-10698200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr1:10697600-10698400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr1:10697600-10698400	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr1:10697600-10698600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
43	chr1:10697600-10698600	Bivalent Enhancer	Colonic Mucosa	Colon
44	chr1:10697600-10698600	ZNF genes & repeats	Fetal Intestine Large	intestine
45	chr1:10697600-10698800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr1:10697600-10698800	Genic enhancers	Lung	lung
47	chr1:10697800-10698200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:10697800-10698200	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr1:10697800-10698200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr1:10697800-10698200	Weak transcription	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links