Variant report

Variant	esv3374448
Chromosome Location	chr1:10752890-10756738
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:175)
CpG islands
(count:428)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:175 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr1:10754909-10755258	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr1:10753920-10754204	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr1:10753514-10753789	GM12878	blood:	n/a	n/a
4	BRCA1	chr1:10753973-10754071	HepG2	liver:	n/a	chr1:10754024-10754033
5	BRCA1	chr1:10753893-10754093	Hela-S3	cervix:	n/a	chr1:10754024-10754033
6	CCNT2	chr1:10753915-10755167	K562	blood:	n/a	n/a
7	CEBPB	chr1:10753657-10753780	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr1:10754305-10754339	Hela-S3	cervix:	n/a	n/a
9	CHD2	chr1:10753927-10754106	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr1:10753965-10754092	GM12878	blood:	n/a	n/a
11	CHD2	chr1:10753870-10754173	HepG2	liver:	n/a	n/a
12	CHD2	chr1:10753888-10754200	K562	blood:	n/a	n/a
13	CHD2	chr1:10753869-10754174	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr1:10753860-10754010	AG09319	gingival:	n/a	chr1:10753982-10753991
15	CTCF	chr1:10753900-10754050	BJ	skin:	n/a	chr1:10753982-10753991
16	CTCF	chr1:10753920-10754070	AG04449	skin:	n/a	chr1:10753982-10753991
17	CTCF	chr1:10754380-10754530	GM12864	blood:	n/a	n/a
18	CTCF	chr1:10752386-10753100	A549	lung:	n/a	chr1:10752604-10752622 chr1:10752607-10752616
19	CTCF	chr1:10754200-10754350	GM12867	blood:	n/a	n/a
20	CTCF	chr1:10753860-10754010	AG10803	skin:	n/a	chr1:10753982-10753991
21	CTCF	chr1:10754426-10754539	Pancreas_OC	pancreas:	n/a	n/a
22	CTCF	chr1:10753860-10754010	SAEC	small airway:	n/a	chr1:10753982-10753991
23	CTCF	chr1:10754172-10754196	Lung_OC	lung:	n/a	n/a
24	CTCF	chr1:10753880-10754030	HCPEpiC	choroid plexus:	n/a	chr1:10753982-10753991
25	CTCF	chr1:10753840-10753990	HEEpiC	esophagus:	n/a	n/a
26	CTCF	chr1:10753920-10754070	HUVEC	blood vessel:	n/a	chr1:10753982-10753991
27	CTCF	chr1:10753840-10753990	GM12866	blood:	n/a	n/a
28	CTCF	chr1:10754833-10754895	Spleen_OC	spleen:	n/a	n/a
29	CTCF	chr1:10752288-10752915	SK-N-SH	brain:	n/a	chr1:10752604-10752622 chr1:10752607-10752616
30	CTCF	chr1:10753880-10754030	HEEpiC	esophagus:	n/a	chr1:10753982-10753991
31	CTCF	chr1:10753900-10754050	HMEC	breast:	n/a	chr1:10753982-10753991
32	CTCF	chr1:10752431-10752897	MCF-7	breast:	n/a	chr1:10752604-10752622 chr1:10752607-10752616
33	CTCF	chr1:10753880-10754030	SK-N-SH_RA	brain:	n/a	chr1:10753982-10753991
34	CTCF	chr1:10753860-10754010	HEK293	kidney:	n/a	chr1:10753982-10753991
35	CTCF	chr1:10753900-10754050	SK-N-SH_RA	brain:	n/a	chr1:10753982-10753991
36	CTCF	chr1:10753840-10753990	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr1:10753860-10754010	BJ	skin:	n/a	chr1:10753982-10753991
38	CTCF	chr1:10752740-10752890	RPTEC	kidney:	n/a	n/a
39	CTCF	chr1:10753820-10753970	GM12874	blood:	n/a	n/a
40	E2F4	chr1:10754405-10755020	MCF10A-Er-Src	breast:	n/a	chr1:10754841-10754850
41	E2F6	chr1:10754696-10755180	K562	blood:	n/a	chr1:10754841-10754850
42	E2F6	chr1:10753979-10754175	K562	blood:	n/a	chr1:10754123-10754132
43	E2F6	chr1:10753866-10754371	K562	blood:	n/a	chr1:10754123-10754132 chr1:10754169-10754178
44	EBF1	chr1:10754335-10754629	GM12878	blood:	n/a	n/a
45	EGR1	chr1:10755132-10755397	K562	blood:	n/a	chr1:10755223-10755233
46	EGR1	chr1:10754214-10754614	K562	blood:	n/a	n/a
47	EGR1	chr1:10755108-10755372	K562	blood:	n/a	chr1:10755223-10755233
48	EGR1	chr1:10754645-10754914	K562	blood:	n/a	chr1:10754836-10754849
49	EGR1	chr1:10754258-10754584	K562	blood:	n/a	n/a
50	EGR1	chr1:10754655-10754957	K562	blood:	n/a	chr1:10754836-10754849

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:10753832-10753882	PrEC	prostate:	n/a
2	chr1:10753832-10753882	PrEC	prostate:	n/a
3	chr1:10753832-10753882	BJ	skin:	n/a
4	chr1:10755322-10755372	MCF-7	breast:	n/a
5	chr1:10755322-10755372	GM19239	blood:	n/a
6	chr1:10755341-10755391	HCM	heart:	n/a
7	chr1:10755341-10755391	AG09309	skin:	n/a
8	chr1:10753774-10753824	SAEC	small airway:	n/a
9	chr1:10754156-10754206	GM19239	blood:	n/a
10	chr1:10753832-10753882	GM06990	blood:	n/a
11	chr1:10753774-10753824	BE2_C	brain:	n/a
12	chr1:10754891-10754941	BJ	skin:	n/a
13	chr1:10755341-10755391	HEEpiC	esophagus:	n/a
14	chr1:10754891-10754941	U87	brain:	n/a
15	chr1:10753774-10753824	HMEC	breast:	n/a
16	chr1:10754891-10754941	SK-N-SH	brain:	n/a
17	chr1:10755341-10755391	PrEC	prostate:	n/a
18	chr1:10754891-10754941	NHBE	bronchial:	n/a
19	chr1:10754156-10754206	SK-N-SH	brain:	n/a
20	chr1:10755322-10755372	SK-N-MC	brain:	n/a
21	chr1:10755322-10755372	NH-A	brain:	n/a
22	chr1:10753774-10753824	SK-N-SH	brain:	n/a
23	chr1:10753832-10753882	HEEpiC	esophagus:	n/a
24	chr1:10753774-10753824	SK-N-MC	brain:	n/a
25	chr1:10755341-10755391	RPTEC	kidney:	n/a
26	chr1:10753774-10753824	AG10803	skin:	n/a
27	chr1:10753774-10753824	HRPEpiC	eye:	n/a
28	chr1:10755322-10755372	AoSMC	blood vessel:	n/a
29	chr1:10754156-10754206	MCF-7	breast:	n/a
30	chr1:10755341-10755391	HCT-116	colon:	n/a
31	chr1:10754162-10754212	HCPEpiC	choroid plexus:	n/a
32	chr1:10754891-10754941	AG09319	gingival:	n/a
33	chr1:10754162-10754212	SAEC	small airway:	n/a
34	chr1:10755341-10755391	NHBE	bronchial:	n/a
35	chr1:10755341-10755391	PANC-1	pancreas:	n/a
36	chr1:10755341-10755391	HCPEpiC	choroid plexus:	n/a
37	chr1:10753774-10753824	H1-hESC	embryonic stem cell:	embryo
38	chr1:10753774-10753824	ECC-1	luminal epithelium:	n/a
39	chr1:10754891-10754941	SKMC	muscle:	n/a
40	chr1:10753832-10753882	NHBE	bronchial:	n/a
41	chr1:10755341-10755391	SKMC	muscle:	n/a
42	chr1:10753832-10753882	Caco-2	colon:	n/a
43	chr1:10753832-10753882	PANC-1	pancreas:	n/a
44	chr1:10754156-10754206	Caco-2	colon:	n/a
45	chr1:10753774-10753824	AG09319	gingival:	n/a
46	chr1:10754162-10754212	HRPEpiC	eye:	n/a
47	chr1:10753832-10753882	MCF-7	breast:	n/a
48	chr1:10753832-10753882	K562	blood:	n/a
49	chr1:10753832-10753882	SK-N-MC	brain:	n/a
50	chr1:10753832-10753882	HUVEC	blood vessel:	n/a

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:10742610..10744196-chr1:10755434..10757046,2	K562	blood:
2	chr1:10753843..10754435-chr17:37356222..37356754,2	Hela-S3	cervix:
3	chr1:10715958..10718705-chr1:10751486..10753340,2	K562	blood:
4	chr1:10752976..10755910-chr1:10763152..10766470,3	MCF-7	breast:
5	chr1:10752376..10753024-chr1:10896001..10896596,2	MCF-7	breast:
6	chr1:10755955..10758112-chr1:10760865..10764378,3	K562	blood:
7	chr1:10754807..10756455-chr1:10925799..10928452,2	MCF-7	breast:
8	chr1:10750672..10753941-chr1:10753970..10757109,4	K562	blood:
9	chr1:10756523..10758997-chr1:10766760..10768325,2	K562	blood:
10	chr1:10752107..10753101-chr1:10848408..10849120,2	MCF-7	breast:
11	chr1:10589102..10590636-chr1:10751361..10753054,2	MCF-7	breast:
12	chr1:10490627..10493070-chr1:10755495..10757962,2	MCF-7	breast:
13	chr1:10597953..10600122-chr1:10755934..10757500,2	K562	blood:
14	chr1:10750259..10753196-chr1:10853460..10855878,3	MCF-7	breast:
15	chr1:10754244..10754954-chr1:32645198..32646026,2	NB4	blood:
16	chr1:10752434..10753364-chr1:11001891..11002517,2	MCF-7	breast:
17	chr1:10751847..10753495-chr1:10763556..10766439,2	K562	blood:
18	chr1:10754753..10757262-chr1:10761899..10764106,2	MCF-7	breast:
19	chr1:10744767..10746959-chr1:10754994..10757049,2	K562	blood:
20	chr1:10752290..10752910-chr1:10811240..10811848,2	MCF-7	breast:
21	chr1:10755720..10757634-chr1:10782788..10785288,3	K562	blood:
22	chr1:10744408..10746422-chr1:10754548..10756295,2	MCF-7	breast:

No data

Variant related genes	Relation type
CASZ1	TF binding region
CASZ1	CpG island
ENSG00000271989	chromatin interactions
ENSG00000130940	chromatin interactions
ENSG00000108298	chromatin interactions
ENSG00000084652	chromatin interactions
ENSG00000175279	chromatin interactions
ENSG00000251503	chromatin interactions

Extended variants
information (count: 109 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182015835	chr1:10752900-10752901	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs549871847	chr1:10752956-10752957	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs186513520	chr1:10752959-10752960	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs568275718	chr1:10752963-10752964	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs60449700	chr1:10752990-10752991	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs576189293	chr1:10753017-10753018	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs537252866	chr1:10753018-10753019	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs72860122	chr1:10753030-10753031	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs114024231	chr1:10753032-10753033	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs190502861	chr1:10753062-10753063	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs553811862	chr1:10753070-10753071	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs59304342	chr1:10753094-10753095	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs574910456	chr1:10753118-10753119	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs142453372	chr1:10753143-10753144	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs560106179	chr1:10753161-10753162	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs181755888	chr1:10753172-10753173	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs530719917	chr1:10753179-10753180	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs186780255	chr1:10753201-10753202	Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs564207885	chr1:10753288-10753289	Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs75358163	chr1:10753364-10753365	Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs546599699	chr1:10753381-10753382	Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs568013803	chr1:10753432-10753433	Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs191371791	chr1:10753458-10753459	Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs72641469	chr1:10753493-10753494	Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs182474001	chr1:10753495-10753496	Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs537240647	chr1:10753513-10753514	Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs12745501	chr1:10753553-10753554	Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs200917996	chr1:10753554-10753555	Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs371374901	chr1:10753581-10753582	Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs501287	chr1:10753584-10753585	Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs201574796	chr1:10753593-10753594	Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs147127872	chr1:10753594-10753595	Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs11584137	chr1:10753651-10753652	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs72641470	chr1:10753713-10753714	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs559143232	chr1:10753775-10753776	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs577448819	chr1:10753799-10753800	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs535302050	chr1:10753824-10753825	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs553397968	chr1:10753832-10753833	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs574836543	chr1:10753834-10753835	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs369295463	chr1:10753880-10753881	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs372487900	chr1:10753912-10753913	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs201782753	chr1:10753933-10753934	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs200271122	chr1:10753976-10753977	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs370348923	chr1:10753985-10753986	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs375457931	chr1:10753986-10753987	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs185185302	chr1:10753989-10753990	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs575842048	chr1:10753993-10753994	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs370880244	chr1:10753998-10753999	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs74052166	chr1:10754056-10754057	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs564277523	chr1:10754107-10754108	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:113)

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
Autism	20808228	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD

Chromatin state (count:481 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10722800-10753000	Weak transcription	Primary T cells from cord blood	blood
2	chr1:10738000-10753400	Enhancers	Stomach Mucosa	stomach
3	chr1:10738800-10753000	Enhancers	Left Ventricle	heart
4	chr1:10741800-10753600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:10741800-10753600	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr1:10742400-10753200	Enhancers	Psoas Muscle	Psoas
7	chr1:10745000-10753400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr1:10747000-10753800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:10747800-10753000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:10747800-10753600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:10748000-10753400	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr1:10748200-10753200	Weak transcription	HSMMtube	muscle
13	chr1:10748400-10753600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:10748800-10753200	Weak transcription	Aorta	Aorta
15	chr1:10749200-10753200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr1:10750600-10753600	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr1:10751200-10753600	Enhancers	Primary T cells fromperipheralblood	blood
18	chr1:10751400-10753000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr1:10751400-10753000	Enhancers	Placenta	Placenta
20	chr1:10751400-10753200	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr1:10751400-10753400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:10751600-10753000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:10751600-10753400	Enhancers	Fetal Thymus	thymus
24	chr1:10751600-10753600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr1:10751800-10753200	Enhancers	Primary B cells from peripheral blood	blood
26	chr1:10752000-10753000	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr1:10752000-10753000	Enhancers	Thymus	Thymus
28	chr1:10752000-10753200	Enhancers	Primary hematopoietic stem cells	blood
29	chr1:10752000-10753400	Enhancers	Primary B cells from cord blood	blood
30	chr1:10752000-10753400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:10752000-10753400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr1:10752000-10753400	Flanking Active TSS	GM12878-XiMat	blood
33	chr1:10752000-10753400	Flanking Active TSS	HepG2	liver
34	chr1:10752000-10753600	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr1:10752000-10753600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr1:10752000-10755600	Active TSS	Colon Smooth Muscle	Colon
37	chr1:10752200-10753000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr1:10752200-10753000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr1:10752200-10753000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:10752200-10753000	Enhancers	Fetal Lung	lung
41	chr1:10752200-10753200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr1:10752200-10753200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:10752200-10753200	Bivalent Enhancer	Fetal Muscle Leg	muscle
44	chr1:10752200-10753200	Enhancers	HMEC	breast
45	chr1:10752200-10753400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr1:10752200-10753400	Flanking Active TSS	Fetal Intestine Small	intestine
47	chr1:10752200-10753600	Enhancers	Adipose Nuclei	Adipose
48	chr1:10752200-10753600	Weak transcription	K562	blood
49	chr1:10752400-10753000	Enhancers	Dnd41	blood
50	chr1:10752400-10753200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links