Variant report

Variant	rs370348923
Chromosome Location	chr1:10753985-10753986
allele	C/T
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	CTCF	chr1:10753900-10754050	SK-N-SH_RA	brain:	n/a	chr1:10753982-10753991
2	MAZ	chr1:10753972-10754288	Hela-S3	cervix:	n/a	n/a
3	TCF7L2	chr1:10753546-10754140	PANC-1	pancreas:	n/a	n/a
4	SMC3	chr1:10753907-10754025	Hela-S3	cervix:	n/a	chr1:10753981-10753995 chr1:10753981-10753988
5	CHD2	chr1:10753870-10754173	HepG2	liver:	n/a	n/a
6	CTCF	chr1:10753860-10754010	AG09319	gingival:	n/a	chr1:10753982-10753991
7	RFX5	chr1:10753937-10754063	Hela-S3	cervix:	n/a	n/a
8	SIN3A	chr1:10753763-10754603	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD2	chr1:10753869-10754174	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr1:10753821-10754045	GM12878	blood:	n/a	n/a
11	UBTF	chr1:10753780-10754994	K562	blood:	n/a	n/a
12	SIN3AK20	chr1:10753874-10754288	PANC-1	pancreas:	n/a	n/a
13	CHD2	chr1:10753965-10754092	GM12878	blood:	n/a	n/a
14	RUNX3	chr1:10753501-10754045	GM12878	blood:	n/a	n/a
15	TCF7L2	chr1:10753529-10754137	Hela-S3	cervix:	n/a	n/a
16	MAZ	chr1:10753521-10755010	GM12878	blood:	n/a	chr1:10753836-10753846
17	MAX	chr1:10753880-10754157	NB4	blood:	n/a	n/a
18	CTCF	chr1:10753860-10754010	AG10803	skin:	n/a	chr1:10753982-10753991
19	CTCF	chr1:10753860-10754010	HEK293	kidney:	n/a	chr1:10753982-10753991
20	POLR2A	chr1:10753704-10754135	GM12878	blood:	n/a	n/a
21	ZBTB7A	chr1:10753660-10754406	K562	blood:	n/a	n/a
22	CTCF	chr1:10753920-10754070	AG04449	skin:	n/a	chr1:10753982-10753991
23	POLR2A	chr1:10753846-10754249	GM12878	blood:	n/a	n/a
24	IRF1	chr1:10753796-10754076	K562	blood:	n/a	chr1:10753889-10753901 chr1:10753890-10753900 chr1:10753890-10753901 chr1:10753886-10753900 chr1:10753889-10753901 chr1:10753890-10753904
25	CTCF	chr1:10753840-10753990	GM12866	blood:	n/a	n/a
26	RCOR1	chr1:10753841-10754141	K562	blood:	n/a	n/a
27	CTCF	chr1:10753920-10754070	HUVEC	blood vessel:	n/a	chr1:10753982-10753991
28	RCOR1	chr1:10753615-10754115	Hela-S3	cervix:	n/a	n/a
29	UBTF	chr1:10753846-10754266	K562	blood:	n/a	n/a
30	BRCA1	chr1:10753893-10754093	Hela-S3	cervix:	n/a	chr1:10754024-10754033
31	CTCF	chr1:10753880-10754030	HCPEpiC	choroid plexus:	n/a	chr1:10753982-10753991
32	MYC	chr1:10753900-10754210	NB4	blood:	n/a	n/a
33	E2F6	chr1:10753979-10754175	K562	blood:	n/a	chr1:10754123-10754132
34	MAX	chr1:10753812-10754344	K562	blood:	n/a	chr1:10753836-10753846
35	POLR2A	chr1:10753826-10754182	K562	blood:	n/a	n/a
36	RCOR1	chr1:10753344-10754139	GM12878	blood:	n/a	n/a
37	HDAC2	chr1:10753944-10754188	K562	blood:	n/a	n/a
38	CTCF	chr1:10753900-10754050	HMEC	breast:	n/a	chr1:10753982-10753991
39	GABPA	chr1:10753915-10754269	H1-hESC	embryonic stem cell:	n/a	chr1:10754126-10754135
40	ELK1	chr1:10753962-10754028	GM12878	blood:	n/a	n/a
41	CTCF	chr1:10753880-10754030	SK-N-SH_RA	brain:	n/a	chr1:10753982-10753991
42	CTCF	chr1:10753860-10754010	BJ	skin:	n/a	chr1:10753982-10753991
43	MXI1	chr1:10753888-10754121	GM12878	blood:	n/a	n/a
44	CTCF	chr1:10753840-10753990	HEEpiC	esophagus:	n/a	n/a
45	YY1	chr1:10753834-10754236	K562	blood:	n/a	chr1:10754123-10754132 chr1:10753835-10753844 chr1:10754038-10754052 chr1:10754147-10754161 chr1:10754169-10754178
46	POLR2A	chr1:10753905-10753990	GM12878	blood:	n/a	n/a
47	MAZ	chr1:10753586-10755526	IMR90	lung:	n/a	chr1:10753836-10753846
48	ELF1	chr1:10753807-10754088	K562	blood:	n/a	chr1:10753828-10753840
49	CTCF	chr1:10753840-10753990	Hela-S3	cervix:	n/a	n/a
50	ELF1	chr1:10753858-10754116	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10753843..10754435-chr17:37356222..37356754,2	Hela-S3	cervix:
2	chr1:10752976..10755910-chr1:10763152..10766470,3	MCF-7	breast:

Variant related genes	Relation type
CASZ1	TF binding region
ENSG00000130940	Chromatin interaction
ENSG00000108298	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv464394	chr1:10673094-10767902	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv545396	chr1:10673094-10767902	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv1828181	chr1:10673130-10829937	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv464505	chr1:10673194-10767785	Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv545397	chr1:10673194-10767785	Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv464616	chr1:10673194-10767902	Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv545398	chr1:10673194-10767902	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv464727	chr1:10673194-10777260	Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv545399	chr1:10673194-10777260	Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv1004063	chr1:10675978-10780682	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv1014003	chr1:10675978-10788624	Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv1014818	chr1:10675978-10846823	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	esv29966	chr1:10676800-10874152	Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv828030	chr1:10677562-10795161	Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
16	nsv870683	chr1:10684098-10757199	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	nsv871361	chr1:10684098-10767785	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv871290	chr1:10684098-10777260	Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
19	nsv871191	chr1:10684098-10796866	Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
20	nsv464838	chr1:10684098-10842021	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
21	nsv545400	chr1:10684098-10842021	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
22	nsv1015054	chr1:10688713-10780682	Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
23	nsv1006689	chr1:10688713-10822684	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
24	nsv871478	chr1:10689942-10766466	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
25	nsv464949	chr1:10690948-10757199	Bivalent Enhancer Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
26	nsv545401	chr1:10690948-10757199	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
27	nsv465061	chr1:10690948-10796866	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
28	nsv545402	chr1:10690948-10796866	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
29	nsv871070	chr1:10690948-10796866	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
30	nsv871737	chr1:10693294-10757199	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
31	nsv870460	chr1:10694125-10757199	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
32	nsv870923	chr1:10694125-10801585	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
33	nsv525693	chr1:10694125-10840905	Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
34	nsv870849	chr1:10694125-10894724	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
35	nsv529981	chr1:10697093-11353487	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
36	nsv828364	chr1:10697810-10764164	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
37	nsv1007215	chr1:10698017-10760807	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
38	nsv534860	chr1:10698017-10760807	Flanking Active TSS Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
39	nsv1013429	chr1:10698017-10788624	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
40	nsv1007225	chr1:10703941-10788624	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
41	nsv1002618	chr1:10703941-10822684	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
42	nsv1014705	chr1:10703941-10840824	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
43	nsv871904	chr1:10704688-10757199	Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
44	nsv832314	chr1:10704811-10859919	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
45	nsv871469	chr1:10710255-10801585	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
46	nsv534861	chr1:10727224-10768604	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
47	esv2757723	chr1:10742502-11055147	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
48	esv2758921	chr1:10742502-11055147	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
49	esv3374448	chr1:10752890-10756738	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
50	nsv8546	chr1:10752927-10756767	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10752000-10755600	Active TSS	Colon Smooth Muscle	Colon
2	chr1:10752800-10754600	Bivalent/Poised TSS	Fetal Stomach	stomach
3	chr1:10752800-10755400	Active TSS	Lung	lung
4	chr1:10752800-10755400	Active TSS	Small Intestine	intestine
5	chr1:10752800-10755800	Active TSS	Rectal Smooth Muscle	rectum
6	chr1:10753000-10754000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr1:10753000-10754600	Active TSS	Fetal Kidney	kidney
8	chr1:10753000-10755400	Active TSS	Esophagus	oesophagus
9	chr1:10753000-10755400	Active TSS	Right Atrium	heart
10	chr1:10753000-10755600	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr1:10753200-10754600	Active TSS	Placenta	Placenta
12	chr1:10753200-10754600	Active TSS	HSMMtube	muscle
13	chr1:10753200-10755000	Weak transcription	Fetal Heart	heart
14	chr1:10753200-10755200	Active TSS	Psoas Muscle	Psoas
15	chr1:10753200-10755200	Active TSS	Stomach Smooth Muscle	stomach
16	chr1:10753200-10755600	Active TSS	Aorta	Aorta
17	chr1:10753200-10755800	Active TSS	HSMM	muscle
18	chr1:10753400-10754200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr1:10753400-10754200	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr1:10753400-10754200	Active TSS	Stomach Mucosa	stomach
21	chr1:10753400-10754400	Bivalent Enhancer	Fetal Brain Male	brain
22	chr1:10753400-10755200	Active TSS	Colonic Mucosa	Colon
23	chr1:10753400-10755200	Active TSS	HepG2	liver
24	chr1:10753400-10755400	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr1:10753400-10755400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:10753400-10755400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:10753400-10755400	Active TSS	Duodenum Mucosa	Duodenum
28	chr1:10753400-10755400	Active TSS	Fetal Intestine Large	intestine
29	chr1:10753400-10755400	Active TSS	Fetal Intestine Small	intestine
30	chr1:10753400-10755400	Active TSS	Left Ventricle	heart
31	chr1:10753400-10755400	Active TSS	Right Ventricle	heart
32	chr1:10753400-10755600	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr1:10753400-10755600	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr1:10753400-10755600	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr1:10753400-10755600	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr1:10753400-10755600	Active TSS	GM12878-XiMat	blood
37	chr1:10753400-10755600	Active TSS	HUVEC	blood vessel
38	chr1:10753600-10754000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
39	chr1:10753600-10754000	Active TSS	Primary hematopoietic stem cells	blood
40	chr1:10753600-10754000	Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr1:10753600-10754000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr1:10753600-10754200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
43	chr1:10753600-10754200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
44	chr1:10753600-10754200	Active TSS	Brain Substantia Nigra	brain
45	chr1:10753600-10754600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr1:10753600-10754600	Active TSS	Liver	Liver
47	chr1:10753600-10754600	Active TSS	Fetal Lung	lung
48	chr1:10753600-10754600	Active TSS	Fetal Muscle Trunk	muscle
49	chr1:10753600-10755000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:10753600-10755000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links