Variant report

Variant	rs72997792
Chromosome Location	chr1:145727009-145727010
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr1:145726274-145727097	MCF-7	breast:	n/a	chr1:145726832-145726843
2	EP300	chr1:145726072-145727920	MCF-7	breast:	n/a	chr1:145727808-145727822 chr1:145727814-145727828 chr1:145727059-145727073
3	ZNF217	chr1:145726439-145727070	MCF-7	breast:	n/a	n/a
4	HDAC2	chr1:145726209-145727990	MCF-7	breast:	n/a	chr1:145727055-145727069 chr1:145727805-145727819 chr1:145727662-145727670 chr1:145727809-145727823 chr1:145727820-145727834
5	BRCA1	chr1:145726870-145727219	HepG2	liver:	n/a	n/a
6	TEAD4	chr1:145726269-145727065	MCF-7	breast:	n/a	n/a
7	GATA3	chr1:145726178-145727948	MCF-7	breast:	n/a	chr1:145727810-145727820 chr1:145726563-145726580
8	GATA2	chr1:145726557-145727219	SH-SY5Y	brain:	n/a	chr1:145726563-145726580
9	GATA3	chr1:145726315-145727048	MCF-7	breast:	n/a	chr1:145726563-145726580
10	MAX	chr1:145726150-145728976	MCF-7	breast:	n/a	n/a
11	CTCF	chr1:145726960-145727110	GM12873	blood:	n/a	n/a
12	EGR1	chr1:145726252-145727857	MCF-7	breast:	n/a	n/a
13	TCF12	chr1:145726244-145727195	MCF-7	breast:	n/a	n/a
14	ZEB1	chr1:145726403-145728299	HepG2	liver:	n/a	chr1:145727689-145727696 chr1:145727046-145727053
15	SIN3AK20	chr1:145726254-145727213	MCF-7	breast:	n/a	n/a
16	NR2F2	chr1:145726258-145727198	MCF-7	breast:	n/a	n/a
17	EGR1	chr1:145726399-145727032	MCF-7	breast:	n/a	n/a
18	ESR1	chr1:145726362-145727010	T-47D	breast:	n/a	chr1:145726710-145726725
19	JUND	chr1:145726265-145727139	T-47D	breast:	n/a	chr1:145726832-145726843
20	GATA3	chr1:145726365-145727021	T-47D	breast:	n/a	chr1:145726563-145726580
21	NR2F2	chr1:145726172-145728094	MCF-7	breast:	n/a	n/a
22	GATA3	chr1:145726691-145727056	SH-SY5Y	brain:	n/a	n/a
23	JUND	chr1:145726273-145727144	MCF-7	breast:	n/a	chr1:145726832-145726843
24	CEBPB	chr1:145726247-145727150	MCF-7	breast:	n/a	n/a
25	FOXM1	chr1:145726224-145727242	MCF-7	breast:	n/a	n/a
26	TCF12	chr1:145725924-145727288	MCF-7	breast:	n/a	chr1:145727189-145727199
27	FOXM1	chr1:145726168-145727983	MCF-7	breast:	n/a	n/a
28	POLR2A	chr1:145726677-145727896	HepG2	liver:	n/a	n/a
29	HDAC2	chr1:145726186-145727059	MCF-7	breast:	n/a	n/a
30	HEY1	chr1:145726612-145727989	HepG2	liver:	n/a	n/a
31	SIN3AK20	chr1:145726236-145728039	MCF-7	breast:	n/a	n/a
32	ELF1	chr1:145726188-145727963	MCF-7	breast:	n/a	n/a
33	EP300	chr1:145726263-145727185	MCF-7	breast:	n/a	chr1:145727059-145727073
34	GATA3	chr1:145726059-145727455	MCF-7	breast:	n/a	chr1:145726563-145726580
35	GABPA	chr1:145726203-145727187	MCF-7	breast:	n/a	n/a
36	TEAD4	chr1:145726357-145727081	MCF-7	breast:	n/a	n/a
37	TCF7L2	chr1:145726491-145727019	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:145726979-145727029	HAEpiC	amniotic membrane:	n/a
2	chr1:145726979-145727029	HepG2	liver:	n/a
3	chr1:145726979-145727029	HCPEpiC	choroid plexus:	n/a
4	chr1:145726979-145727029	Hepatocyte	liver:	n/a
5	chr1:145726979-145727029	U87	brain:	n/a
6	chr1:145726979-145727029	HRCEpiC	kidney:	n/a
7	chr1:145726979-145727029	A549	lung:	n/a
8	chr1:145726979-145727029	NHBE	bronchial:	n/a
9	chr1:145726979-145727029	HUVEC	blood vessel:	n/a
10	chr1:145726979-145727029	GM06990	blood:	n/a
11	chr1:145726979-145727029	SK-N-MC	brain:	n/a
12	chr1:145726979-145727029	ovcar-3	ovarian:	n/a
13	chr1:145726979-145727029	SK-N-SH	brain:	n/a
14	chr1:145726979-145727029	PFSK-1	brain:	n/a
15	chr1:145726979-145727029	HMEC	breast:	n/a
16	chr1:145726979-145727029	PANC-1	pancreas:	n/a
17	chr1:145726979-145727029	T-47D	breast:	n/a
18	chr1:145726979-145727029	Caco-2	colon:	n/a
19	chr1:145726979-145727029	Hela-S3	cervix:	n/a
20	chr1:145726979-145727029	MCF10A-Er-Src	breast:	n/a
21	chr1:145726979-145727029	CMK	blood:	n/a
22	chr1:145726979-145727029	NH-A	brain:	n/a
23	chr1:145726979-145727029	BJ	skin:	n/a
24	chr1:145726979-145727029	LNCaP	prostate:	n/a
25	chr1:145726979-145727029	H1-hESC	embryonic stem cell:	embryo
26	chr1:145726979-145727029	HRPEpiC	eye:	n/a
27	chr1:145726979-145727029	HCF	heart:	n/a
28	chr1:145726979-145727029	AG04449	skin:	fetal
29	chr1:145726979-145727029	K562	blood:	n/a
30	chr1:145726979-145727029	AG04450	lung:	fetal
31	chr1:145726979-145727029	SK-N-SH_RA	brain:	n/a
32	chr1:145726979-145727029	SAEC	small airway:	n/a
33	chr1:145726979-145727029	Jurkat	blood:	n/a
34	chr1:145726979-145727029	AG09319	gingival:	n/a
35	chr1:145726979-145727029	AG09309	skin:	n/a
36	chr1:145726979-145727029	HEK293	kidney:	embryo
37	chr1:145726979-145727029	HNPCEpiC	eye:	n/a
38	chr1:145726979-145727029	NB4	blood:	n/a
39	chr1:145726979-145727029	HEEpiC	esophagus:	n/a
40	chr1:145726979-145727029	NHDF-neo	bronchial:	n/a
41	chr1:145726979-145727029	NT2-D1	testis:	n/a
42	chr1:145726979-145727029	RPTEC	kidney:	n/a
43	chr1:145726979-145727029	HRE	kidney:	n/a
44	chr1:145726979-145727029	HL-60	blood:	n/a
45	chr1:145726979-145727029	HCM	heart:	n/a
46	chr1:145726979-145727029	MCF-7	breast:	n/a
47	chr1:145726979-145727029	ECC-1	luminal epithelium:	n/a
48	chr1:145726979-145727029	BE2_C	brain:	n/a
49	chr1:145726979-145727029	ProgFib	skin:	n/a
50	chr1:145726979-145727029	IMR90	lung:	fetal

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:145715047..145717136-chr1:145726765..145728311,2	MCF-7	breast:
2	chr1:145723270..145733747-chr1:145739034..145747230,17	MCF-7	breast:
3	chr1:145713207..145716022-chr1:145725633..145727488,2	MCF-7	breast:
4	chr1:145715223..145716968-chr1:145725871..145728002,2	K562	blood:
5	chr1:145380635..145383784-chr1:145725921..145729985,3	MCF-7	breast:
6	chr1:145714618..145718397-chr1:145725723..145728489,4	K562	blood:

No data

Variant related genes	Relation type
PDZK1	TF binding region
PDZK1	CpG island
ENSG00000174827	Chromatin interaction
ENSG00000117281	Chromatin interaction
ENSG00000201558	Chromatin interaction
ENSG00000233396	Chromatin interaction

Extended variants
information (count: 141 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs58919508	1.00[AFR][1000 genomes]
rs60194540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60300626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60510308	1.00[AFR][1000 genomes]
rs60762832	0.81[AFR][1000 genomes]
rs72993556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72993563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72997795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72997797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72997799	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005055	chr1:144893406-145792052	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	381 gene(s)	inside rSNPs	diseases
2	nsv432720	chr1:144956393-145727683	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	363 gene(s)	inside rSNPs	diseases
3	nsv933296	chr1:144994945-145740657	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	359 gene(s)	inside rSNPs	diseases
4	nsv1013638	chr1:145172973-146012524	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
5	nsv1002731	chr1:145276259-145792052	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	327 gene(s)	inside rSNPs	diseases
6	nsv532247	chr1:145291698-146037042	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	335 gene(s)	inside rSNPs	diseases
7	nsv532393	chr1:145304668-145738275	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	325 gene(s)	inside rSNPs	diseases
8	nsv532248	chr1:145310253-145899398	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	329 gene(s)	inside rSNPs	diseases
9	nsv872224	chr1:145341400-145900678	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	329 gene(s)	inside rSNPs	diseases
10	nsv948894	chr1:145366695-145727683	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	323 gene(s)	inside rSNPs	diseases
11	nsv432731	chr1:145366956-145727956	Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	323 gene(s)	inside rSNPs	diseases
12	nsv872225	chr1:145367196-145900678	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	329 gene(s)	inside rSNPs	diseases
13	nsv918206	chr1:145372550-145792052	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	326 gene(s)	inside rSNPs	diseases
14	nsv918131	chr1:145372550-146012524	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
15	nsv1007296	chr1:145372551-145792052	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	326 gene(s)	inside rSNPs	diseases
16	nsv917908	chr1:145372551-145932457	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	329 gene(s)	inside rSNPs	diseases
17	esv2761653	chr1:145382124-145932468	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	329 gene(s)	inside rSNPs	diseases
18	nsv547654	chr1:145384225-145747463	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	163 gene(s)	inside rSNPs	diseases
19	nsv872229	chr1:145385675-145771576	Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
20	nsv872230	chr1:145385675-145789110	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
21	nsv547655	chr1:145388137-145730160	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
22	nsv532396	chr1:145388355-145746971	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
23	nsv532400	chr1:145388355-145799602	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
24	nsv532399	chr1:145388355-145825847	Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
25	nsv532398	chr1:145388355-145917640	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
26	nsv917018	chr1:145388369-145899418	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
27	nsv1001857	chr1:145388977-145743966	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
28	nsv997343	chr1:145388977-145746709	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
29	nsv535083	chr1:145388977-145746709	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
30	nsv1006753	chr1:145391749-145792052	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
31	nsv463428	chr1:145394955-145747463	Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
32	nsv463439	chr1:145394955-145747463	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
33	nsv547657	chr1:145394955-145747463	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
34	nsv547658	chr1:145394955-145776593	Bivalent/Poised TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
35	nsv547659	chr1:145394955-145780243	Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
36	nsv432742	chr1:145395604-145727956	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
37	nsv1011556	chr1:145399902-145743966	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
38	nsv1004250	chr1:145399902-145746709	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
39	esv2830397	chr1:145401238-145799743	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
40	nsv1009207	chr1:145402197-145746709	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
41	nsv933780	chr1:145413388-145740657	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
42	nsv532401	chr1:145413710-145810009	Bivalent Enhancer Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
43	nsv492193	chr1:145415156-145799615	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
44	nsv533229	chr1:145415190-145788922	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
45	nsv868842	chr1:145415190-146053471	Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
46	nsv1067589	chr1:145425195-145729525	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
47	nsv530954	chr1:145425195-145729525	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
48	nsv1067677	chr1:145425395-145799602	Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
49	nsv529541	chr1:145425395-145799602	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
50	nsv1067683	chr1:145425395-145987215	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:145715600-145728400	Weak transcription	NHLF	lung
2	chr1:145716800-145727600	Enhancers	Fetal Intestine Small	intestine
3	chr1:145719000-145727600	Enhancers	Liver	Liver
4	chr1:145723600-145728400	Weak transcription	Fetal Heart	heart
5	chr1:145723800-145727400	Weak transcription	Hela-S3	cervix
6	chr1:145724200-145727600	Weak transcription	Fetal Kidney	kidney
7	chr1:145724200-145727800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:145726000-145727200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:145726000-145727600	Enhancers	Fetal Intestine Large	intestine
10	chr1:145726200-145727600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:145726200-145728000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:145726200-145728200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:145726200-145728200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:145726200-145728400	Enhancers	Placenta Amnion	Placenta Amnion
15	chr1:145726200-145728800	Flanking Active TSS	HepG2	liver
16	chr1:145726200-145729400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:145726400-145727600	Enhancers	Duodenum Mucosa	Duodenum
18	chr1:145726400-145727600	Enhancers	GM12878-XiMat	blood
19	chr1:145726400-145728000	Enhancers	A549	lung
20	chr1:145726400-145728200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:145726400-145728200	Enhancers	Pancreas	Pancrea
22	chr1:145726400-145729600	Enhancers	HSMMtube	muscle
23	chr1:145726600-145727200	Enhancers	Small Intestine	intestine
24	chr1:145726600-145727200	Enhancers	NH-A	brain
25	chr1:145726600-145727400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr1:145726600-145727600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr1:145726600-145727800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr1:145726600-145727800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:145726600-145727800	Enhancers	Adipose Nuclei	Adipose
30	chr1:145726600-145728000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:145726600-145728200	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr1:145726600-145729000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:145726600-145729000	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr1:145726600-145729000	Enhancers	Osteobl	bone
35	chr1:145726600-145729200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:145726600-145729200	Enhancers	Muscle Satellite Cultured Cells	--
37	chr1:145726600-145729200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:145726600-145729400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:145726600-145729400	Enhancers	HMEC	breast
40	chr1:145726600-145729600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:145726800-145727400	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr1:145726800-145727400	Enhancers	Stomach Mucosa	stomach
43	chr1:145726800-145727400	Enhancers	HSMM	muscle
44	chr1:145726800-145727600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:145726800-145727600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr1:145726800-145727600	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr1:145726800-145727800	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr1:145726800-145728000	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr1:145726800-145728000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:145726800-145728400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links