Variant report

Variant	rs1967017
Chromosome Location	chr1:145723645-145723646
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:93)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:93 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR3C1	chr1:145723440-145723947	ECC-1	luminal epithelium:	n/a	n/a
2	HNF4A	chr1:145723474-145723949	HepG2	liver:	n/a	chr1:145723638-145723653 chr1:145723639-145723652 chr1:145723640-145723652 chr1:145723640-145723652
3	TEAD4	chr1:145723400-145724054	MCF-7	breast:	n/a	n/a
4	MYC	chr1:145723449-145723777	Hela-S3	cervix:	n/a	n/a
5	ZNF217	chr1:145723474-145723814	MCF-7	breast:	n/a	n/a
6	EP300	chr1:145723458-145723829	HepG2	liver:	n/a	n/a
7	FOXA1	chr1:145723461-145723937	HepG2	liver:	n/a	n/a
8	HDAC2	chr1:145723405-145723932	MCF-7	breast:	n/a	n/a
9	ARID3A	chr1:145723509-145724031	HepG2	liver:	n/a	n/a
10	FOXA2	chr1:145723477-145723940	HepG2	liver:	n/a	n/a
11	TCF7L2	chr1:145723566-145723759	PANC-1	pancreas:	n/a	n/a
12	HEY1	chr1:145723388-145723686	HepG2	liver:	n/a	n/a
13	HDAC2	chr1:145723433-145723936	HepG2	liver:	n/a	n/a
14	ESR1	chr1:145723474-145723981	ECC-1	luminal epithelium:	n/a	n/a
15	FOXA2	chr1:145723321-145723990	A549	lung:	n/a	n/a
16	RXRA	chr1:145723460-145723953	HepG2	liver:	n/a	n/a
17	NR3C1	chr1:145723272-145723959	A549	lung:	n/a	n/a
18	GATA3	chr1:145723242-145724822	A549	lung:	n/a	n/a
19	SMC3	chr1:145723499-145723825	HepG2	liver:	n/a	n/a
20	GATA3	chr1:145722892-145724775	MCF-7	breast:	n/a	n/a
21	MAFK	chr1:145723495-145723737	HepG2	liver:	n/a	n/a
22	TCF12	chr1:145723386-145723957	ECC-1	luminal epithelium:	n/a	chr1:145723791-145723799
23	MAX	chr1:145723239-145723914	A549	lung:	n/a	n/a
24	NR2F2	chr1:145723257-145724070	MCF-7	breast:	n/a	n/a
25	EP300	chr1:145723344-145723950	A549	lung:	n/a	n/a
26	TEAD4	chr1:145723245-145724079	HepG2	liver:	n/a	n/a
27	MYBL2	chr1:145723398-145724024	HepG2	liver:	n/a	n/a
28	EP300	chr1:145723447-145723963	HepG2	liver:	n/a	n/a
29	NR3C1	chr1:145723354-145723837	A549	lung:	n/a	n/a
30	HDAC2	chr1:145722958-145724069	MCF-7	breast:	n/a	chr1:145723157-145723165
31	CREB1	chr1:145723450-145723725	A549	lung:	n/a	n/a
32	NR3C1	chr1:145723316-145723861	A549	lung:	n/a	n/a
33	REST	chr1:145723271-145723826	A549	lung:	n/a	n/a
34	MAX	chr1:145723387-145723799	Hela-S3	cervix:	n/a	n/a
35	RCOR1	chr1:145723537-145723823	HepG2	liver:	n/a	n/a
36	FOXA1	chr1:145723481-145723921	HepG2	liver:	n/a	n/a
37	NFIC	chr1:145723402-145723935	ECC-1	luminal epithelium:	n/a	n/a
38	TEAD4	chr1:145723410-145724030	A549	lung:	n/a	n/a
39	NFIC	chr1:145723353-145724042	ECC-1	luminal epithelium:	n/a	n/a
40	TEAD4	chr1:145723341-145724044	ECC-1	luminal epithelium:	n/a	n/a
41	MAX	chr1:145723484-145723743	HepG2	liver:	n/a	n/a
42	TEAD4	chr1:145723359-145723874	A549	lung:	n/a	n/a
43	JUND	chr1:145723242-145724111	MCF-7	breast:	n/a	n/a
44	FOXA1	chr1:145723384-145723961	HepG2	liver:	n/a	n/a
45	SP1	chr1:145723121-145723990	A549	lung:	n/a	chr1:145723245-145723252
46	ESR1	chr1:145723486-145723933	ECC-1	luminal epithelium:	n/a	n/a
47	NR3C1	chr1:145723381-145723820	A549	lung:	n/a	n/a
48	ESR1	chr1:145723513-145723994	ECC-1	luminal epithelium:	n/a	n/a
49	EP300	chr1:145723290-145724081	MCF-7	breast:	n/a	n/a
50	MAX	chr1:145723138-145724024	A549	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:145711029..145717889-chr1:145720179..145726551,11	MCF-7	breast:
2	chr1:145692412..145694910-chr1:145722142..145723800,2	MCF-7	breast:
3	chr1:145721886..145725323-chr1:145729414..145733155,4	K562	blood:
4	chr1:145723270..145733747-chr1:145739034..145747230,17	MCF-7	breast:
5	chr1:145721524..145724567-chr1:145726836..145730406,4	K562	blood:

No data

Variant related genes	Relation type
PDZK1	TF binding region
ENSG00000117281	Chromatin interaction
ENSG00000174827	Chromatin interaction

Extended variants
information (count: 161 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10752826	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs10910823	0.81[CHB][hapmap]
rs10910845	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11587821	0.94[CHB][hapmap];0.82[CHD][hapmap];0.86[JPT][hapmap]
rs11590105	0.85[JPT][hapmap]
rs11591191	0.93[CHB][hapmap];0.86[JPT][hapmap]
rs12123298	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs12402867	0.94[CHB][hapmap];0.82[CHD][hapmap];0.86[JPT][hapmap]
rs12405132	0.94[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap]
rs12724816	0.94[CHB][hapmap];0.82[CHD][hapmap];0.86[JPT][hapmap]
rs12725120	0.94[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap]
rs12750384	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs1471633	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1471634	0.94[CHB][hapmap];0.82[CHD][hapmap];0.86[JPT][hapmap]
rs17352281	0.81[CHB][hapmap]
rs17352469	0.94[CHB][hapmap];0.82[CHD][hapmap];0.86[JPT][hapmap]
rs17354678	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs2004659	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs2018027	0.94[CHB][hapmap];0.82[CHD][hapmap];0.86[JPT][hapmap]
rs2040086	1.00[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap]
rs2231375	0.94[CHB][hapmap];0.82[CHD][hapmap];0.86[JPT][hapmap]
rs2318299	0.94[CHB][hapmap];0.82[CHD][hapmap];0.86[JPT][hapmap]
rs28555168	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35103913	0.85[JPT][hapmap]
rs36107432	0.94[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap]
rs4970859	0.94[CHB][hapmap];0.82[CHD][hapmap];0.86[JPT][hapmap]
rs4970874	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs9286836	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs9441166	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9728345	0.94[CHB][hapmap];0.86[JPT][hapmap]

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

Variant related diseases (count:1)

Disease	PMID	Source
Urate levels	20884846	GWAS catalog

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:145714000-145726600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:145714200-145726600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:145715200-145726600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:145715600-145728400	Weak transcription	NHLF	lung
5	chr1:145716800-145727600	Enhancers	Fetal Intestine Small	intestine
6	chr1:145717800-145726600	Weak transcription	Small Intestine	intestine
7	chr1:145719000-145727600	Enhancers	Liver	Liver
8	chr1:145719200-145726600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:145719200-145726600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:145719400-145726200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:145719400-145726800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:145720200-145726600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:145721600-145726600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr1:145722000-145724000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:145722200-145724800	Enhancers	Fetal Intestine Large	intestine
16	chr1:145722600-145723800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:145722800-145724200	Flanking Active TSS	HepG2	liver
18	chr1:145723000-145724000	Enhancers	Pancreas	Pancrea
19	chr1:145723000-145724200	Enhancers	Placenta Amnion	Placenta Amnion
20	chr1:145723000-145724200	Flanking Active TSS	A549	lung
21	chr1:145723000-145724400	Enhancers	Duodenum Mucosa	Duodenum
22	chr1:145723200-145723800	Enhancers	Hela-S3	cervix
23	chr1:145723200-145724200	Enhancers	Fetal Kidney	kidney
24	chr1:145723400-145723800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr1:145723400-145724000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:145723400-145724200	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr1:145723600-145726000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:145723600-145726800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:145723600-145726800	Weak transcription	Stomach Mucosa	stomach
30	chr1:145723600-145728400	Weak transcription	Fetal Heart	heart

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