Variant report

Variant	rs7723861
Chromosome Location	chr5:59759095-59759096
allele	C/G
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	BCL3	chr5:59758832-59759533	A549	lung:	n/a	n/a
2	SMC3	chr5:59758958-59759701	HepG2	liver:	n/a	n/a
3	ELF1	chr5:59758991-59759349	A549	lung:	n/a	n/a
4	TEAD4	chr5:59758876-59759514	A549	lung:	n/a	n/a
5	EP300	chr5:59758885-59759409	HepG2	liver:	n/a	n/a
6	GATA3	chr5:59758809-59759741	A549	lung:	n/a	chr5:59759611-59759621 chr5:59759160-59759167 chr5:59759160-59759167 chr5:59759160-59759167
7	MAX	chr5:59758845-59759738	A549	lung:	n/a	chr5:59759579-59759588
8	GATA3	chr5:59758989-59759332	T-47D	breast:	n/a	chr5:59759160-59759167 chr5:59759160-59759167 chr5:59759160-59759167
9	ETS1	chr5:59758963-59759424	A549	lung:	n/a	n/a
10	ATF3	chr5:59758895-59759556	A549	lung:	n/a	n/a
11	CEBPB	chr5:59758995-59759301	K562	blood:	n/a	chr5:59759173-59759184
12	HDAC2	chr5:59758963-59759378	HepG2	liver:	n/a	n/a
13	CEBPB	chr5:59758957-59759712	HepG2	liver:	n/a	chr5:59759173-59759184
14	REST	chr5:59758737-59759604	A549	lung:	n/a	chr5:59759578-59759587 chr5:59759573-59759591
15	BHLHE40	chr5:59758956-59759660	HepG2	liver:	n/a	n/a
16	GTF2F1	chr5:59758977-59759621	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr5:59759013-59759326	MCF-7	breast:	n/a	chr5:59759173-59759184
18	ARID3A	chr5:59759049-59759883	HepG2	liver:	n/a	n/a
19	FOXA1	chr5:59758947-59759632	HepG2	liver:	n/a	chr5:59759395-59759407 chr5:59759399-59759411
20	RAD21	chr5:59759001-59759577	Hela-S3	cervix:	n/a	n/a
21	NR3C1	chr5:59758915-59759675	A549	lung:	n/a	chr5:59759608-59759617
22	NRF1	chr5:59758801-59759507	Hela-S3	cervix:	n/a	n/a
23	EP300	chr5:59758867-59759714	HepG2	liver:	n/a	n/a
24	CEBPB	chr5:59758952-59759391	HepG2	liver:	n/a	chr5:59759173-59759184
25	MAX	chr5:59758977-59759633	Hela-S3	cervix:	n/a	chr5:59759579-59759588
26	NR3C1	chr5:59758944-59759554	A549	lung:	n/a	n/a
27	FOXA1	chr5:59758880-59759659	HepG2	liver:	n/a	chr5:59759395-59759407 chr5:59759399-59759411
28	CEBPB	chr5:59759016-59759277	HepG2	liver:	n/a	chr5:59759173-59759184
29	FOXA2	chr5:59758825-59759734	A549	lung:	n/a	chr5:59759395-59759407 chr5:59759399-59759411
30	CEBPB	chr5:59758954-59759375	A549	lung:	n/a	chr5:59759173-59759184
31	BHLHE40	chr5:59758972-59759353	A549	lung:	n/a	n/a
32	CEBPB	chr5:59758997-59759365	IMR90	lung:	n/a	chr5:59759173-59759184
33	CEBPB	chr5:59758780-59759728	A549	lung:	n/a	chr5:59759173-59759184 chr5:59758810-59758822 chr5:59758883-59758895
34	JUND	chr5:59758929-59759609	A549	lung:	n/a	n/a
35	SP1	chr5:59758689-59759812	A549	lung:	n/a	n/a
36	EP300	chr5:59758995-59759328	Hela-S3	cervix:	n/a	n/a
37	MYC	chr5:59758985-59759478	Hela-S3	cervix:	n/a	n/a
38	GATA3	chr5:59758980-59759387	MCF-7	breast:	n/a	chr5:59759160-59759167 chr5:59759160-59759167 chr5:59759160-59759167
39	GATA3	chr5:59759009-59759339	T-47D	breast:	n/a	chr5:59759160-59759167 chr5:59759160-59759167 chr5:59759160-59759167
40	JUND	chr5:59758953-59759451	A549	lung:	n/a	n/a
41	CEBPB	chr5:59758972-59759399	MCF-7	breast:	n/a	chr5:59759173-59759184
42	TCF12	chr5:59758844-59759435	A549	lung:	n/a	chr5:59759395-59759404
43	STAT3	chr5:59758904-59759320	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr5:59758981-59759376	K562	blood:	n/a	chr5:59759173-59759184
45	FOXA2	chr5:59758969-59759510	HepG2	liver:	n/a	chr5:59759395-59759407 chr5:59759399-59759411
46	FOXA1	chr5:59758918-59759579	HepG2	liver:	n/a	chr5:59759395-59759407 chr5:59759399-59759411
47	REST	chr5:59759022-59759301	A549	lung:	n/a	n/a
48	TCF12	chr5:59758637-59759911	A549	lung:	n/a	chr5:59759395-59759404
49	FOSL2	chr5:59758970-59759426	A549	lung:	n/a	n/a
50	SMC3	chr5:59758935-59759505	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
SETP21	TF binding region

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10514893	1.00[CEU][hapmap]
rs10514894	1.00[CEU][hapmap]
rs10939848	0.99[ASN][1000 genomes]
rs1423471	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1423473	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];0.98[ASN][1000 genomes]
rs16877896	1.00[CEU][hapmap]
rs16877898	1.00[CEU][hapmap]
rs16877901	1.00[CEU][hapmap]
rs16877933	1.00[CEU][hapmap]
rs16877936	1.00[CEU][hapmap]
rs16877964	1.00[CEU][hapmap]
rs16877967	1.00[CEU][hapmap]
rs16877993	0.91[CHB][hapmap]
rs16878035	1.00[CEU][hapmap];0.92[CHB][hapmap];0.84[EUR][1000 genomes]
rs16878037	1.00[CEU][hapmap];0.92[CHB][hapmap];0.84[EUR][1000 genomes]
rs16878086	1.00[CEU][hapmap];0.92[CHB][hapmap];0.84[EUR][1000 genomes]
rs16878104	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs16878106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16878108	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17326404	1.00[CEU][hapmap]
rs17378750	1.00[CEU][hapmap]
rs1862589	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409102	0.99[ASN][1000 genomes]
rs3763059	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.89[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4090603	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4130444	1.00[CEU][hapmap]
rs4580738	1.00[CEU][hapmap]
rs55737169	0.99[ASN][1000 genomes]
rs56151644	0.84[EUR][1000 genomes]
rs56217581	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58376959	0.84[EUR][1000 genomes]
rs58891299	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59313902	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60104228	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60257457	0.99[ASN][1000 genomes]
rs61166140	0.93[ASN][1000 genomes]
rs61379877	0.99[ASN][1000 genomes]
rs6449471	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6864442	0.92[CHB][hapmap]
rs6878429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6887545	0.90[CHB][hapmap]
rs6887925	0.92[CHB][hapmap]
rs6891858	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs73108666	0.98[ASN][1000 genomes]
rs73108670	0.99[ASN][1000 genomes]
rs73108674	0.99[ASN][1000 genomes]
rs73759052	0.84[EUR][1000 genomes]
rs73759053	0.84[EUR][1000 genomes]
rs7702188	1.00[CEU][hapmap]
rs7702474	1.00[CHB][hapmap];0.85[JPT][hapmap];0.98[ASN][1000 genomes]
rs7705194	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7712662	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.98[ASN][1000 genomes]
rs7725629	1.00[CEU][hapmap];0.92[CHB][hapmap];0.84[EUR][1000 genomes]
rs7734108	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.82[MKK][hapmap];0.80[YRI][hapmap];0.99[ASN][1000 genomes]
rs7737086	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025856	chr5:59188419-59928852	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1015381	chr5:59678425-59772485	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1034331	chr5:59678773-59773467	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv1018614	chr5:59708223-59910308	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1033344	chr5:59710033-59773467	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1026008	chr5:59717732-59761680	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv1030689	chr5:59717732-59765065	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv1029577	chr5:59717732-59771723	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv1019718	chr5:59717732-59772485	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	nsv1020997	chr5:59717732-59773467	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	esv2763904	chr5:59717744-59773479	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv598290	chr5:59722882-59759107	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	nsv598291	chr5:59722882-59759657	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	nsv1015194	chr5:59722882-59771723	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	nsv516823	chr5:59722882-59771723	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	nsv462193	chr5:59722882-59771723	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	nsv462194	chr5:59722882-59771723	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	nsv462196	chr5:59722882-59771723	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	nsv598292	chr5:59722882-59771723	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
21	nsv1016018	chr5:59722882-59772485	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
22	nsv1030784	chr5:59722882-59773467	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
23	nsv598293	chr5:59722882-59777561	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
24	nsv598294	chr5:59723085-59771723	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
25	nsv1031998	chr5:59724246-59773467	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
26	nsv462197	chr5:59724947-59771723	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
27	nsv598295	chr5:59724947-59771723	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
28	nsv881711	chr5:59724947-59890278	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
29	nsv1016558	chr5:59729770-59771723	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
30	nsv1031649	chr5:59729770-59772485	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
31	nsv1026470	chr5:59729770-59773467	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
32	nsv598296	chr5:59733365-59759107	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
33	nsv598297	chr5:59734004-59862453	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
34	nsv1026031	chr5:59734856-59773467	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
35	nsv1015968	chr5:59736744-59772485	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
36	nsv1021657	chr5:59740181-59773467	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59727200-59766600	Weak transcription	Primary B cells from cord blood	blood
2	chr5:59741800-59783200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:59749800-59760600	Weak transcription	Aorta	Aorta
4	chr5:59752400-59778400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:59758200-59768800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:59758400-59759200	Enhancers	HepG2	liver
7	chr5:59758400-59760000	Flanking Active TSS	A549	lung
8	chr5:59758800-59759800	Enhancers	Placenta	Placenta
9	chr5:59759000-59759600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:59759000-59759600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr5:59759000-59759600	Flanking Active TSS	Hela-S3	cervix
12	chr5:59759000-59759600	Enhancers	Osteobl	bone

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