Variant report

Variant	rs3095287
Chromosome Location	chr6:29653803-29653804
allele	A/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	RAD21	chr6:29653551-29653861	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr6:29653639-29653809	GM19240	blood:	n/a	n/a
3	CTCF	chr6:29653498-29653963	MCF-7	breast:	n/a	chr6:29653634-29653641
4	SMC3	chr6:29653541-29653850	K562	blood:	n/a	n/a
5	CTCF	chr6:29653580-29653830	GM06990	blood:	n/a	chr6:29653634-29653641
6	RAD21	chr6:29653557-29653947	MCF-7	breast:	n/a	n/a
7	CTCF	chr6:29653510-29653925	MCF-7	breast:	n/a	chr6:29653634-29653641
8	RCOR1	chr6:29653595-29653902	K562	blood:	n/a	n/a
9	CTCF	chr6:29653595-29653839	MCF-7	breast:	n/a	chr6:29653634-29653641
10	RAD21	chr6:29653536-29653809	K562	blood:	n/a	n/a
11	BHLHE40	chr6:29653749-29653814	K562	blood:	n/a	n/a
12	CTCF	chr6:29653513-29653857	K562	blood:	n/a	chr6:29653634-29653641
13	CTCF	chr6:29653580-29653846	H1-hESC	embryonic stem cell:	n/a	chr6:29653634-29653641
14	CTCF	chr6:29653603-29653821	MCF-7	breast:	n/a	chr6:29653634-29653641
15	CTCF	chr6:29653597-29653842	MCF-7	breast:	n/a	chr6:29653634-29653641
16	CTCF	chr6:29653660-29653810	GM12874	blood:	n/a	n/a
17	CTCF	chr6:29653660-29653810	RPTEC	kidney:	n/a	n/a
18	CTCF	chr6:29653612-29653820	SK-N-SH_RA	brain:	n/a	chr6:29653634-29653641
19	JUND	chr6:29653627-29653835	K562	blood:	n/a	n/a
20	CTCF	chr6:29653660-29653810	HCM	heart:	n/a	n/a
21	RAD21	chr6:29653513-29653879	SK-N-SH_RA	brain:	n/a	n/a
22	CTCF	chr6:29653584-29653840	MCF-7	breast:	n/a	chr6:29653634-29653641
23	BACH1	chr6:29653483-29653888	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr6:29653476-29653961	H1-hESC	embryonic stem cell:	n/a	chr6:29653634-29653641
25	CTCF	chr6:29653539-29653888	K562	blood:	n/a	chr6:29653634-29653641
26	GTF2F1	chr6:29653647-29653847	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr6:29653585-29653839	NHEK	skin:	n/a	chr6:29653634-29653641
28	CTCF	chr6:29653680-29653830	AG09309	skin:	n/a	n/a
29	CTCF	chr6:29653641-29653817	HepG2	liver:	n/a	n/a
30	RAD21	chr6:29653475-29653850	MCF-7	breast:	n/a	n/a
31	CTCF	chr6:29653680-29653830	HPAF	blood vessel:	n/a	n/a
32	CTCF	chr6:29653595-29653826	MCF-7	breast:	n/a	chr6:29653634-29653641
33	CTCF	chr6:29653521-29653887	HepG2	liver:	n/a	chr6:29653634-29653641
34	RAD21	chr6:29653525-29653869	HepG2	liver:	n/a	n/a
35	ZNF143	chr6:29653581-29653811	K562	blood:	n/a	n/a
36	CTCF	chr6:29653660-29653810	HCFaa	heart:	n/a	n/a
37	ZNF143	chr6:29653540-29653871	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr6:29653580-29653887	K562	blood:	n/a	chr6:29653634-29653641
39	RAD21	chr6:29653658-29653804	GM12878	blood:	n/a	n/a
40	CTCF	chr6:29653621-29653813	GM19239	blood:	n/a	chr6:29653634-29653641
41	RAD21	chr6:29653605-29653871	ECC-1	luminal epithelium:	n/a	n/a
42	RAD21	chr6:29653398-29653914	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr6:29653348-29653946	SK-N-SH	brain:	n/a	chr6:29653634-29653641
44	CTCF	chr6:29653660-29653810	GM12871	blood:	n/a	n/a
45	RAD21	chr6:29653625-29653810	K562	blood:	n/a	n/a
46	CTCF	chr6:29653463-29653892	K562	blood:	n/a	chr6:29653634-29653641
47	MAZ	chr6:29653610-29653854	K562	blood:	n/a	n/a
48	RAD21	chr6:29653611-29653811	HepG2	liver:	n/a	n/a
49	REST	chr6:29653637-29653873	H1-hESC	embryonic stem cell:	n/a	n/a
50	MYC	chr6:29653644-29653823	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:29617916..29618459-chr6:29653660..29654518,2	MCF-7	breast:
2	chr6:29617940..29618834-chr6:29653305..29654103,4	MCF-7	breast:
3	chr6:29619566..29622372-chr6:29653366..29655066,2	MCF-7	breast:
4	chr6:29619162..29620164-chr6:29653167..29654163,5	MCF-7	breast:

Variant related genes	Relation type
ZFP57	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1122947	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1984840	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2079898	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2517913	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2535245	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2535246	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2535260	0.81[ASN][1000 genomes]
rs2735063	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2747425	0.85[EUR][1000 genomes]
rs2747453	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2747455	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs29231	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs29273	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2982837	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3129041	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3129074	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3129087	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3129090	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3131876	0.83[ASN][1000 genomes]
rs3131879	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3131881	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3131882	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6456993	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6941117	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7738159	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7776296	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9257931	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9258093	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9258094	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9258102	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9258106	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9258110	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9258111	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9258114	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9258126	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9258127	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9258131	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758039	chr6:29469101-29672665	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	esv2759411	chr6:29469101-29672665	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv883530	chr6:29645038-29677641	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3095287	ZFP57	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29625000-29663600	Weak transcription	Right Atrium	heart
2	chr6:29648800-29662600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:29649200-29655000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:29652200-29656000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr6:29653400-29654000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr6:29653400-29654000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:29653800-29654000	Enhancers	H1 Cell Line	embryonic stem cell

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