Variant report

Variant	rs56101454
Chromosome Location	chr6:29653713-29653714
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	chr6:29653695-29653742	GM10248	blood:	n/a	n/a
2	CTCF	chr6:29653640-29653790	SAEC	small airway:	n/a	n/a
3	RAD21	chr6:29653551-29653861	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr6:29653639-29653809	GM19240	blood:	n/a	n/a
5	CTCFL	chr6:29653595-29653779	K562	blood:	n/a	n/a
6	CTCF	chr6:29653498-29653963	MCF-7	breast:	n/a	chr6:29653634-29653641
7	CTCF	chr6:29653600-29653750	AG09319	gingival:	n/a	chr6:29653634-29653641
8	CTCF	chr6:29653640-29653790	HCPEpiC	choroid plexus:	n/a	n/a
9	CTCF	chr6:29653600-29653750	WERI-Rb-1	eye:	n/a	chr6:29653634-29653641
10	CTCF	chr6:29653640-29653790	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr6:29653640-29653790	GM12873	blood:	n/a	n/a
12	SMC3	chr6:29653541-29653850	K562	blood:	n/a	n/a
13	CTCF	chr6:29653580-29653830	GM06990	blood:	n/a	chr6:29653634-29653641
14	CTCF	chr6:29653640-29653790	HPAF	blood vessel:	n/a	n/a
15	CTCF	chr6:29653640-29653790	MCF-7	breast:	n/a	n/a
16	RAD21	chr6:29653557-29653947	MCF-7	breast:	n/a	n/a
17	CTCF	chr6:29653510-29653925	MCF-7	breast:	n/a	chr6:29653634-29653641
18	RCOR1	chr6:29653595-29653902	K562	blood:	n/a	n/a
19	CTCF	chr6:29653595-29653839	MCF-7	breast:	n/a	chr6:29653634-29653641
20	RAD21	chr6:29653536-29653809	K562	blood:	n/a	n/a
21	CTCF	chr6:29653600-29653750	AG04449	skin:	n/a	chr6:29653634-29653641
22	CTCF	chr6:29653513-29653857	K562	blood:	n/a	chr6:29653634-29653641
23	CTCF	chr6:29653646-29653794	HUVEC	blood vessel:	n/a	n/a
24	CTCF	chr6:29653580-29653846	H1-hESC	embryonic stem cell:	n/a	chr6:29653634-29653641
25	CTCF	chr6:29653633-29653795	GM10266	blood:	n/a	chr6:29653634-29653641
26	CTCF	chr6:29653603-29653821	MCF-7	breast:	n/a	chr6:29653634-29653641
27	CTCF	chr6:29653597-29653842	MCF-7	breast:	n/a	chr6:29653634-29653641
28	CTCF	chr6:29653620-29653770	HVMF	connective:	n/a	chr6:29653634-29653641
29	CTCF	chr6:29653640-29653790	GM12864	blood:	n/a	n/a
30	CTCF	chr6:29653660-29653810	GM12874	blood:	n/a	n/a
31	CTCF	chr6:29653554-29653782	T-47D	breast:	n/a	chr6:29653634-29653641
32	CTCF	chr6:29653620-29653770	HCPEpiC	choroid plexus:	n/a	chr6:29653634-29653641
33	CTCF	chr6:29653660-29653810	RPTEC	kidney:	n/a	n/a
34	REST	chr6:29653603-29653790	K562	blood:	n/a	n/a
35	CTCF	chr6:29653612-29653820	SK-N-SH_RA	brain:	n/a	chr6:29653634-29653641
36	JUND	chr6:29653627-29653835	K562	blood:	n/a	n/a
37	STAT3	chr6:29653645-29653757	MCF10A-Er-Src	breast:	n/a	n/a
38	CTCF	chr6:29653620-29653770	WERI-Rb-1	eye:	n/a	chr6:29653634-29653641
39	CTCF	chr6:29653660-29653810	HCM	heart:	n/a	n/a
40	CTCF	chr6:29653580-29653730	SK-N-SH_RA	brain:	n/a	chr6:29653634-29653641
41	RAD21	chr6:29653513-29653879	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr6:29653596-29653795	A549	lung:	n/a	chr6:29653634-29653641
43	CTCF	chr6:29653584-29653840	MCF-7	breast:	n/a	chr6:29653634-29653641
44	BACH1	chr6:29653483-29653888	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr6:29653476-29653961	H1-hESC	embryonic stem cell:	n/a	chr6:29653634-29653641
46	CTCF	chr6:29653539-29653888	K562	blood:	n/a	chr6:29653634-29653641
47	GTF2F1	chr6:29653647-29653847	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr6:29653585-29653839	NHEK	skin:	n/a	chr6:29653634-29653641
49	CTCF	chr6:29653680-29653830	AG09309	skin:	n/a	n/a
50	RCOR1	chr6:29653653-29653793	Hela-S3	cervix:	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:
5	chr6:29618832..29619613-chr6:29653205..29653756,2	MCF-7	breast:

Variant related genes	Relation type
ZFP57	TF binding region

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs16895218	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16895757	1.00[AFR][1000 genomes]
rs17184661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs29233	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs29254	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3117313	0.99[ASN][1000 genomes]
rs3888722	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3906306	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4085262	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4085264	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4143366	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55661776	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs55672647	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55693745	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55791644	1.00[AFR][1000 genomes]
rs55792521	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55884048	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55933609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56044823	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56155978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56172386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56269224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56287651	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56290866	1.00[AFR][1000 genomes]
rs56392172	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62391766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62391767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62391768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62391770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62391785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62391786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62391801	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62391819	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62391821	0.82[EUR][1000 genomes]
rs62391822	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62391833	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62391835	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62391842	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62391843	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62391844	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62391850	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62391851	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62392946	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62392949	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62392950	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62392951	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62392953	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62392954	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62392955	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62392956	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62392957	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62392958	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62394668	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62394669	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62394670	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs67382831	1.00[AFR][1000 genomes]
rs71550159	1.00[AFR][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

No data

Chromatin state (count:8 , 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	chr6:29652200-29653800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr6:29652200-29653800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:29652200-29656000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:29653400-29654000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr6:29653400-29654000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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