Variant report

Variant	rs59077484
Chromosome Location	chr1:152626995-152626996
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:152626968-152627021	HUVEC	blood vessel:	n/a	n/a
2	CTCF	chr1:152626340-152627054	SK-N-SH	brain:	n/a	n/a
3	CTCF	chr1:152626860-152627010	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr1:152626479-152626999	K562	blood:	n/a	n/a
5	POLR2A	chr1:152626977-152627048	ProgFib	skin:	n/a	n/a
6	CTCF	chr1:152626049-152627081	A549	lung:	n/a	n/a
7	STAT3	chr1:152626890-152627221	MCF10A-Er-Src	breast:	n/a	n/a
8	CTCF	chr1:152626960-152627110	HCM	heart:	n/a	n/a
9	CTCF	chr1:152626940-152627090	GM12870	blood:	n/a	n/a
10	CTCF	chr1:152626900-152627050	HFF-Myc	foreskin:	n/a	n/a
11	CTCF	chr1:152626405-152627028	HCT-116	colon:	n/a	n/a
12	ZNF384	chr1:152626507-152627002	K562	blood:	n/a	n/a
13	RAD21	chr1:152626499-152627119	SK-N-SH	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:152626130..152627645-chr1:152842015..152844012,15	MCF-7	breast:
2	chr1:152626242..152627151-chr1:152734184..152735164,3	MCF-7	breast:
3	chr1:152626393..152627202-chr1:153165098..153165609,2	MCF-7	breast:
4	chr1:152626437..152627174-chr1:152749824..152750672,3	MCF-7	breast:
5	chr1:152626165..152627303-chr1:152707558..152708767,8	MCF-7	breast:
6	chr1:152626212..152627124-chr1:152707916..152708805,6	MCF-7	breast:

No data

Variant related genes	Relation type
LINC00302	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11205070	1.00[EUR][1000 genomes]
rs11205071	1.00[EUR][1000 genomes]
rs12057991	1.00[EUR][1000 genomes]
rs12060809	1.00[EUR][1000 genomes]
rs12064455	1.00[EUR][1000 genomes]
rs12068810	1.00[EUR][1000 genomes]
rs12074920	1.00[EUR][1000 genomes]
rs12096806	1.00[EUR][1000 genomes]
rs1412544	1.00[EUR][1000 genomes]
rs16834311	1.00[EUR][1000 genomes]
rs16834471	1.00[EUR][1000 genomes]
rs1831637	1.00[EUR][1000 genomes]
rs28375317	1.00[EUR][1000 genomes]
rs57559317	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57647094	1.00[EUR][1000 genomes]
rs58027261	1.00[EUR][1000 genomes]
rs58733562	1.00[EUR][1000 genomes]
rs58946274	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59980392	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60871494	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61699371	1.00[EUR][1000 genomes]
rs6587689	1.00[EUR][1000 genomes]
rs6658215	1.00[EUR][1000 genomes]
rs6664006	1.00[EUR][1000 genomes]
rs6676697	1.00[EUR][1000 genomes]
rs73005805	1.00[EUR][1000 genomes]
rs73009166	1.00[EUR][1000 genomes]
rs73011151	1.00[EUR][1000 genomes]
rs73011177	1.00[EUR][1000 genomes]
rs73014877	1.00[EUR][1000 genomes]
rs73014882	1.00[EUR][1000 genomes]
rs73014899	1.00[EUR][1000 genomes]
rs73016794	1.00[EUR][1000 genomes]
rs73019292	1.00[EUR][1000 genomes]
rs7515644	1.00[EUR][1000 genomes]
rs7516726	1.00[EUR][1000 genomes]
rs7541676	1.00[EUR][1000 genomes]
rs7547700	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2750810	chr1:152453669-152660927	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv1827111	chr1:152472839-152690073	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv1830764	chr1:152472839-152690073	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv2757755	chr1:152472839-152898153	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv2758970	chr1:152472839-152898153	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	esv33483	chr1:152550269-152775526	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv872447	chr1:152551276-152643160	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv547891	chr1:152556085-152770446	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv872448	chr1:152561408-152643160	Weak transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv469873	chr1:152563260-152713616	ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv482518	chr1:152563260-152713616	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv1001647	chr1:152572876-152678509	Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv427786	chr1:152572990-152898153	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
14	nsv872449	chr1:152583678-152643160	Weak transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv1013433	chr1:152619305-153262215	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
16	nsv535170	chr1:152619305-153262215	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152625200-152628200	Weak transcription	NHLF	lung
2	chr1:152626400-152627000	Enhancers	Fetal Stomach	stomach
3	chr1:152626400-152627200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:152626800-152627000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:152626800-152628200	Enhancers	HMEC	breast

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