Variant report

Variant	rs4968411
Chromosome Location	chr17:60196714-60196715
allele	A/C
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	BCLAF1	chr17:60196696-60197189	GM12878	blood:	n/a	n/a
2	POLR2A	chr17:60196713-60197224	SK-N-MC	brain:	n/a	n/a
3	YY1	chr17:60196658-60196909	GM12891	blood:	n/a	n/a
4	RUNX3	chr17:60196610-60197073	GM12878	blood:	n/a	n/a
5	YY1	chr17:60196654-60196948	GM12892	blood:	n/a	n/a
6	NFIC	chr17:60196591-60197329	GM12878	blood:	n/a	n/a
7	EP300	chr17:60196531-60198153	SK-N-SH	brain:	n/a	chr17:60196977-60196986
8	EP300	chr17:60196714-60197158	SK-N-SH_RA	brain:	n/a	chr17:60196977-60196986
9	MEF2A	chr17:60196695-60197179	GM12878	blood:	n/a	n/a
10	YY1	chr17:60196708-60196986	GM12892	blood:	n/a	n/a
11	RUNX3	chr17:60196661-60197023	GM12878	blood:	n/a	n/a
12	YY1	chr17:60196687-60196981	SK-N-SH_RA	brain:	n/a	n/a
13	NFIC	chr17:60196620-60197215	GM12878	blood:	n/a	n/a
14	YY1	chr17:60196655-60196951	GM12878	blood:	n/a	n/a
15	NFYB	chr17:60196699-60197199	GM12878	blood:	n/a	n/a
16	TCF12	chr17:60196657-60197297	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:60003894..60005689-chr17:60195294..60197320,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000207123	TF binding region
ENSG00000108506	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12103770	1.00[EUR][1000 genomes]
rs16945866	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28670441	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4968482	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7212697	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73327634	1.00[EUR][1000 genomes]
rs73338410	1.00[EUR][1000 genomes]
rs73338442	1.00[EUR][1000 genomes]
rs73991963	1.00[AMR][1000 genomes]
rs8074607	1.00[EUR][1000 genomes]
rs9890405	1.00[EUR][1000 genomes]
rs9894102	1.00[EUR][1000 genomes]
rs9897373	1.00[EUR][1000 genomes]
rs9897713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9898702	1.00[EUR][1000 genomes]
rs9899173	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9900110	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9905100	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9907962	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9910074	1.00[AMR][1000 genomes]
rs9913415	1.00[EUR][1000 genomes]
rs9916871	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062816	chr17:60074670-60470465	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	esv2755037	chr17:60086508-60386211	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3415630	chr17:60124819-60401635	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv833507	chr17:60174659-60369541	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv469887	chr17:60176679-60381899	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv482579	chr17:60176679-60381899	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60191200-60198000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr17:60195600-60198000	Enhancers	GM12878-XiMat	blood
3	chr17:60196600-60197000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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