Variant report

Variant	rs17416836
Chromosome Location	chr4:78914000-78914001
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	MXI1	chr4:78911792-78914223	SK-N-SH	brain:	n/a	n/a
2	EP300	chr4:78911101-78914215	SK-N-SH	brain:	n/a	chr4:78913240-78913249 chr4:78911637-78911646 chr4:78912160-78912174

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:78913096..78915245-chr4:78935885..78937796,2	K562	blood:

Variant related genes	Relation type
HNRNPA1P56	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11935318	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17409255	1.00[CEU][hapmap]
rs17409708	1.00[CEU][hapmap]
rs17410182	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17416711	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17449827	1.00[CEU][hapmap]
rs17450307	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17450474	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17450655	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1801350	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1801521	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1915587	1.00[CEU][hapmap]
rs1915588	1.00[CEU][hapmap]
rs57408981	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58449376	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6810599	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6812768	0.81[EUR][1000 genomes]
rs6815466	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6816113	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs6825764	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6850795	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6853446	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7656101	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7657902	0.81[EUR][1000 genomes]
rs7673193	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7674271	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs7678283	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7687500	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7699718	1.00[CEU][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752050	chr4:78693311-78975321	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1010714	chr4:78742505-78991030	Weak transcription Genic enhancers Bivalent/Poised TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv516836	chr4:78748977-78981919	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv594704	chr4:78748977-78981919	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv461562	chr4:78757015-78981919	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv461563	chr4:78757015-78981919	Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv594705	chr4:78757015-78981919	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1008217	chr4:78777531-78957311	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv537145	chr4:78777531-78957311	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription 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 miRNA target site	18 gene(s)	inside rSNPs	diseases
11	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
12	nsv1004772	chr4:78906866-78976561	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78911400-78915200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:78912200-78914000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr4:78912400-78915000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:78912400-78915200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr4:78912400-78915200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:78912600-78915000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:78912600-78915000	Weak transcription	HepG2	liver
8	chr4:78912800-78915200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:78913000-78915200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:78913000-78915200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr4:78913200-78915200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr4:78913400-78914200	Enhancers	Brain Germinal Matrix	brain
13	chr4:78913400-78915200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr4:78913400-78915200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr4:78913400-78915400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr4:78913800-78915200	Weak transcription	Fetal Lung	lung
17	chr4:78913800-78915400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:78914000-78915200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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