Variant report

Variant	rs4778738
Chromosome Location	chr15:79163602-79163603
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:79149764..79156555-chr15:79163462..79168215,14	K562	blood:
2	chr15:79147722..79157046-chr15:79163022..79167664,11	K562	blood:

Variant related genes	Relation type
ENSG00000243711	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10444811	0.83[EUR][1000 genomes]
rs10519215	0.83[EUR][1000 genomes]
rs10519216	0.83[EUR][1000 genomes]
rs10519217	0.83[EUR][1000 genomes]
rs11857042	0.99[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12050510	0.83[EUR][1000 genomes]
rs12050511	0.83[EUR][1000 genomes]
rs12050636	0.83[EUR][1000 genomes]
rs12438191	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12440205	0.83[EUR][1000 genomes]
rs12443105	0.83[EUR][1000 genomes]
rs12592618	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12916055	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1435163	0.83[EUR][1000 genomes]
rs16970194	0.85[EUR][1000 genomes]
rs16970223	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16970244	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1836556	0.83[EUR][1000 genomes]
rs34866535	0.83[EUR][1000 genomes]
rs4622479	0.97[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4624135	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4778740	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4778909	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56272008	0.85[EUR][1000 genomes]
rs56281795	0.87[EUR][1000 genomes]
rs56343754	0.97[EUR][1000 genomes]
rs56687292	0.82[EUR][1000 genomes]
rs58848937	0.97[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs59312571	0.87[EUR][1000 genomes]
rs59735519	0.87[EUR][1000 genomes]
rs62011055	1.00[EUR][1000 genomes]
rs62011056	1.00[EUR][1000 genomes]
rs62013160	0.87[EUR][1000 genomes]
rs62013184	0.83[EUR][1000 genomes]
rs62013186	0.83[EUR][1000 genomes]
rs62013196	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7165139	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7171539	0.83[EUR][1000 genomes]
rs7179763	0.85[EUR][1000 genomes]
rs7497610	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8025870	1.00[EUR][1000 genomes]
rs8026077	1.00[EUR][1000 genomes]
rs8027635	0.85[EUR][1000 genomes]
rs8028352	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8029496	0.81[EUR][1000 genomes]
rs8031280	0.87[EUR][1000 genomes]
rs8032867	0.85[EUR][1000 genomes]
rs8037651	0.85[EUR][1000 genomes]
rs8039140	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8039144	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8042187	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
2	esv33573	chr15:79053484-79293881	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv904432	chr15:79066932-79175813	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3312334	chr15:79162451-79167158	Enhancers Weak transcription 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	17 gene(s)	inside rSNPs	n/a
5	esv3312335	chr15:79162465-79167154	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79153200-79164600	Weak transcription	A549	lung
2	chr15:79156800-79164400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr15:79161000-79164400	Weak transcription	Adipose Nuclei	Adipose
4	chr15:79161400-79163800	Weak transcription	Placenta	Placenta
5	chr15:79161400-79164600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr15:79161800-79164600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:79163000-79163800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr15:79163200-79164000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr15:79163200-79164400	Enhancers	K562	blood
10	chr15:79163400-79163800	Enhancers	HepG2	liver
11	chr15:79163400-79164000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr15:79163400-79164400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr15:79163400-79164400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr15:79163400-79164400	Weak transcription	Hela-S3	cervix
15	chr15:79163600-79163800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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