Variant report

Variant	rs28757437
Chromosome Location	chr5:177018102-177018103
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr5:177018089-177018335	HL-60	blood:	n/a	n/a
2	RFX5	chr5:177017807-177018235	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:176805970..176807499-chr5:177018005..177019768,2	K562	blood:
2	chr5:176978290..176981747-chr5:177017313..177020640,7	MCF-7	breast:
3	chr5:176933337..176935861-chr5:177015983..177018322,2	K562	blood:
4	chr5:176923602..176926182-chr5:177017999..177019710,2	K562	blood:
5	chr5:176939485..176941829-chr5:177017923..177020658,4	MCF-7	breast:
6	chr5:176980076..176982423-chr5:177017925..177021146,3	K562	blood:
7	chr5:176922040..176925610-chr5:177017064..177019499,4	K562	blood:
8	chr5:177017384..177019488-chr5:177631001..177633000,2	MCF-7	breast:

No data

Variant related genes	Relation type
TMED9	TF binding region
ENSG00000131183	Chromatin interaction
ENSG00000272459	Chromatin interaction
ENSG00000196923	Chromatin interaction
ENSG00000146067	Chromatin interaction
ENSG00000197451	Chromatin interaction
ENSG00000183258	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10036396	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10040391	0.84[EUR][1000 genomes]
rs1047577	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11490750	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13164561	0.84[EUR][1000 genomes]
rs1843633	0.81[ASN][1000 genomes]
rs1872623	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1872624	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1963011	0.80[ASN][1000 genomes]
rs2334991	0.82[EUR][1000 genomes]
rs28375402	0.97[ASN][1000 genomes]
rs28579790	0.94[ASN][1000 genomes]
rs28707336	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4458584	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56981142	0.83[EUR][1000 genomes]
rs60992195	0.94[ASN][1000 genomes]
rs6882209	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6889184	0.82[ASN][1000 genomes]
rs7731783	0.82[EUR][1000 genomes]
rs901379	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916108	chr5:176688459-177078723	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
2	nsv1024444	chr5:176751921-177427715	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
3	esv2752795	chr5:176898619-177488281	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1022630	chr5:176975746-177028082	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv537966	chr5:176975746-177028082	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv883181	chr5:176978496-177034786	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv883182	chr5:176980995-177322056	Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
8	esv3348457	chr5:176995395-177020808	Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs28757437	FAM153A	cis	Heart Left Ventricle	GTEx
rs28757437	B4GALT7	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177014200-177018600	Weak transcription	Primary B cells from peripheral blood	blood
2	chr5:177016000-177018400	Weak transcription	K562	blood
3	chr5:177016400-177018600	Weak transcription	Fetal Intestine Small	intestine
4	chr5:177016800-177018600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:177016800-177018600	Weak transcription	HepG2	liver

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