Variant report

Variant	rs73976547
Chromosome Location	chr2:172924168-172924169
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:172924020-172924170	NHEK	skin:	n/a	n/a
2	CTCF	chr2:172924080-172924230	MCF-7	breast:	n/a	n/a
3	CTCF	chr2:172924020-172924170	MCF-7	breast:	n/a	n/a
4	CTCF	chr2:172924111-172924220	MCF-7	breast:	n/a	n/a
5	CTCF	chr2:172924060-172924210	HepG2	liver:	n/a	n/a
6	CTCF	chr2:172924080-172924230	GM12875	blood:	n/a	n/a
7	MYC	chr2:172924156-172924210	NB4	blood:	n/a	chr2:172924195-172924205
8	CTCF	chr2:172924096-172924168	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:172923032..172925626-chr2:172949094..172951045,3	MCF-7	breast:
2	chr2:172923489..172925905-chr2:172947615..172951148,4	MCF-7	breast:
3	chr2:172897690..172899268-chr2:172922598..172924829,2	MCF-7	breast:
4	chr2:172904144..172906423-chr2:172922589..172924377,2	MCF-7	breast:
5	chr2:172885814..172888656-chr2:172921876..172924424,2	K562	blood:
6	chr2:172916439..172918437-chr2:172924109..172926008,2	K562	blood:
7	chr2:172920303..172928510-chr2:172947424..172952310,9	K562	blood:
8	chr2:172922530..172925310-chr2:172938096..172940236,2	MCF-7	breast:

No data

Variant related genes	Relation type
METAP1D	TF binding region
ENSG00000144355	Chromatin interaction
ENSG00000172878	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10167594	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10171214	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10203462	0.92[ASN][1000 genomes]
rs10209911	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1038564	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497377	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10930503	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12052482	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12328877	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12616766	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12622144	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1344393	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17615589	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17615607	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2357323	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3796058	0.86[ASN][1000 genomes]
rs56923699	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57656367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73976544	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9973494	0.90[AMR][1000 genomes]
rs9973784	0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1012188	chr2:172855923-172928891	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv875412	chr2:172903124-172942448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172911000-172930000	Weak transcription	Primary T cells from cord blood	blood
2	chr2:172911200-172947200	Weak transcription	HSMM	muscle
3	chr2:172914000-172937000	Weak transcription	Pancreas	Pancrea
4	chr2:172917200-172927200	Weak transcription	Left Ventricle	heart
5	chr2:172917200-172927200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:172917400-172927000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:172917400-172934800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:172917800-172925800	Weak transcription	Fetal Lung	lung
9	chr2:172917800-172927800	Weak transcription	Ovary	ovary
10	chr2:172917800-172932000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:172917800-172944800	Weak transcription	Brain Substantia Nigra	brain
12	chr2:172918000-172930400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:172918000-172932800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:172918600-172927200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:172918600-172935600	Weak transcription	Fetal Kidney	kidney
16	chr2:172918600-172935800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr2:172918800-172926200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:172920000-172925400	Weak transcription	Brain Germinal Matrix	brain
19	chr2:172921200-172927000	Weak transcription	K562	blood
20	chr2:172921800-172937200	Weak transcription	HepG2	liver
21	chr2:172923600-172939800	Weak transcription	Psoas Muscle	Psoas

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