Variant report

Variant	rs35451836
Chromosome Location	chr2:151909269-151909270
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	GATA3	chr2:151909094-151910337	SK-N-SH	brain:	n/a	chr2:151909604-151909616 chr2:151909898-151909907 chr2:151909606-151909615 chr2:151909602-151909618 chr2:151909602-151909618 chr2:151909606-151909613 chr2:151909599-151909620 chr2:151909605-151909615
2	PBX3	chr2:151909224-151909977	SK-N-SH	brain:	n/a	n/a
3	NFIC	chr2:151909216-151910320	SK-N-SH	brain:	n/a	n/a
4	TCF12	chr2:151909079-151910503	SK-N-SH	brain:	n/a	chr2:151910323-151910330
5	PBX3	chr2:151909169-151910261	SK-N-SH	brain:	n/a	n/a
6	GATA3	chr2:151909179-151909953	SK-N-SH	brain:	n/a	chr2:151909604-151909616 chr2:151909898-151909907 chr2:151909606-151909615 chr2:151909602-151909618 chr2:151909602-151909618 chr2:151909606-151909613 chr2:151909599-151909620 chr2:151909605-151909615

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:151907813..151910172-chr2:151913284..151915565,3	K562	blood:

Variant related genes	Relation type
ENSG00000222031	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs12989503	1.00[AMR][1000 genomes]
rs12990096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12997492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13009048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13010851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13013474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13014189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13026983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13035255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823204	1.00[AFR][1000 genomes]
rs16829612	1.00[AFR][1000 genomes]
rs16829613	1.00[AFR][1000 genomes]
rs16829671	1.00[AFR][1000 genomes]
rs16829674	1.00[AFR][1000 genomes]
rs16829680	1.00[AFR][1000 genomes]
rs16829682	1.00[AFR][1000 genomes]
rs16829715	1.00[AFR][1000 genomes]
rs16829723	1.00[AFR][1000 genomes]
rs16829752	1.00[AFR][1000 genomes]
rs34221803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34238735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34557584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34573599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34677748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34873254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35052859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35110064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35555169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35643506	0.90[AMR][1000 genomes]
rs35691151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35758708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35868647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36104725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61637122	1.00[AFR][1000 genomes]
rs71208329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71415117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71415118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71415119	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71415121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71415122	1.00[AFR][1000 genomes];1.00[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	nsv525350	chr2:151711700-152044794	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv523849	chr2:151718133-152143524	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1002140	chr2:151833257-152054910	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151906000-151910600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:151906000-151910800	Enhancers	NHDF-Ad	bronchial
3	chr2:151906400-151912600	Weak transcription	NHLF	lung
4	chr2:151907200-151909400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:151908000-151910600	Enhancers	Osteobl	bone
6	chr2:151908400-151909400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:151908400-151910000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:151908600-151909600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:151908600-151909600	Weak transcription	NHEK	skin
10	chr2:151908600-151912600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:151908600-151912600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:151909000-151909400	Weak transcription	HMEC	breast
13	chr2:151909200-151909400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:151909200-151910200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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