Variant report

Variant	rs61990111
Chromosome Location	chr14:68068972-68068973
allele	C/T
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	YY1	chr14:68068831-68069078	GM12878	blood:	n/a	n/a
2	NFYB	chr14:68068958-68069118	GM12878	blood:	n/a	n/a
3	SPI1	chr14:68068812-68069110	GM12878	blood:	n/a	n/a
4	SPI1	chr14:68068787-68069061	GM12891	blood:	n/a	n/a
5	PAX5	chr14:68068759-68068992	GM12878	blood:	n/a	n/a
6	CHD2	chr14:68068933-68069131	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:68067332..68069387-chr14:68160866..68162653,2	MCF-7	breast:
2	chr14:68068683..68070494-chr14:68139357..68141644,2	MCF-7	breast:
3	chr14:68033912..68036171-chr14:68066958..68069605,2	MCF-7	breast:

Variant related genes	Relation type
PIGH	TF binding region
ENSG00000054690	Chromatin interaction
ENSG00000100568	Chromatin interaction
ENSG00000072042	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10129995	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12588931	0.96[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3742872	0.80[AMR][1000 genomes]
rs3742875	0.85[AMR][1000 genomes]
rs45474396	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4899212	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61990083	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61990084	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61990086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61990087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61990109	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61990110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990112	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61990113	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990114	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990115	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990116	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990117	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6573785	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7146307	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72721044	0.80[AMR][1000 genomes]
rs749270	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8010574	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8011057	0.80[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	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68067400-68069000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr14:68067400-68069400	Weak transcription	Fetal Kidney	kidney
3	chr14:68067400-68069800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:68067400-68069800	Weak transcription	Ovary	ovary
5	chr14:68067400-68070200	Weak transcription	Pancreas	Pancrea
6	chr14:68067400-68070400	Enhancers	Primary B cells from cord blood	blood
7	chr14:68067400-68070800	Enhancers	Primary B cells from peripheral blood	blood
8	chr14:68067400-68071200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:68067400-68076600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:68067600-68069600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr14:68067600-68069800	Weak transcription	HepG2	liver
12	chr14:68067800-68069800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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