Variant report

Variant	rs1991516
Chromosome Location	chr14:81689831-81689832
allele	A/T
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:5)
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	JUN	chr14:81689737-81689904	K562	blood:	n/a	n/a
2	JUND	chr14:81689821-81689894	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:81682255..81691444-chr14:81709014..81722196,43	MCF-7	breast:
2	chr14:81688918..81692006-chr14:81697199..81699936,3	K562	blood:
3	chr14:81683519..81693455-chr14:81706363..81723125,33	MCF-7	breast:
4	chr14:81684792..81690788-chr14:81724993..81730571,6	K562	blood:
5	chr14:81684227..81690291-chr14:81911956..81927827,27	MCF-7	breast:

No data

Variant related genes	Relation type
GTF2A1	TF binding region
ENSG00000205579	Chromatin interaction
ENSG00000258675	Chromatin interaction
ENSG00000270343	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1035948	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11159493	0.85[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11159494	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11622105	0.83[AFR][1000 genomes]
rs11625861	0.85[CEU][hapmap]
rs11850714	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12147118	0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs12590764	0.87[EUR][1000 genomes]
rs1864167	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1864169	0.83[CHB][hapmap]
rs1885601	0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1951614	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1951615	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1957549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2099108	0.82[ASN][1000 genomes]
rs2241621	0.85[CEU][hapmap]
rs2288497	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2288499	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2371570	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2371571	0.82[AFR][1000 genomes]
rs28890880	0.80[EUR][1000 genomes]
rs3815953	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4363794	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55643303	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55822231	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56835982	0.91[AFR][1000 genomes]
rs61980899	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61980900	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6574631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7141288	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs7142641	0.83[CHB][hapmap]
rs7148100	0.83[CHB][hapmap]
rs7149672	0.87[CHB][hapmap];0.80[ASN][1000 genomes]
rs7160342	0.82[AFR][1000 genomes]
rs7160569	0.82[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs72695758	0.80[AFR][1000 genomes]
rs759939	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8004096	0.88[EUR][1000 genomes]
rs8008870	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs8009519	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8011097	0.88[EUR][1000 genomes]
rs8014406	0.83[CHB][hapmap]
rs8015423	0.85[CEU][hapmap];0.81[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs8016982	0.87[CHB][hapmap]
rs8019108	0.82[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs8021125	0.87[EUR][1000 genomes]
rs8021385	0.87[EUR][1000 genomes]
rs9646167	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9806027	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[EUR][1000 genomes]
rs9944085	0.81[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832841	chr14:81588322-81743921	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	diseases
2	nsv902118	chr14:81679650-81715989	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	84 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81688200-81690000	Weak transcription	Ovary	ovary
2	chr14:81688200-81704800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:81688600-81693200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr14:81688800-81700600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:81689400-81700600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr14:81689600-81693800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:81689800-81690000	Enhancers	Fetal Lung	lung

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