Variant report

Variant	rs8012361
Chromosome Location	chr14:97213073-97213074
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:97211622..97213197-chr14:97215486..97218319,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10136975	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10139304	0.88[ASN][1000 genomes]
rs10139694	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10143101	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10143369	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10146854	0.91[ASN][1000 genomes]
rs11160362	0.95[ASN][1000 genomes]
rs11160363	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11160364	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11160365	0.80[AMR][1000 genomes]
rs12147403	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12434260	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12880425	0.82[ASN][1000 genomes]
rs12895746	0.93[ASN][1000 genomes]
rs1951837	0.88[ASN][1000 genomes]
rs28670537	0.93[ASN][1000 genomes]
rs2887581	0.93[ASN][1000 genomes]
rs34142794	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34344944	0.88[ASN][1000 genomes]
rs34742182	0.88[ASN][1000 genomes]
rs35981455	0.88[ASN][1000 genomes]
rs4243716	0.93[ASN][1000 genomes]
rs59880225	0.88[ASN][1000 genomes]
rs66487336	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71415050	0.93[ASN][1000 genomes]
rs7157651	0.95[ASN][1000 genomes]
rs737209	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs8009078	0.82[ASN][1000 genomes]
rs8015493	0.93[ASN][1000 genomes]
rs912343	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048302	chr14:97000845-97250538	Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1041078	chr14:97001679-97279220	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1050075	chr14:97004951-97279220	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv1044202	chr14:97155291-97683983	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv542179	chr14:97155291-97683983	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97208800-97213200	Weak transcription	Fetal Brain Male	brain
2	chr14:97212000-97213400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr14:97212400-97213600	Enhancers	Brain Germinal Matrix	brain
4	chr14:97212400-97214600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:97213000-97213200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:97213000-97214000	Enhancers	Fetal Brain Female	brain

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