Variant report

Variant	rs737209
Chromosome Location	chr14:97213346-97213347
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10131890	0.84[CHB][hapmap]
rs10135222	0.84[CHB][hapmap]
rs10136975	0.99[ASN][1000 genomes]
rs10139304	0.91[ASN][1000 genomes]
rs10139694	0.99[ASN][1000 genomes]
rs10143101	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10143369	0.85[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs10145396	0.84[CHB][hapmap]
rs10146854	0.96[ASN][1000 genomes]
rs11160362	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11160363	0.99[ASN][1000 genomes]
rs11629293	0.83[ASN][1000 genomes]
rs12147403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12434260	0.99[ASN][1000 genomes]
rs12880425	0.84[CHB][hapmap];0.86[CHD][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs12895746	0.99[ASN][1000 genomes]
rs17310204	0.83[CHB][hapmap]
rs1951837	0.91[ASN][1000 genomes]
rs28670537	0.99[ASN][1000 genomes]
rs2887581	0.99[ASN][1000 genomes]
rs34142794	0.99[ASN][1000 genomes]
rs34344944	0.93[ASN][1000 genomes]
rs34742182	0.91[ASN][1000 genomes]
rs35981455	0.93[ASN][1000 genomes]
rs4243716	0.99[ASN][1000 genomes]
rs4578584	0.82[ASN][1000 genomes]
rs59880225	0.93[ASN][1000 genomes]
rs66487336	0.85[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs71415050	0.99[ASN][1000 genomes]
rs7157651	0.97[ASN][1000 genomes]
rs7160250	0.92[CHB][hapmap]
rs8005791	0.84[CHB][hapmap]
rs8009078	0.84[ASN][1000 genomes]
rs8012361	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs8014262	0.82[ASN][1000 genomes]
rs8015493	0.99[ASN][1000 genomes]
rs872954	0.84[JPT][hapmap]
rs912343	0.97[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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs737209	BDKRB1	cis	parietal	SCAN
rs737209	ATG2B	cis	cerebellum	SCAN
rs737209	CCDC85C	cis	parietal	SCAN
rs737209	TRIP11	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97212000-97213400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr14:97212400-97213600	Enhancers	Brain Germinal Matrix	brain
3	chr14:97212400-97214600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:97213000-97214000	Enhancers	Fetal Brain Female	brain
5	chr14:97213200-97215000	Enhancers	Fetal Brain Male	brain

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