Variant report

Variant	rs10145396
Chromosome Location	chr14:97255679-97255680
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:97251859..97256627-chr14:97261114..97265301,5	K562	blood:
2	chr14:97252075..97254821-chr14:97254880..97257598,2	K562	blood:

Variant related genes	Relation type
ENSG00000100749	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10131890	1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10132065	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10132573	0.81[ASN][1000 genomes]
rs10135222	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10135234	0.82[CHD][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs10135283	0.82[CHD][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs10144908	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10873474	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11160371	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12590723	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17310204	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1957134	0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs1957135	0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs2145638	0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs2145639	0.82[ASN][1000 genomes]
rs2369898	0.84[ASN][1000 genomes]
rs3825576	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61078535	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61980999	0.81[ASN][1000 genomes]
rs67722203	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67804110	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67957817	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7160250	0.93[CHB][hapmap];0.89[CHD][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs722869	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8005791	0.85[CHB][hapmap]

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	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
2	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
3	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
4	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
5	nsv510650	chr14:97238489-97325221	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10145396	SERPINA3	cis	parietal	SCAN
rs10145396	VRK1	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97254400-97255800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr14:97254400-97261400	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr14:97254800-97260200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr14:97255000-97257600	Enhancers	Monocytes-CD14+_RO01746	blood

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