Variant report

Variant	rs16845468
Chromosome Location	chr1:226201716-226201717
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:226193958..226196846-chr1:226201490..226204500,3	K562	blood:
2	chr1:226199148..226201886-chr1:226278380..226281272,2	K562	blood:
3	chr1:226199050..226201994-chr1:226204544..226206828,2	MCF-7	breast:
4	chr1:226201529..226203979-chr1:226206128..226208883,3	K562	blood:
5	chr1:226200556..226204840-chr1:226247964..226254138,7	K562	blood:
6	chr1:226195241..226198777-chr1:226199987..226202948,4	K562	blood:
7	chr1:226200556..226202917-chr1:226249222..226251858,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272562	Chromatin interaction
ENSG00000163041	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11586667	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11590226	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11808474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11809941	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1885254	1.00[MEX][hapmap];0.80[TSI][hapmap]
rs1998273	0.83[MEX][hapmap];0.83[EUR][1000 genomes]
rs2755094	0.90[MEX][hapmap]
rs2755097	0.92[MEX][hapmap]
rs2816323	0.84[MEX][hapmap];0.86[EUR][1000 genomes]
rs2816324	0.84[MEX][hapmap];0.86[EUR][1000 genomes]
rs2816326	0.84[MEX][hapmap];0.81[EUR][1000 genomes]
rs3795442	0.86[JPT][hapmap]
rs66514719	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66791434	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6681666	0.86[JPT][hapmap]
rs66934363	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67269884	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67523369	0.90[EUR][1000 genomes]
rs73100512	0.90[EUR][1000 genomes]
rs73100535	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7554619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][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	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv2762223	chr1:226025175-226201716	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16845468	CNIH4	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226192400-226204400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:226192800-226202200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:226199000-226202200	Weak transcription	GM12878-XiMat	blood
4	chr1:226201600-226202800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr1:226201600-226203200	Enhancers	K562	blood
6	chr1:226201600-226203400	Enhancers	Spleen	Spleen

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