Variant report

Variant	rs868814
Chromosome Location	chr14:65584508-65584509
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65583698..65586091-chr14:65722041..65724216,2	MCF-7	breast:
2	chr14:65583557..65585174-chr14:65692284..65694348,2	MCF-7	breast:
3	chr14:65583908..65586775-chr14:65587093..65588708,2	MCF-7	breast:
4	chr14:65583773..65586772-chr9:138391017..138393563,2	MCF-7	breast:
5	chr14:65568779..65571634-chr14:65582917..65585589,3	MCF-7	breast:
6	chr14:65565119..65567399-chr14:65583912..65586041,2	MCF-7	breast:
7	chr14:65583338..65585299-chr14:65708352..65712057,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122140	Chromatin interaction
ENSG00000125952	Chromatin interaction
ENSG00000160345	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10143198	0.81[CEU][hapmap]
rs11158572	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11158573	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11158574	0.90[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11158577	0.88[CEU][hapmap];0.81[GIH][hapmap];0.80[MEX][hapmap];0.85[TSI][hapmap];0.90[EUR][1000 genomes]
rs11623603	0.83[EUR][1000 genomes]
rs11625045	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.92[MEX][hapmap];0.90[ASN][1000 genomes]
rs11626156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11626496	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11627859	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12100605	0.82[EUR][1000 genomes]
rs12147959	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12880781	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12884836	0.87[ASN][1000 genomes]
rs12887607	0.88[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12888794	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17102423	0.88[EUR][1000 genomes]
rs17825846	0.84[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1953228	0.93[ASN][1000 genomes]
rs1957949	0.81[CEU][hapmap]
rs2151755	0.81[CEU][hapmap];0.80[EUR][1000 genomes]
rs2898863	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34062462	0.91[ASN][1000 genomes]
rs34459643	0.82[EUR][1000 genomes]
rs35002541	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35176994	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35520739	0.80[EUR][1000 genomes]
rs35769504	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs45604339	0.81[ASN][1000 genomes]
rs4899161	0.84[CHB][hapmap];0.85[MEX][hapmap]
rs4902358	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.92[MEX][hapmap];0.82[ASN][1000 genomes]
rs4902362	0.87[EUR][1000 genomes]
rs4902363	0.83[EUR][1000 genomes]
rs4902364	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4902365	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4902367	0.91[ASN][1000 genomes]
rs55658675	0.93[ASN][1000 genomes]
rs7143495	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.92[MEX][hapmap];0.89[ASN][1000 genomes]
rs7144259	0.91[CHB][hapmap];0.94[JPT][hapmap]
rs7146939	0.86[EUR][1000 genomes]
rs7154852	0.93[ASN][1000 genomes]
rs7156617	0.84[CHB][hapmap];0.85[MEX][hapmap]
rs7161394	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs762810	0.82[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.92[MEX][hapmap];0.81[ASN][1000 genomes]
rs8004805	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8005829	0.80[EUR][1000 genomes]
rs8009396	0.90[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8009714	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8015330	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8018788	0.82[EUR][1000 genomes]
rs8181937	0.93[ASN][1000 genomes]
rs8181938	0.93[ASN][1000 genomes]
rs8181939	0.87[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.93[ASN][1000 genomes]
rs884683	0.82[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs942627	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs942629	0.81[CEU][hapmap]
rs998247	0.81[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832816	chr14:65473244-65644645	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs868814	MAX	cis	parietal	SCAN
rs868814	SIX4	cis	cerebellum	SCAN
rs868814	GPX2	cis	cerebellum	SCAN
rs868814	CHURC1	cis	parietal	SCAN
rs868814	ITM2C	trans	lymphoblastoid	seeQTL
rs868814	MAX	cis	multi-tissue	Pritchard
rs868814	CHURC1	cis	multi-tissue	Pritchard
rs868814	RAB15	cis	cerebellum	SCAN
rs868814	CHRNA5	trans	cerebellum	SCAN
rs868814	RAB15	cis	lymphoblastoid	seeQTL
rs868814	MAX	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65583800-65585000	Enhancers	Psoas Muscle	Psoas
2	chr14:65583800-65585000	Enhancers	GM12878-XiMat	blood
3	chr14:65583800-65585400	Enhancers	Lung	lung
4	chr14:65584400-65585400	Enhancers	Ovary	ovary

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