Variant report

Variant	rs9568014
Chromosome Location	chr13:48711793-48711794
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr13:48711793-48711813	K562	blood:	n/a	n/a
2	CTCF	chr13:48711760-48711910	GM12871	blood:	n/a	n/a

Variant related genes	Relation type
POLR2KP2	TF binding region

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1327655	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1571256	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs2104480	0.86[CHB][hapmap]
rs2148246	0.87[CHB][hapmap]
rs2148938	0.87[CHB][hapmap]
rs2406709	0.87[CHB][hapmap]
rs3809330	0.94[CEU][hapmap];0.87[YRI][hapmap];0.86[AMR][1000 genomes]
rs3949847	0.87[CEU][hapmap];0.84[YRI][hapmap]
rs4941623	0.86[CHB][hapmap]
rs4941627	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4942742	0.87[AMR][1000 genomes]
rs4942743	0.94[CEU][hapmap];0.87[AMR][1000 genomes]
rs4942747	0.94[CEU][hapmap];0.83[YRI][hapmap];0.87[AMR][1000 genomes]
rs4942748	0.87[AMR][1000 genomes]
rs4942749	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4942750	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4942751	0.95[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4942752	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs59829900	0.90[AMR][1000 genomes]
rs6561434	0.88[AMR][1000 genomes]
rs7317431	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7318704	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7322766	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7324484	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs7331551	0.89[AMR][1000 genomes]
rs7332147	0.89[AMR][1000 genomes]
rs7332326	0.95[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7333247	0.96[AMR][1000 genomes]
rs7338844	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7338999	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7339370	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7986400	0.87[AMR][1000 genomes]
rs7990060	0.94[CEU][hapmap];0.84[YRI][hapmap];0.87[AMR][1000 genomes]
rs9316348	0.94[CEU][hapmap];0.83[YRI][hapmap];0.87[AMR][1000 genomes]
rs9316352	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9316353	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9316354	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9316355	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9316356	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9316357	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9316358	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9316359	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9316360	0.85[AFR][1000 genomes]
rs9316362	0.82[AMR][1000 genomes]
rs9526446	0.84[ASN][1000 genomes]
rs9534939	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs9534944	0.86[CHB][hapmap]
rs9534965	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs9562806	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9562808	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9567994	0.84[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.87[AMR][1000 genomes]
rs9567999	0.84[AMR][1000 genomes]
rs9568000	0.91[AMR][1000 genomes]
rs9568001	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9568002	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9568003	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9568004	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9568005	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9568006	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9568008	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9568009	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9568010	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9568015	0.85[AFR][1000 genomes]
rs9591135	0.87[AMR][1000 genomes]
rs9591138	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9591139	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9591140	0.81[AFR][1000 genomes]
rs9595835	0.94[CEU][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes]
rs9595851	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[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	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv541766	chr13:48703229-48857639	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1047140	chr13:48703732-48765860	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv541767	chr13:48703732-48765860	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48701800-48725800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:48702200-48713800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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