Variant report

Variant	rs324145
Chromosome Location	chr6:44254793-44254794
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:44254680-44254830	GM12874	blood:	n/a	n/a
2	CTCF	chr6:44254780-44254930	K562	blood:	n/a	n/a
3	CTCF	chr6:44254760-44254910	GM12864	blood:	n/a	n/a
4	CTCF	chr6:44254748-44254894	K562	blood:	n/a	n/a
5	CTCF	chr6:44254740-44254890	GM12866	blood:	n/a	n/a
6	CTCF	chr6:44254680-44254830	K562	blood:	n/a	n/a
7	CTCF	chr6:44254680-44254950	GM12871	blood:	n/a	n/a
8	CTCF	chr6:44254740-44254890	GM06990	blood:	n/a	n/a
9	CTCF	chr6:44254780-44254930	GM12864	blood:	n/a	n/a
10	CTCF	chr6:44254760-44254910	HEK293	kidney:	n/a	n/a
11	CTCF	chr6:44254700-44254850	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr6:44254781-44254936	K562	blood:	n/a	n/a
13	CTCF	chr6:44254780-44254930	GM12874	blood:	n/a	n/a
14	CTCF	chr6:44254600-44254890	A549	lung:	n/a	n/a
15	CTCF	chr6:44254776-44254890	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr6:44254780-44254930	HepG2	liver:	n/a	n/a
17	CTCF	chr6:44254780-44254930	GM12875	blood:	n/a	n/a
18	CTCF	chr6:44254740-44254890	A549	lung:	n/a	n/a
19	CTCF	chr6:44254720-44254870	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:44254194..44256325-chr6:44258837..44260906,2	MCF-7	breast:

No data

Variant related genes	Relation type
TCTE1	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10807297	0.87[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1123523	0.83[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12205227	0.99[ASN][1000 genomes]
rs12215176	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12664825	1.00[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12943	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs170510	0.87[ASN][1000 genomes]
rs2297335	1.00[ASN][1000 genomes]
rs2297336	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs324138	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs324139	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs324140	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324144	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324146	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324147	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325002	0.81[AMR][1000 genomes]
rs325017	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs325018	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs325019	0.91[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs34865422	0.93[ASN][1000 genomes]
rs3734710	0.87[ASN][1000 genomes]
rs4714773	0.87[ASN][1000 genomes]
rs4714774	0.99[ASN][1000 genomes]
rs498512	0.89[CEU][hapmap];0.81[AMR][1000 genomes]
rs516582	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs524533	0.93[CHD][hapmap];0.82[GIH][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs529948	0.86[CHD][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs545970	0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs551145	0.88[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs557373	1.00[CEU][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs570469	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs571770	0.93[CHD][hapmap];0.82[GIH][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs614715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs651297	0.89[CEU][hapmap];0.83[GIH][hapmap];0.93[LWK][hapmap];0.91[MKK][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs694349	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7772949	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs844315	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9369469	0.99[ASN][1000 genomes]
rs9381305	0.99[ASN][1000 genomes]
rs9381306	0.99[ASN][1000 genomes]
rs9381307	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9381308	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9394999	0.93[ASN][1000 genomes]
rs9395000	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9395001	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv462936	chr6:44191920-44282316	Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv603004	chr6:44191920-44282316	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS 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	101 gene(s)	inside rSNPs	diseases
4	nsv885853	chr6:44197181-44274797	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv885854	chr6:44211867-44274797	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
6	nsv462937	chr6:44211867-44279111	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
7	nsv603005	chr6:44211867-44279111	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs324145	ENPP5	cis	parietal	SCAN
rs324145	PLA2G7	cis	cerebellum	SCAN
rs324145	HSP90AB1	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44244400-44257400	Weak transcription	Pancreas	Pancrea
2	chr6:44244400-44264800	Weak transcription	Right Atrium	heart
3	chr6:44246400-44255400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:44246800-44255400	Weak transcription	Brain Germinal Matrix	brain
5	chr6:44252600-44257400	Weak transcription	Brain Anterior Caudate	brain
6	chr6:44253600-44255400	Weak transcription	Fetal Brain Female	brain
7	chr6:44254000-44255000	Weak transcription	Fetal Brain Male	brain
8	chr6:44254200-44257200	Weak transcription	Spleen	Spleen
9	chr6:44254600-44258600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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