Variant report

Variant	rs2373387
Chromosome Location	chr7:86745948-86745949
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:86743993..86746929-chr7:86777540..86779629,2	K562	blood:
2	chr7:86743955..86746564-chr7:86769711..86772412,2	K562	blood:
3	chr7:86744672..86746680-chr7:86750084..86752305,2	K562	blood:
4	chr7:86740834..86746276-chr7:86753431..86758713,6	K562	blood:
5	chr7:86735133..86740177-chr7:86744513..86748479,5	K562	blood:

Variant related genes	Relation type
ENSG00000261462	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10085726	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs10228392	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10231010	0.87[EUR][1000 genomes]
rs10238917	0.88[EUR][1000 genomes]
rs10244350	0.89[CEU][hapmap]
rs1024457	1.00[CEU][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10257953	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10270331	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10273853	0.90[CEU][hapmap]
rs10487071	0.88[CHD][hapmap];0.84[MEX][hapmap]
rs10952896	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13237269	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17698411	0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17766011	0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1859124	0.80[CEU][hapmap];0.82[TSI][hapmap]
rs1859125	0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1859126	0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1859127	0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1859128	0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1981536	0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2057984	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2074757	0.84[ASW][hapmap];1.00[CEU][hapmap];0.85[TSI][hapmap];0.95[EUR][1000 genomes]
rs2106951	0.92[ASW][hapmap];0.84[MEX][hapmap]
rs2106954	0.87[ASN][1000 genomes]
rs2108271	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2108272	0.92[ASW][hapmap];1.00[CEU][hapmap];0.85[TSI][hapmap];0.95[EUR][1000 genomes]
rs2190424	1.00[CEU][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs2214351	0.91[CHD][hapmap]
rs2286268	0.92[ASW][hapmap];1.00[CEU][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs2373388	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];0.92[TSI][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2373389	0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3747807	0.92[ASW][hapmap];1.00[CEU][hapmap];0.85[TSI][hapmap];0.95[EUR][1000 genomes]
rs3789251	0.92[ASW][hapmap];1.00[CEU][hapmap];0.85[TSI][hapmap];0.95[EUR][1000 genomes]
rs3789252	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs4140847	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs4400318	0.83[EUR][1000 genomes]
rs4639442	0.91[EUR][1000 genomes]
rs4727146	0.83[EUR][1000 genomes]
rs4728686	0.92[ASW][hapmap];1.00[CEU][hapmap];0.84[TSI][hapmap];0.95[EUR][1000 genomes]
rs4728689	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs56327053	0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs56981276	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6465092	0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6465093	1.00[CEU][hapmap];0.81[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6465101	0.83[EUR][1000 genomes]
rs66470321	0.82[AMR][1000 genomes]
rs6952384	0.83[EUR][1000 genomes]
rs6958626	0.93[CHD][hapmap];0.86[GIH][hapmap];0.95[MEX][hapmap];0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6958797	0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6959152	0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6968640	0.90[CEU][hapmap]
rs6975202	0.83[EUR][1000 genomes]
rs720775	0.91[CHD][hapmap]
rs739711	0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs739712	0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs744136	0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs757961	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs765968	0.95[EUR][1000 genomes]
rs7780698	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7782008	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7810647	0.92[ASW][hapmap];1.00[CEU][hapmap];0.85[TSI][hapmap];0.95[EUR][1000 genomes]
rs875777	0.82[ASN][1000 genomes]
rs886318	0.91[CHD][hapmap];0.86[GIH][hapmap];0.95[MEX][hapmap];0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs886787	1.00[CEU][hapmap];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv532147	chr7:86299225-87121975	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1015870	chr7:86490491-86802320	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
5	nsv539000	chr7:86490491-86802320	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
6	nsv527889	chr7:86496042-86832603	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv1028503	chr7:86684514-86778047	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1033834	chr7:86691235-86770796	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv539002	chr7:86691235-86770796	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1023137	chr7:86725145-86767689	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2373387	C7orf23	cis	parietal	SCAN
rs2373387	C7orf23	cis	cerebellum	SCAN
rs2373387	SLC25A40	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86743200-86752000	Weak transcription	K562	blood

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