Variant report

Variant	rs10232001
Chromosome Location	chr7:126356347-126356348
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:126354910..126358134-chr7:126363262..126365444,3	K562	blood:
2	7:126085913-126088095..7:126352172-126357573	GM12878	blood:
3	chr7:126354910..126357333-chr7:126363262..126365444,2	K562	blood:

Variant related genes	Relation type
ENSG00000179603	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1008907	0.95[CHB][hapmap];0.86[ASN][1000 genomes]
rs10216158	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs10234189	0.86[CHB][hapmap]
rs10256873	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10279350	0.82[JPT][hapmap]
rs10280247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487458	0.85[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap]
rs10808227	0.81[CHB][hapmap];0.85[CHD][hapmap]
rs10954134	0.81[CHB][hapmap]
rs10954135	0.81[CHB][hapmap]
rs11978951	0.90[CHB][hapmap]
rs12540159	0.83[CHB][hapmap]
rs12706744	0.95[CHB][hapmap];0.89[CHD][hapmap];0.86[ASN][1000 genomes]
rs1362001	0.82[JPT][hapmap]
rs1419493	0.95[CHB][hapmap];0.84[ASN][1000 genomes]
rs1946112	0.81[CHB][hapmap]
rs1946116	0.83[CHD][hapmap];0.82[JPT][hapmap]
rs2237762	0.90[CHB][hapmap]
rs2237767	0.90[CHB][hapmap]
rs2283070	0.80[CHB][hapmap]
rs2299478	0.81[CHB][hapmap]
rs2299486	0.85[CHB][hapmap]
rs2299499	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2299500	0.90[CHB][hapmap]
rs2299513	0.85[JPT][hapmap]
rs2299514	0.82[JPT][hapmap]
rs2896373	0.85[CHB][hapmap]
rs4236623	0.86[CHB][hapmap]
rs4236624	0.86[CHB][hapmap];0.84[CHD][hapmap]
rs4380862	0.86[CHB][hapmap]
rs4728050	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4728051	0.81[JPT][hapmap]
rs6467095	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467096	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467097	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963108	0.90[CHB][hapmap];0.86[ASN][1000 genomes]
rs6969693	0.95[CHB][hapmap];0.86[ASN][1000 genomes]
rs6974018	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs6976797	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs737702	0.90[CHB][hapmap]
rs756900	0.95[CHB][hapmap];0.86[ASN][1000 genomes]
rs7779831	0.90[CHB][hapmap]
rs7780253	0.90[CHB][hapmap];0.86[ASN][1000 genomes]
rs7784073	0.80[CHB][hapmap];0.91[CHD][hapmap]
rs7791956	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7794592	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7801141	0.81[JPT][hapmap]
rs7804521	0.90[CHB][hapmap]
rs886176	0.95[CHB][hapmap];0.89[CHD][hapmap];0.86[ASN][1000 genomes]
rs9649507	0.81[CHB][hapmap];0.85[CHD][hapmap]
rs9969183	0.80[CHB][hapmap];0.84[CHD][hapmap];0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529300	chr7:125669493-126587858	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1032938	chr7:126067684-126587859	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv539119	chr7:126067684-126587859	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv889187	chr7:126219766-126478190	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1032108	chr7:126278349-126362592	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv971569	chr7:126354720-126359366	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10232001	MEST	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126342000-126367800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:126356200-126356800	Enhancers	NHEK	skin

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