Variant report

Variant	rs11057393
Chromosome Location	chr12:124403769-124403770
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:124402948..124405033-chr12:124413350..124415168,2	MCF-7	breast:
2	chr12:124397721..124401102-chr12:124402433..124404220,3	K562	blood:

Extended variants
information (count: 97 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10846577	0.83[ASN][1000 genomes]
rs10846578	0.84[ASN][1000 genomes]
rs10846579	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10846580	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11057394	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11057396	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11057397	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11057399	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11057400	0.86[EUR][1000 genomes]
rs11057401	0.86[EUR][1000 genomes]
rs11057407	0.84[EUR][1000 genomes]
rs11057408	0.91[EUR][1000 genomes]
rs11057409	0.91[EUR][1000 genomes]
rs11057412	0.89[EUR][1000 genomes]
rs11057413	0.91[EUR][1000 genomes]
rs11831913	0.84[EUR][1000 genomes]
rs11833002	0.92[EUR][1000 genomes]
rs11835839	0.92[EUR][1000 genomes]
rs11837287	0.91[EUR][1000 genomes]
rs1187415	0.88[EUR][1000 genomes]
rs12296259	0.92[EUR][1000 genomes]
rs12298484	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12301673	0.92[EUR][1000 genomes]
rs12303671	0.88[EUR][1000 genomes]
rs12303933	0.91[EUR][1000 genomes]
rs12310367	0.91[EUR][1000 genomes]
rs12311114	0.83[EUR][1000 genomes]
rs12311848	0.90[EUR][1000 genomes]
rs12316080	0.93[EUR][1000 genomes]
rs12317176	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12809125	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12809473	0.90[EUR][1000 genomes]
rs12823740	0.83[EUR][1000 genomes]
rs12824567	0.81[EUR][1000 genomes]
rs12827409	0.90[EUR][1000 genomes]
rs12829951	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12833624	0.89[EUR][1000 genomes]
rs1882491	0.83[EUR][1000 genomes]
rs2130382	0.83[EUR][1000 genomes]
rs2178663	0.86[EUR][1000 genomes]
rs3186071	0.86[EUR][1000 genomes]
rs34114498	0.89[EUR][1000 genomes]
rs34180676	0.84[EUR][1000 genomes]
rs34854841	0.85[EUR][1000 genomes]
rs34878139	0.92[EUR][1000 genomes]
rs35099862	0.91[EUR][1000 genomes]
rs35825716	0.86[EUR][1000 genomes]
rs3789967	0.90[EUR][1000 genomes]
rs3802999	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4405410	0.93[EUR][1000 genomes]
rs4575361	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4765127	0.91[EUR][1000 genomes]
rs4765148	0.83[EUR][1000 genomes]
rs4765219	0.93[EUR][1000 genomes]
rs4765305	0.92[EUR][1000 genomes]
rs4765335	0.85[EUR][1000 genomes]
rs4765528	0.84[EUR][1000 genomes]
rs4765541	0.90[EUR][1000 genomes]
rs4765562	0.90[EUR][1000 genomes]
rs4930721	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4930722	0.85[EUR][1000 genomes]
rs4930723	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4930724	0.86[EUR][1000 genomes]
rs4930725	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4930726	0.92[EUR][1000 genomes]
rs55990776	0.87[EUR][1000 genomes]
rs56041971	0.91[EUR][1000 genomes]
rs6488912	0.92[EUR][1000 genomes]
rs6488913	0.92[EUR][1000 genomes]
rs6488914	0.86[EUR][1000 genomes]
rs7131882	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7132655	0.92[EUR][1000 genomes]
rs7133378	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7134121	0.91[EUR][1000 genomes]
rs7135314	0.91[EUR][1000 genomes]
rs71458830	0.90[EUR][1000 genomes]
rs7301953	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7305864	0.93[EUR][1000 genomes]
rs7307053	0.82[EUR][1000 genomes]
rs7307277	0.91[EUR][1000 genomes]
rs7311233	0.83[EUR][1000 genomes]
rs7311969	0.90[EUR][1000 genomes]
rs7312404	0.93[EUR][1000 genomes]
rs7955815	0.86[EUR][1000 genomes]
rs7958691	0.92[EUR][1000 genomes]
rs7961449	0.91[EUR][1000 genomes]
rs7966192	0.92[EUR][1000 genomes]
rs7973683	0.91[EUR][1000 genomes]
rs7975482	0.91[EUR][1000 genomes]
rs7978610	0.90[EUR][1000 genomes]
rs952632	0.91[EUR][1000 genomes]
rs9863	0.83[ASN][1000 genomes]
rs9971695	0.94[EUR][1000 genomes];0.93[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	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv1811815	chr12:124374716-124424636	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv1832870	chr12:124374716-124424636	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv522321	chr12:124383950-124424636	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11057393	CCDC92	cis	Heart Left Ventricle	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124384000-124408400	Weak transcription	Fetal Brain Female	brain
2	chr12:124393800-124418000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr12:124394200-124418400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr12:124397600-124404800	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr12:124400400-124417800	Weak transcription	Spleen	Spleen
6	chr12:124402800-124405800	Enhancers	Fetal Brain Male	brain
7	chr12:124403200-124404400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:124403400-124404000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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