Variant report

Variant	rs12361769
Chromosome Location	chr11:86482912-86482913
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86482891..86485610-chr11:86489751..86491616,2	K562	blood:
2	chr11:86472552..86476130-chr11:86481757..86485497,4	MCF-7	breast:
3	chr11:86479312..86481621-chr11:86482374..86485303,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs1075702	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs10792875	0.81[EUR][1000 genomes]
rs10898534	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11234795	0.86[ASN][1000 genomes]
rs11234809	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11601553	0.95[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.82[MKK][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11602695	0.81[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs12366016	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420039	0.82[CHB][hapmap]
rs12421517	0.82[ASN][1000 genomes]
rs12421942	0.86[ASN][1000 genomes]
rs12797648	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12802848	0.94[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12809023	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17211926	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17819068	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17819134	0.82[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs17819181	0.87[CHB][hapmap];0.82[CHD][hapmap]
rs17819187	0.82[CHB][hapmap]
rs1807014	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1939110	0.82[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs1939111	0.82[CHB][hapmap]
rs1939112	0.87[CHB][hapmap]
rs1939113	0.81[CHB][hapmap]
rs1939114	0.82[CHB][hapmap]
rs1939115	0.83[ASN][1000 genomes]
rs1939116	0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs1939117	0.96[ASN][1000 genomes]
rs1954769	0.86[JPT][hapmap]
rs2155081	0.87[CHB][hapmap];0.81[CHD][hapmap]
rs2433409	0.82[CHB][hapmap]
rs2433427	0.82[CHB][hapmap]
rs2433429	0.81[CHB][hapmap]
rs2433433	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs2433434	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs2433435	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs2433436	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs2433438	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs2433439	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs2512996	0.81[CHB][hapmap]
rs2512997	0.81[CHB][hapmap]
rs2513018	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs3096715	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs3096716	0.86[JPT][hapmap]
rs34833002	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35902217	0.96[ASN][1000 genomes]
rs36061072	0.96[ASN][1000 genomes]
rs3809048	0.82[CHB][hapmap];0.92[CHD][hapmap];0.86[JPT][hapmap]
rs4128368	0.95[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4245427	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4269941	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4304806	0.82[CHB][hapmap]
rs4307743	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4423210	0.82[CHB][hapmap]
rs4450192	0.88[ASN][1000 genomes]
rs4485132	0.86[CHB][hapmap]
rs4495915	0.96[ASN][1000 genomes]
rs4570601	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4943958	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4943959	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4943960	0.90[ASN][1000 genomes]
rs4944630	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4944631	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4944632	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4944633	0.91[ASN][1000 genomes]
rs4944634	0.90[ASN][1000 genomes]
rs55646317	0.94[ASN][1000 genomes]
rs58823830	0.82[ASN][1000 genomes]
rs58976693	0.94[ASN][1000 genomes]
rs59850783	0.90[ASN][1000 genomes]
rs60023003	0.90[ASN][1000 genomes]
rs61690902	0.86[ASN][1000 genomes]
rs61707378	0.95[ASN][1000 genomes]
rs6592315	0.91[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7105467	0.98[ASN][1000 genomes]
rs7120185	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7120320	0.90[ASN][1000 genomes]
rs7123349	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7126492	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7131625	0.82[CHB][hapmap]
rs744292	0.94[ASN][1000 genomes]
rs7926235	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7926713	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7926946	0.86[ASN][1000 genomes]
rs7927257	0.86[ASN][1000 genomes]
rs7927479	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7940201	0.93[ASN][1000 genomes]
rs7942344	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7948063	0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7950776	0.88[ASN][1000 genomes]
rs7951582	0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]

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	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv428263	chr11:86357990-86508480	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1049157	chr11:86409059-86504155	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv521505	chr11:86438115-86515072	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	esv2756074	chr11:86456552-86729552	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12361769	CCDC89	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86477800-86484200	Weak transcription	Fetal Stomach	stomach
2	chr11:86480600-86484400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr11:86480800-86484600	Weak transcription	Left Ventricle	heart
4	chr11:86481000-86484000	Weak transcription	Hela-S3	cervix
5	chr11:86482800-86483200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell

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