Variant report

Variant	rs10771175
Chromosome Location	chr12:25312648-25312649
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr12:25312371-25312710	HL-60	blood:	n/a	chr12:25312527-25312534 chr12:25312524-25312537 chr12:25312526-25312535

Variant related genes	Relation type
CASC1	TF binding region

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10505959	1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes]
rs10771166	0.86[CHB][hapmap]
rs10771171	0.82[ASN][1000 genomes]
rs10771174	0.89[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs10771176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10842464	0.86[CHB][hapmap]
rs10842467	0.83[AFR][1000 genomes]
rs10842468	0.89[JPT][hapmap];0.83[AFR][1000 genomes]
rs10842470	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10842472	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10842476	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10842483	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10842488	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10842490	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10842491	0.90[ASN][1000 genomes]
rs10842493	0.90[AFR][1000 genomes]
rs10842494	0.81[YRI][hapmap]
rs10842495	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10842496	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs10842515	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs10842516	0.90[CEU][hapmap];0.89[JPT][hapmap]
rs10842517	0.90[CEU][hapmap];0.89[JPT][hapmap]
rs11047825	0.83[YRI][hapmap];0.84[AFR][1000 genomes]
rs11047843	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11047849	0.82[AFR][1000 genomes]
rs11047852	0.82[ASN][1000 genomes]
rs11047858	0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11047862	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11047868	0.93[AFR][1000 genomes]
rs11047870	0.92[AFR][1000 genomes]
rs11047878	0.85[AMR][1000 genomes]
rs11047879	0.85[AMR][1000 genomes]
rs11047885	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs11047903	0.84[AMR][1000 genomes]
rs11047904	0.84[AMR][1000 genomes]
rs11047912	1.00[JPT][hapmap]
rs11047914	0.90[CEU][hapmap];0.90[JPT][hapmap]
rs11047917	0.90[JPT][hapmap]
rs1137282	0.84[AMR][1000 genomes]
rs11834088	0.86[CHB][hapmap]
rs11836509	0.84[AMR][1000 genomes]
rs12227966	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12228638	1.00[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs12367971	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17386824	0.83[AFR][1000 genomes]
rs17388587	1.00[JPT][hapmap]
rs17389103	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs2220196	0.90[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2883030	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3924650	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.84[AMR][1000 genomes]
rs4313666	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4368021	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs4589388	0.80[ASN][1000 genomes]
rs4606562	0.84[AMR][1000 genomes]
rs4963859	0.81[JPT][hapmap]
rs55950027	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6487458	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7133640	0.89[CEU][hapmap];0.90[JPT][hapmap]
rs7134616	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs7135130	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7298636	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs7299998	0.81[YRI][hapmap]
rs7303373	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7303669	1.00[CHB][hapmap]
rs7306769	0.81[YRI][hapmap]
rs7308865	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs7309124	0.90[AFR][1000 genomes]
rs7309670	0.81[CEU][hapmap];0.89[JPT][hapmap]
rs7315339	1.00[JPT][hapmap]
rs7956818	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7960428	0.88[CHB][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs7960917	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs7964623	0.85[AMR][1000 genomes]
rs7965763	0.85[AMR][1000 genomes]
rs7971062	0.88[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs7971288	1.00[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs7973365	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7973450	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs7973623	0.94[CEU][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs7975271	1.00[CHB][hapmap]
rs7976145	0.83[AFR][1000 genomes]
rs7976254	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs7976355	0.84[JPT][hapmap];0.83[AFR][1000 genomes]
rs7977616	0.84[AMR][1000 genomes]
rs7980769	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.85[AMR][1000 genomes]
rs7980834	0.82[AMR][1000 genomes]
rs9634100	1.00[YRI][hapmap];0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469169	chr12:24692383-25357680	Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription 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 miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv557775	chr12:24692383-25357680	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv932477	chr12:24705151-25346677	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1067577	chr12:24791283-25346677	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription 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 miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv529514	chr12:24791283-25346677	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv515612	chr12:25272027-25341177	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv557797	chr12:25272027-25341177	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv898922	chr12:25274593-25408047	Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25304600-25315600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:25311600-25314000	Weak transcription	Primary B cells from cord blood	blood
3	chr12:25312200-25313800	Weak transcription	Primary B cells from peripheral blood	blood

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