Variant report

Variant	rs2417745
Chromosome Location	chr12:10715012-10715013
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:10389063..10390009-chr12:10714674..10715483,2	K562	blood:
2	chr12:10484283..10485072-chr12:10714510..10715568,4	K562	blood:
3	chr12:10388060..10389289-chr12:10714524..10715522,5	MCF-7	breast:
4	chr12:10713530..10716257-chr12:10762530..10764410,2	MCF-7	breast:
5	chr12:10388138..10389062-chr12:10714617..10715220,3	K562	blood:
6	chr12:10483978..10484906-chr12:10714545..10715159,3	MCF-7	breast:
7	chr12:10484385..10484963-chr12:10714626..10715246,2	MCF-7	breast:
8	chr12:10714679..10715464-chr12:10826841..10827362,2	MCF-7	breast:
9	chr12:10714739..10715346-chr12:10902495..10903116,2	K562	blood:
10	chr12:10305944..10306449-chr12:10714647..10715601,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000060140	Chromatin interaction
ENSG00000256888	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10734838	0.81[ASN][1000 genomes]
rs10743910	0.81[ASN][1000 genomes]
rs10772319	0.81[ASN][1000 genomes]
rs10772321	0.81[ASN][1000 genomes]
rs10772323	0.81[ASN][1000 genomes]
rs10772326	0.81[ASN][1000 genomes]
rs10772327	0.81[ASN][1000 genomes]
rs10845161	0.81[JPT][hapmap]
rs10845162	0.82[AFR][1000 genomes]
rs10845165	0.93[AFR][1000 genomes]
rs10845171	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10845172	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10845173	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10845175	0.81[JPT][hapmap]
rs11053860	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11053861	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11053868	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11053869	0.81[ASN][1000 genomes]
rs11053870	0.81[ASN][1000 genomes]
rs11053874	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11611202	0.82[JPT][hapmap]
rs12312462	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12423957	0.82[JPT][hapmap]
rs1915322	0.93[AFR][1000 genomes]
rs1915323	0.89[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2002157	0.81[JPT][hapmap]
rs2125093	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2125096	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2168750	0.81[ASN][1000 genomes]
rs2417746	0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs2417748	0.93[AFR][1000 genomes]
rs2607883	0.95[JPT][hapmap]
rs2607885	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2607886	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2607887	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2607888	0.95[JPT][hapmap]
rs2607889	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2607890	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2607891	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2607892	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2607893	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2607895	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2607896	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2607898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2682474	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2682476	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3816567	0.81[JPT][hapmap]
rs3983544	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs3983545	0.81[ASN][1000 genomes]
rs3983546	0.81[ASN][1000 genomes]
rs4076336	0.83[ASN][1000 genomes]
rs4237929	0.83[ASN][1000 genomes]
rs4763552	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4763559	0.81[ASN][1000 genomes]
rs6488306	0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs6488307	0.81[ASN][1000 genomes]
rs7134658	0.81[ASN][1000 genomes]
rs7134908	0.81[ASN][1000 genomes]
rs7306285	0.81[ASN][1000 genomes]
rs7358656	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7488589	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953221	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971934	0.81[ASN][1000 genomes]
rs7978850	0.81[JPT][hapmap]
rs7980411	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898766	chr12:10537269-10722585	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv557459	chr12:10560591-10729821	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv898772	chr12:10622047-10722585	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv557479	chr12:10644663-10729821	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv898773	chr12:10660850-10722585	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv898774	chr12:10666025-10722585	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv898775	chr12:10668694-10735786	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1039120	chr12:10675930-10755446	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv832329	chr12:10677094-10845946	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10710800-10724800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:10713200-10715400	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr12:10714000-10716000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr12:10714000-10733200	Weak transcription	Primary T cells from cord blood	blood
5	chr12:10714400-10717000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:10714600-10716000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr12:10714600-10718400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:10714800-10715400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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