Variant report

Variant	rs12783472
Chromosome Location	chr10:983033-983034
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:982430..985000-chr10:1101533..1103451,2	K562	blood:
2	chr10:981522..983775-chr10:1008969..1010630,2	K562	blood:
3	chr10:982121..984896-chr10:984955..986688,2	K562	blood:
4	chr10:980826..983608-chr10:1003068..1004956,2	K562	blood:
5	chr10:980642..983775-chr10:1008969..1010804,3	K562	blood:
6	chr10:981472..983740-chr10:1094452..1096792,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000067064	Chromatin interaction
ENSG00000047056	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs1013505	1.00[ASN][1000 genomes]
rs10508208	1.00[ASN][1000 genomes]
rs10904577	1.00[ASN][1000 genomes]
rs10904580	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10904581	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10904583	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10904584	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1106064	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253458	1.00[ASN][1000 genomes]
rs11253460	1.00[ASN][1000 genomes]
rs11253465	1.00[ASN][1000 genomes]
rs11253467	1.00[ASN][1000 genomes]
rs11253468	1.00[ASN][1000 genomes]
rs11253473	1.00[ASN][1000 genomes]
rs11253475	1.00[ASN][1000 genomes]
rs11253485	1.00[ASN][1000 genomes]
rs11253488	1.00[ASN][1000 genomes]
rs11253492	1.00[ASN][1000 genomes]
rs11253493	1.00[ASN][1000 genomes]
rs11253494	1.00[ASN][1000 genomes]
rs11253499	1.00[ASN][1000 genomes]
rs11253509	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253511	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253513	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253517	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253520	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11253521	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11812170	1.00[ASN][1000 genomes]
rs11812523	1.00[ASN][1000 genomes]
rs11813210	1.00[ASN][1000 genomes]
rs11815185	1.00[ASN][1000 genomes]
rs11816064	1.00[ASN][1000 genomes]
rs11817793	1.00[ASN][1000 genomes]
rs11818288	1.00[ASN][1000 genomes]
rs11818325	1.00[ASN][1000 genomes]
rs12240651	1.00[ASN][1000 genomes]
rs12244253	1.00[ASN][1000 genomes]
rs12244355	1.00[ASN][1000 genomes]
rs12249634	1.00[ASN][1000 genomes]
rs12249828	1.00[ASN][1000 genomes]
rs12250936	1.00[ASN][1000 genomes]
rs12250937	1.00[ASN][1000 genomes]
rs12251396	1.00[ASN][1000 genomes]
rs12254002	1.00[ASN][1000 genomes]
rs12258388	1.00[ASN][1000 genomes]
rs12259338	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12259720	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12259801	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12260800	1.00[ASN][1000 genomes]
rs12261911	1.00[ASN][1000 genomes]
rs12264390	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12264711	1.00[ASN][1000 genomes]
rs12267709	1.00[ASN][1000 genomes]
rs12354639	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12359645	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12360270	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12761424	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12762973	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12763396	1.00[ASN][1000 genomes]
rs12764024	1.00[ASN][1000 genomes]
rs12765174	1.00[ASN][1000 genomes]
rs12766381	1.00[ASN][1000 genomes]
rs12769431	1.00[ASN][1000 genomes]
rs12769873	1.00[ASN][1000 genomes]
rs12770190	1.00[ASN][1000 genomes]
rs12778891	1.00[ASN][1000 genomes]
rs13377166	1.00[ASN][1000 genomes]
rs1341742	1.00[ASN][1000 genomes]
rs1539174	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1555899	1.00[ASN][1000 genomes]
rs17159950	1.00[ASN][1000 genomes]
rs17159970	1.00[ASN][1000 genomes]
rs2050944	1.00[ASN][1000 genomes]
rs34254874	1.00[ASN][1000 genomes]
rs34270014	1.00[ASN][1000 genomes]
rs34284130	1.00[ASN][1000 genomes]
rs34405399	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34433840	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34847097	1.00[ASN][1000 genomes]
rs35174953	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35394603	1.00[ASN][1000 genomes]
rs35567307	1.00[ASN][1000 genomes]
rs35637113	1.00[ASN][1000 genomes]
rs35693858	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35825568	1.00[ASN][1000 genomes]
rs35968821	1.00[ASN][1000 genomes]
rs4522091	1.00[ASN][1000 genomes]
rs56318703	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56347655	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61830929	1.00[ASN][1000 genomes]
rs61830932	1.00[ASN][1000 genomes]
rs7067865	1.00[ASN][1000 genomes]
rs7074642	1.00[ASN][1000 genomes]
rs7077278	1.00[ASN][1000 genomes]
rs72778229	1.00[ASN][1000 genomes]
rs765867	1.00[ASN][1000 genomes]
rs7908138	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916591	chr10:224406-1088734	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv540386	chr10:224406-1197416	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1054659	chr10:611444-1133578	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv466697	chr10:734229-1129527	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv549765	chr10:734229-1129527	Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv530116	chr10:776548-1401075	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv948978	chr10:813426-1019115	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1052540	chr10:887562-1300134	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv540407	chr10:887562-1300134	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	nsv533861	chr10:945438-1382068	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	nsv530117	chr10:945438-1729634	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
12	nsv540408	chr10:955835-1260680	Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
13	nsv825207	chr10:957020-1005451	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv817532	chr10:964660-1885945	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers 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	39 gene(s)	inside rSNPs	diseases
15	nsv825208	chr10:965883-1004836	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:978200-985000	Weak transcription	Spleen	Spleen
2	chr10:978200-985400	Weak transcription	Brain Angular Gyrus	brain
3	chr10:978400-984800	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr10:978400-985800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr10:979200-983200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr10:979200-984800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr10:979400-983800	Weak transcription	Psoas Muscle	Psoas
8	chr10:979800-985000	Weak transcription	Dnd41	blood
9	chr10:980000-985000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr10:981400-983400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr10:982200-983200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
12	chr10:982200-983600	Enhancers	GM12878-XiMat	blood
13	chr10:982400-983200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr10:983000-983600	Enhancers	Placenta	Placenta

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