Variant report

No.	Distal block	Cell Line	Cell type
1	chr12:104295034..104297157-chr12:104335931..104337836,2	K562	blood:
2	chr12:104294085..104296480-chr12:104308577..104310101,2	K562	blood:
3	chr12:104294934..104297771-chr12:104321554..104323667,2	MCF-7	breast:
4	chr12:104293129..104295287-chr12:104295560..104297769,2	K562	blood:

Variant related genes	Relation type
ENSG00000214198	Chromatin interaction
ENSG00000166598	Chromatin interaction

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10861144	0.81[ASN][1000 genomes]
rs10861145	0.81[ASN][1000 genomes]
rs11111811	0.94[ASN][1000 genomes]
rs11111812	0.94[ASN][1000 genomes]
rs11111814	0.95[ASN][1000 genomes]
rs11111819	0.98[ASN][1000 genomes]
rs11111820	0.98[ASN][1000 genomes]
rs11111825	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111833	0.81[ASN][1000 genomes]
rs11111835	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11111837	0.82[ASN][1000 genomes]
rs11111838	0.82[ASN][1000 genomes]
rs11111839	0.81[ASN][1000 genomes]
rs11111842	0.81[ASN][1000 genomes]
rs11111843	0.81[ASN][1000 genomes]
rs11111844	0.81[ASN][1000 genomes]
rs11111846	0.81[ASN][1000 genomes]
rs11111849	0.82[ASN][1000 genomes]
rs11111850	0.82[ASN][1000 genomes]
rs11830285	1.00[ASN][1000 genomes]
rs11831836	0.81[ASN][1000 genomes]
rs11833702	0.81[ASN][1000 genomes]
rs12228360	0.95[ASN][1000 genomes]
rs17034916	0.81[ASN][1000 genomes]
rs17034931	0.81[ASN][1000 genomes]
rs2576974	0.94[ASN][1000 genomes]
rs3794246	0.81[ASN][1000 genomes]
rs57083451	0.81[ASN][1000 genomes]
rs58929830	0.81[ASN][1000 genomes]
rs58943141	0.81[ASN][1000 genomes]
rs7295489	0.82[ASN][1000 genomes]
rs7302790	0.98[ASN][1000 genomes]
rs7315947	1.00[ASN][1000 genomes]
rs73175819	0.94[ASN][1000 genomes]
rs73175822	0.95[ASN][1000 genomes]
rs73177915	0.81[ASN][1000 genomes]
rs73177918	0.81[ASN][1000 genomes]
rs73177919	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104284000-104299600	Weak transcription	GM12878-XiMat	blood
2	chr12:104288400-104300000	Weak transcription	Brain Hippocampus Middle	brain
3	chr12:104293800-104295400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:104294200-104295200	Enhancers	Primary T cells fromperipheralblood	blood
5	chr12:104294200-104295200	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr12:104294200-104295200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:104294200-104295200	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr12:104294200-104295200	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr12:104294200-104295200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr12:104294200-104295400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr12:104294200-104298600	Enhancers	Fetal Thymus	thymus
12	chr12:104294200-104299000	Enhancers	Thymus	Thymus
13	chr12:104294400-104296000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:104294800-104296000	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr12:104295000-104295600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
16	chr12:104295000-104295800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:104295000-104295800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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