Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:55101023..55103444-chr2:55105137..55107687,2	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10179594	0.82[CHB][hapmap]
rs10196667	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs10432677	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10746530	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs11125551	0.81[JPT][hapmap]
rs12052579	0.93[ASN][1000 genomes]
rs1371019	0.85[ASN][1000 genomes]
rs17417648	1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs2116491	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2920881	0.82[CHB][hapmap]
rs2920883	0.82[CHB][hapmap]
rs2920897	0.82[CHB][hapmap]
rs2968789	0.82[CHB][hapmap]
rs2968829	0.82[CHB][hapmap]
rs4671980	0.85[ASN][1000 genomes]
rs4671983	0.90[ASN][1000 genomes]
rs4671984	0.94[ASN][1000 genomes]
rs57401377	0.88[ASN][1000 genomes]
rs6545462	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs73938635	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1005449	chr2:54938633-55129503	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv1796192	chr2:55081033-55110969	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv834069	chr2:55096597-55251680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55068400-55109000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:55068600-55122400	Weak transcription	Brain Anterior Caudate	brain
3	chr2:55078800-55106800	Weak transcription	Brain Angular Gyrus	brain
4	chr2:55081400-55122400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:55087800-55126000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:55092400-55111000	Weak transcription	Pancreas	Pancrea
7	chr2:55095200-55148200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr2:55100000-55104200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:55100200-55102200	Weak transcription	Psoas Muscle	Psoas
10	chr2:55100200-55106400	Weak transcription	HSMM	muscle
11	chr2:55100600-55105000	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:55100600-55106600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:55100600-55106800	Weak transcription	Fetal Brain Male	brain
14	chr2:55101400-55107000	Weak transcription	Fetal Brain Female	brain
15	chr2:55101800-55104400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr2:55102000-55102200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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