Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:30400496..30402774-chr2:30432166..30435110,2	K562	blood:
2	chr2:30399459..30401854-chr2:30884024..30885682,2	K562	blood:
3	chr2:30397576..30399730-chr2:30399801..30402888,3	K562	blood:

Variant related genes	Relation type
ENSG00000231712	Chromatin interaction

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1509578	1.00[JPT][hapmap]
rs1868072	1.00[JPT][hapmap]
rs1868073	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2084336	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4952099	1.00[JPT][hapmap]
rs4952101	1.00[JPT][hapmap]
rs6737446	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription 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	32 gene(s)	inside rSNPs	diseases
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription 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	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30388400-30401000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr2:30388800-30401400	Weak transcription	HSMMtube	muscle
3	chr2:30388800-30407200	Weak transcription	Brain Hippocampus Middle	brain
4	chr2:30397800-30401600	Weak transcription	Right Atrium	heart
5	chr2:30399400-30402000	Weak transcription	Psoas Muscle	Psoas
6	chr2:30400000-30405000	Enhancers	K562	blood
7	chr2:30400400-30402400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:30400400-30402600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr2:30400400-30403600	Enhancers	Left Ventricle	heart
10	chr2:30400600-30401000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr2:30400600-30402400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:30400600-30402400	Enhancers	Spleen	Spleen
13	chr2:30400600-30402600	Enhancers	Lung	lung
14	chr2:30400600-30403000	Enhancers	Right Ventricle	heart
15	chr2:30400800-30401000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
16	chr2:30400800-30401600	Enhancers	Placenta	Placenta
17	chr2:30400800-30401800	Weak transcription	Esophagus	oesophagus
18	chr2:30400800-30402200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr2:30400800-30402200	Weak transcription	Small Intestine	intestine
20	chr2:30400800-30402400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:30400800-30404400	Enhancers	Fetal Heart	heart

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