Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:30423211..30427033-chr2:30454044..30455950,5	K562	blood:
2	chr2:30423052..30424595-chr2:30426160..30428329,2	K562	blood:
3	chr2:30418543..30421421-chr2:30423610..30426357,3	K562	blood:
4	chr2:30426110..30428450-chr2:30443267..30445317,2	K562	blood:

Variant related genes	Relation type
ENSG00000213626	Chromatin interaction

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11681599	0.84[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv873768	chr2:30403762-30436249	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30415000-30431400	Weak transcription	Right Atrium	heart
2	chr2:30423800-30431400	Weak transcription	Fetal Stomach	stomach
3	chr2:30424400-30428600	Enhancers	Adipose Nuclei	Adipose
4	chr2:30424600-30426400	Enhancers	Brain Hippocampus Middle	brain
5	chr2:30424600-30426400	Enhancers	Rectal Smooth Muscle	rectum
6	chr2:30425200-30426200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:30425200-30426600	Enhancers	Brain Substantia Nigra	brain
8	chr2:30425200-30429600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:30425200-30431400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:30425400-30427800	Weak transcription	Fetal Lung	lung
11	chr2:30425400-30429600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:30425800-30426400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:30425800-30426400	Enhancers	Left Ventricle	heart
14	chr2:30425800-30426400	Enhancers	Ovary	ovary
15	chr2:30425800-30426600	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr2:30425800-30426800	Enhancers	Fetal Heart	heart
17	chr2:30426000-30426400	Flanking Active TSS	Colon Smooth Muscle	Colon
18	chr2:30426000-30426400	Enhancers	Lung	lung
19	chr2:30426000-30426400	Enhancers	Pancreas	Pancrea
20	chr2:30426000-30426400	Enhancers	Right Ventricle	heart

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