Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:86849704..86853199-chr2:86861014..86865288,5	K562	blood:
2	chr2:86858947..86862298-chr2:86867270..86869681,3	MCF-7	breast:
3	chr2:86859149..86861871-chr2:86863895..86866961,3	MCF-7	breast:
4	chr2:86857823..86859880-chr2:86861018..86863511,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239305	Chromatin interaction
ENSG00000249884	Chromatin interaction

rSNPs within LD-proxies of this variant (count:4)

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	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1011590	chr2:86824181-86906114	Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 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	chr2:86858600-86861200	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr2:86858600-86861200	Enhancers	Brain Germinal Matrix	brain
3	chr2:86858600-86861400	Enhancers	Fetal Muscle Leg	muscle
4	chr2:86858800-86861200	Enhancers	Fetal Intestine Small	intestine
5	chr2:86859000-86861200	Enhancers	Brain Hippocampus Middle	brain
6	chr2:86859200-86861400	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr2:86859200-86861800	Enhancers	Fetal Brain Male	brain
8	chr2:86859400-86861200	Enhancers	Brain Cingulate Gyrus	brain
9	chr2:86859400-86863000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:86860000-86861200	Enhancers	Duodenum Mucosa	Duodenum
11	chr2:86860000-86861200	Enhancers	Pancreas	Pancrea
12	chr2:86860000-86861400	Enhancers	Stomach Mucosa	stomach
13	chr2:86860200-86861200	Enhancers	Liver	Liver
14	chr2:86860400-86861400	Enhancers	Fetal Muscle Trunk	muscle
15	chr2:86860400-86872400	Weak transcription	Placenta	Placenta
16	chr2:86860600-86861400	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr2:86860600-86861600	Weak transcription	Fetal Heart	heart
18	chr2:86860800-86862200	Enhancers	HepG2	liver
19	chr2:86860800-86865000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:86861000-86863200	Weak transcription	Rectal Mucosa Donor 29	rectum

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