Variant report

No.	Distal block	Cell Line	Cell type
1	chr5:127219412..127221913-chr5:127243574..127245487,2	MCF-7	breast:
2	chr5:127212385..127215145-chr5:127219355..127222619,3	MCF-7	breast:
3	chr5:127220419..127223982-chr5:127224683..127227982,4	MCF-7	breast:
4	chr5:127218008..127223291-chr5:127416858..127420836,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000064651	Chromatin interaction
ENSG00000245937	Chromatin interaction

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10491253	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10491254	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11744423	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6894681	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73347072	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr5:127218400-127223200	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr5:127220200-127222000	Enhancers	Psoas Muscle	Psoas
3	chr5:127220200-127222200	Enhancers	Fetal Muscle Leg	muscle
4	chr5:127220200-127222200	Enhancers	HSMMtube	muscle
5	chr5:127220200-127222400	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr5:127220200-127222600	Enhancers	Fetal Intestine Large	intestine
7	chr5:127220200-127222600	Enhancers	Fetal Intestine Small	intestine
8	chr5:127220200-127222800	Enhancers	HUVEC	blood vessel
9	chr5:127220400-127222200	Enhancers	Duodenum Mucosa	Duodenum
10	chr5:127220800-127222600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:127220800-127222600	Enhancers	Fetal Lung	lung
12	chr5:127221000-127222200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:127221200-127222000	Weak transcription	Brain Hippocampus Middle	brain
14	chr5:127221200-127222600	Enhancers	A549	lung
15	chr5:127221200-127226600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr5:127221200-127227400	Weak transcription	Brain Anterior Caudate	brain
17	chr5:127221200-127228200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr5:127221200-127228200	Weak transcription	Fetal Stomach	stomach
19	chr5:127221400-127222000	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr5:127221600-127222000	Flanking Active TSS	Stomach Mucosa	stomach
21	chr5:127221800-127222000	Enhancers	Left Ventricle	heart

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