Variant report

Variant	rs9291710
Chromosome Location	chr5:60541910-60541911
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:60539963..60542847-chr5:60626158..60628518,2	MCF-7	breast:
2	chr5:60541894..60543615-chr5:60545934..60547719,2	MCF-7	breast:
3	chr5:60456697..60458581-chr5:60540056..60542283,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251279	Chromatin interaction
ENSG00000188725	Chromatin interaction
ENSG00000130449	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10939886	0.97[ASN][1000 genomes]
rs12513581	0.96[ASN][1000 genomes]
rs159360	0.97[ASN][1000 genomes]
rs2055375	0.94[ASN][1000 genomes]
rs34627	0.97[ASN][1000 genomes]
rs34631	0.97[ASN][1000 genomes]
rs34634	0.81[ASN][1000 genomes]
rs40506	0.97[ASN][1000 genomes]
rs476099	0.97[ASN][1000 genomes]
rs62366215	0.93[ASN][1000 genomes]
rs6864095	0.98[ASN][1000 genomes]
rs6864489	0.98[ASN][1000 genomes]
rs6868457	0.88[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.93[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	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60541000-60542000	Enhancers	Fetal Brain Male	brain
2	chr5:60541000-60542000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
3	chr5:60541000-60542000	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr5:60541000-60542000	Enhancers	HMEC	breast
5	chr5:60541000-60542200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr5:60541000-60542200	Enhancers	NHEK	skin
7	chr5:60541200-60542000	Enhancers	Fetal Muscle Leg	muscle
8	chr5:60541200-60542000	Enhancers	NHDF-Ad	bronchial
9	chr5:60541200-60542000	Flanking Active TSS	Osteobl	bone
10	chr5:60541200-60542200	Enhancers	Lung	lung
11	chr5:60541400-60542000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:60541400-60542000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:60541400-60542000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:60541400-60542000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:60541400-60542000	Enhancers	Fetal Lung	lung
16	chr5:60541400-60542000	Enhancers	Gastric	stomach
17	chr5:60541400-60542000	Enhancers	Left Ventricle	heart
18	chr5:60541400-60542000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
19	chr5:60541400-60542000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr5:60541400-60542000	Flanking Active TSS	HSMMtube	muscle
21	chr5:60541400-60542000	Enhancers	NHLF	lung
22	chr5:60541400-60542200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr5:60541400-60542200	Enhancers	Pancreas	Pancrea
24	chr5:60541400-60542800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr5:60541600-60542000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr5:60541600-60542000	Flanking Active TSS	Fetal Brain Female	brain
27	chr5:60541600-60542000	Enhancers	Placenta	Placenta
28	chr5:60541600-60542400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr5:60541600-60548400	Weak transcription	Brain Hippocampus Middle	brain
30	chr5:60541800-60542000	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr5:60541800-60542000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:60541800-60542000	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr5:60541800-60542000	Enhancers	Stomach Mucosa	stomach
34	chr5:60541800-60542200	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr5:60541800-60542200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:60541800-60542200	Enhancers	Ovary	ovary
37	chr5:60541800-60542200	Enhancers	HSMM	muscle
38	chr5:60541800-60552600	Weak transcription	A549	lung

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