Variant report

Variant	rs2468181
Chromosome Location	chr8:120189729-120189730
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:120183437..120185122-chr8:120187205..120189919,2	MCF-7	breast:
2	chr8:120189628..120192008-chr8:120202679..120205401,2	MCF-7	breast:
3	chr8:120187989..120192991-chr8:120219405..120223053,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147676	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs13265548	0.91[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1364709	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1385498	0.82[CEU][hapmap]
rs1425055	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1872424	0.80[CEU][hapmap]
rs2242313	0.82[CEU][hapmap]
rs2432961	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2450076	0.80[CEU][hapmap]
rs2450080	0.82[CEU][hapmap]
rs2465375	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2465376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2465378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2468174	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2468177	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2468179	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2468180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2468182	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2468183	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56271306	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7832277	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758169	chr8:119943309-120275750	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2759639	chr8:119943309-120275750	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120188200-120190200	Enhancers	HMEC	breast
2	chr8:120188600-120190000	Enhancers	Pancreas	Pancrea
3	chr8:120188600-120190200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:120188800-120189800	Active TSS	Colonic Mucosa	Colon
5	chr8:120188800-120190200	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr8:120188800-120190200	Flanking Active TSS	NHEK	skin
7	chr8:120189000-120190200	Flanking Active TSS	Hela-S3	cervix
8	chr8:120189200-120189800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr8:120189200-120189800	Enhancers	Fetal Kidney	kidney
10	chr8:120189200-120190000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:120189200-120190000	Active TSS	Duodenum Mucosa	Duodenum
12	chr8:120189200-120190000	Enhancers	Fetal Muscle Leg	muscle
13	chr8:120189200-120190000	Enhancers	Right Atrium	heart
14	chr8:120189200-120190200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:120189200-120190200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:120189200-120191000	Enhancers	Adipose Nuclei	Adipose
17	chr8:120189400-120189800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr8:120189400-120189800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr8:120189400-120189800	Flanking Active TSS	Fetal Intestine Large	intestine
20	chr8:120189400-120189800	Flanking Active TSS	Fetal Intestine Small	intestine
21	chr8:120189400-120189800	Enhancers	Placenta Amnion	Placenta Amnion
22	chr8:120189400-120189800	Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr8:120189400-120189800	Active TSS	Stomach Mucosa	stomach
24	chr8:120189400-120190000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr8:120189400-120190000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr8:120189400-120190000	Enhancers	Fetal Brain Male	brain
27	chr8:120189600-120189800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr8:120189600-120189800	Bivalent Enhancer	Osteobl	bone
29	chr8:120189600-120190000	Flanking Active TSS	Esophagus	oesophagus
30	chr8:120189600-120190000	Enhancers	Fetal Heart	heart

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