Variant report

Variant	rs748100
Chromosome Location	chr8:126605674-126605675
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:126551415..126553791-chr8:126604012..126607735,3	MCF-7	breast:
2	chr8:126440732..126445779-chr8:126600349..126612045,20	MCF-7	breast:
3	chr8:126602958..126605776-chr8:126609153..126611231,2	MCF-7	breast:
4	chr8:126509004..126511702-chr8:126604698..126606294,2	MCF-7	breast:
5	chr8:126520525..126522060-chr8:126604216..126606404,2	MCF-7	breast:
6	chr8:126584493..126586027-chr8:126604796..126607336,2	MCF-7	breast:
7	chr8:126455135..126457376-chr8:126604842..126607089,2	MCF-7	breast:
8	chr8:126585008..126593535-chr8:126599853..126611131,18	MCF-7	breast:
9	chr8:126507152..126508926-chr8:126605095..126607004,2	MCF-7	breast:
10	chr8:126601003..126603272-chr8:126603536..126606567,4	MCF-7	breast:
11	chr8:126449216..126452088-chr8:126604011..126606730,3	MCF-7	breast:
12	chr8:126593642..126596532-chr8:126599701..126606279,16	MCF-7	breast:
13	chr8:126605005..126607033-chr8:126613419..126615572,2	MCF-7	breast:
14	chr8:126591683..126594528-chr8:126604953..126606548,2	K562	blood:
15	chr8:126441094..126445421-chr8:126601055..126606149,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction
ENSG00000266452	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1006998	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10956253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17323382	0.89[CEU][hapmap];0.88[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs17330350	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17330462	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2085125	0.88[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs55752928	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56112519	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56262214	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60426038	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62521562	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6470368	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6981191	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017624	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7017801	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891437	chr8:126470817-126629328	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv6377	chr8:126579620-126639253	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv38	chr8:126593465-126639253	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1015513	chr8:126602536-126618074	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126602200-126606600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:126602200-126608600	Enhancers	Placenta	Placenta
3	chr8:126602400-126606800	Enhancers	NHEK	skin
4	chr8:126602400-126607400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr8:126602600-126606800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:126602800-126607400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr8:126603800-126607000	Enhancers	Esophagus	oesophagus
8	chr8:126603800-126607200	Enhancers	Pancreas	Pancrea
9	chr8:126604000-126605800	Enhancers	HSMMtube	muscle
10	chr8:126604000-126606200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:126604000-126608800	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr8:126604600-126606400	Weak transcription	Left Ventricle	heart
13	chr8:126604600-126607000	Enhancers	Placenta Amnion	Placenta Amnion
14	chr8:126604800-126606600	Weak transcription	Right Ventricle	heart
15	chr8:126605000-126605800	Enhancers	Adipose Nuclei	Adipose
16	chr8:126605000-126606200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:126605000-126606600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:126605200-126605800	Weak transcription	Lung	lung
19	chr8:126605200-126606200	Weak transcription	HMEC	breast
20	chr8:126605200-126606400	Weak transcription	Spleen	Spleen
21	chr8:126605400-126605800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:126605400-126605800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:126605400-126606800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:126605400-126608400	Enhancers	Fetal Intestine Large	intestine
25	chr8:126605400-126608400	Enhancers	Fetal Intestine Small	intestine
26	chr8:126605600-126605800	Enhancers	Colonic Mucosa	Colon
27	chr8:126605600-126606200	Enhancers	A549	lung
28	chr8:126605600-126606800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:126605600-126607800	Enhancers	Hela-S3	cervix
30	chr8:126605600-126608800	Enhancers	Sigmoid Colon	Sigmoid Colon

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