Variant report

Variant	rs7828701
Chromosome Location	chr8:126485773-126485774
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126467665..126470329-chr8:126485659..126488086,3	MCF-7	breast:
2	chr8:126450829..126453336-chr8:126485586..126487093,2	MCF-7	breast:
3	chr8:126439120..126443279-chr8:126483208..126489107,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10956249	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12544593	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12545963	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12674939	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12677676	0.89[CHB][hapmap];0.83[JPT][hapmap];0.91[ASN][1000 genomes]
rs12678799	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12679184	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12679189	1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs12679547	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13258507	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13265432	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13271368	0.80[ASN][1000 genomes]
rs17406109	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2003370	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2003371	0.81[EUR][1000 genomes]
rs34087092	0.88[ASN][1000 genomes]
rs34321324	0.81[ASN][1000 genomes]
rs34417638	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34604874	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35309034	0.95[ASN][1000 genomes]
rs4567057	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4567059	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4592055	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4870941	0.85[ASN][1000 genomes]
rs55921265	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs68089270	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6983834	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7015677	1.00[CHB][hapmap];0.82[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71516786	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7828194	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8180991	0.94[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	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	esv995198	chr8:126485459-126486639	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126479400-126487400	Weak transcription	Liver	Liver
2	chr8:126479400-126489200	Weak transcription	Pancreas	Pancrea
3	chr8:126482800-126487000	Weak transcription	Placenta	Placenta
4	chr8:126483000-126486000	Weak transcription	Lung	lung
5	chr8:126483000-126487400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:126483000-126489400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:126483000-126498200	Weak transcription	Right Atrium	heart
8	chr8:126483200-126486400	Weak transcription	Fetal Muscle Leg	muscle
9	chr8:126483200-126486800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr8:126483200-126487000	Weak transcription	Adipose Nuclei	Adipose
11	chr8:126483200-126487200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:126483200-126487600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr8:126483200-126489000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:126483200-126489400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr8:126483400-126485800	Weak transcription	Fetal Kidney	kidney
16	chr8:126483400-126486000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:126483400-126487000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr8:126483400-126496600	Weak transcription	Hela-S3	cervix
19	chr8:126484200-126485800	Weak transcription	HMEC	breast
20	chr8:126484200-126485800	Weak transcription	NHEK	skin
21	chr8:126484400-126486000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:126484600-126485800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:126485400-126486200	Enhancers	A549	lung
24	chr8:126485600-126485800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:126485600-126486000	Enhancers	NH-A	brain

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