Variant report

Variant	rs4541872
Chromosome Location	chr8:99719791-99719792
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:99718932..99722274-chr8:99955380..99958464,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164920	Chromatin interaction
ENSG00000271930	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10447977	0.84[AMR][1000 genomes]
rs10755896	0.86[ASN][1000 genomes]
rs10755897	0.86[ASN][1000 genomes]
rs10955189	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10955190	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11774463	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11778767	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11780292	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11780369	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11780500	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12114834	0.83[AMR][1000 genomes]
rs12542649	0.82[ASN][1000 genomes]
rs12547297	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12549803	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12550783	0.86[ASN][1000 genomes]
rs12677183	0.81[ASN][1000 genomes]
rs12679268	0.86[ASN][1000 genomes]
rs12679734	0.81[AMR][1000 genomes]
rs12680195	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs13269932	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13271844	0.84[ASN][1000 genomes]
rs13275915	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13279438	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1476181	0.84[AMR][1000 genomes]
rs2442012	0.86[AMR][1000 genomes]
rs2442014	0.86[AMR][1000 genomes]
rs2515214	0.85[AMR][1000 genomes]
rs2922075	0.80[AMR][1000 genomes]
rs2922078	0.80[AMR][1000 genomes]
rs2922081	0.80[AMR][1000 genomes]
rs3019293	0.80[AMR][1000 genomes]
rs34114299	0.81[ASN][1000 genomes]
rs34281206	0.84[AMR][1000 genomes]
rs34477118	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs34855977	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35536167	0.84[AMR][1000 genomes]
rs35798019	0.84[ASN][1000 genomes]
rs35804297	0.86[ASN][1000 genomes]
rs4131873	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4255105	0.81[AMR][1000 genomes]
rs4279561	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4304299	0.86[AMR][1000 genomes]
rs4413739	0.85[AMR][1000 genomes]
rs4440607	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4509292	0.86[ASN][1000 genomes]
rs4517094	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4549741	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4562286	0.85[AMR][1000 genomes]
rs4612309	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4734410	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4735569	0.85[ASN][1000 genomes]
rs4735570	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4735571	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4735574	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57034072	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs58321500	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs62532565	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62532577	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62532587	0.89[AMR][1000 genomes]
rs62535404	0.82[ASN][1000 genomes]
rs62535408	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62535410	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs62535412	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6651182	0.81[ASN][1000 genomes]
rs6992925	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7838239	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891218	chr8:99507313-99906221	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv891220	chr8:99681858-99867419	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv1025685	chr8:99706280-99826236	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv539691	chr8:99706280-99826236	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99676200-99738200	Weak transcription	Fetal Kidney	kidney
2	chr8:99683600-99720400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:99683600-99738000	Weak transcription	NHEK	skin
4	chr8:99699800-99721000	Weak transcription	NHDF-Ad	bronchial
5	chr8:99699800-99721200	Weak transcription	Pancreas	Pancrea
6	chr8:99699800-99721400	Weak transcription	Placenta	Placenta
7	chr8:99699800-99722400	Weak transcription	Lung	lung
8	chr8:99699800-99722600	Weak transcription	Left Ventricle	heart
9	chr8:99702000-99722200	Weak transcription	Fetal Muscle Leg	muscle
10	chr8:99702800-99721200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr8:99704400-99722400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr8:99706000-99722400	Weak transcription	Aorta	Aorta
13	chr8:99706000-99725000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:99706400-99722200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:99711000-99722200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr8:99713200-99721800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr8:99713200-99722200	Weak transcription	Liver	Liver
18	chr8:99713200-99722400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:99713200-99722400	Weak transcription	Ovary	ovary
20	chr8:99713200-99737600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:99713400-99719800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr8:99713400-99719800	Weak transcription	Fetal Stomach	stomach
23	chr8:99713400-99722400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:99713400-99722400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr8:99713400-99722400	Weak transcription	Fetal Intestine Large	intestine
26	chr8:99713400-99722600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:99713400-99722800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:99713800-99721600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:99713800-99722200	Weak transcription	Fetal Intestine Small	intestine
30	chr8:99713800-99722400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:99713800-99722800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:99715000-99720000	Weak transcription	GM12878-XiMat	blood
33	chr8:99715200-99722600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr8:99719600-99720200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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