Variant report

Variant	rs12541176
Chromosome Location	chr8:95424066-95424067
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10504937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12541117	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12542622	1.00[ASN][1000 genomes]
rs12542942	1.00[ASN][1000 genomes]
rs12548615	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16916769	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16916798	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2028429	1.00[ASN][1000 genomes]
rs2046663	1.00[ASN][1000 genomes]
rs2381828	1.00[ASN][1000 genomes]
rs28398457	1.00[ASN][1000 genomes]
rs28595703	1.00[ASN][1000 genomes]
rs28703913	1.00[ASN][1000 genomes]
rs2890804	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3136403	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3136405	1.00[ASN][1000 genomes]
rs3136408	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3136409	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34019009	0.91[ASN][1000 genomes]
rs4734277	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735283	0.92[EUR][1000 genomes]
rs4735290	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55989726	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56272303	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57108375	0.85[ASN][1000 genomes]
rs58866206	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59111232	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs59233901	1.00[ASN][1000 genomes]
rs59273159	1.00[EUR][1000 genomes]
rs59468162	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60425434	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60523486	1.00[ASN][1000 genomes]
rs60654408	1.00[ASN][1000 genomes]
rs60894328	1.00[ASN][1000 genomes]
rs61410835	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6991270	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6991551	1.00[ASN][1000 genomes]
rs6991746	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7001164	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73270109	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73270139	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73270196	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271911	1.00[ASN][1000 genomes]
rs73271915	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271953	1.00[ASN][1000 genomes]
rs73271959	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73271964	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73271995	1.00[ASN][1000 genomes]
rs73695185	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817230	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7824591	1.00[ASN][1000 genomes]
rs7829493	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7836446	1.00[ASN][1000 genomes]
rs7842883	1.00[EUR][1000 genomes]
rs7845278	1.00[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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv1031480	chr8:95375696-95447407	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95386000-95429200	Weak transcription	NHDF-Ad	bronchial
2	chr8:95392200-95430200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr8:95392600-95424800	Weak transcription	Hela-S3	cervix
4	chr8:95393200-95447000	Weak transcription	K562	blood
5	chr8:95404200-95429600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:95404600-95424400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:95408600-95429000	Weak transcription	HMEC	breast
8	chr8:95409400-95443000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:95412200-95447200	Weak transcription	Fetal Thymus	thymus
10	chr8:95412400-95430000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:95416200-95429400	Weak transcription	HSMM	muscle
12	chr8:95416800-95445200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr8:95417200-95428800	Weak transcription	Dnd41	blood
14	chr8:95418000-95424200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:95419000-95429400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr8:95419200-95429400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:95420800-95432000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:95422000-95430600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:95423200-95424400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:95423200-95429800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr8:95423200-95430200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr8:95423600-95424400	Enhancers	A549	lung
23	chr8:95423600-95425200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr8:95423600-95429800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr8:95423600-95430000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr8:95423600-95430000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:95423800-95425400	Weak transcription	GM12878-XiMat	blood

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