Variant report

Variant	rs6695451
Chromosome Location	chr1:192674152-192674153
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10754022	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10754023	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10801140	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10921232	0.83[ASN][1000 genomes]
rs10921233	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10921234	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10921236	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10921237	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10921238	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11576197	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12037932	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12042114	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12118386	0.81[EUR][1000 genomes]
rs12403636	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1933705	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1933706	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1933711	0.81[EUR][1000 genomes]
rs1933712	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1933713	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1933714	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1933715	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2104248	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2146607	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2181445	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2208960	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2369892	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6699054	0.87[EUR][1000 genomes]
rs6702192	0.92[EUR][1000 genomes]
rs7540755	0.83[EUR][1000 genomes]
rs7549322	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs961480	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192669600-192674200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:192670200-192676200	Enhancers	HepG2	liver
3	chr1:192671400-192677000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:192671400-192677200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:192671600-192676600	Weak transcription	Stomach Mucosa	stomach
6	chr1:192671600-192676800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:192671800-192677200	Weak transcription	NHEK	skin
8	chr1:192671800-192678400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:192672000-192675600	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr1:192672200-192675800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr1:192672400-192675600	Weak transcription	Colon Smooth Muscle	Colon
12	chr1:192672400-192678000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:192672800-192677800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:192673200-192674200	Weak transcription	A549	lung
15	chr1:192673200-192674400	Weak transcription	HMEC	breast
16	chr1:192673200-192678600	Weak transcription	NH-A	brain
17	chr1:192673600-192675200	Weak transcription	Primary neutrophils fromperipheralblood	blood

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