Variant report

Variant	rs12041893
Chromosome Location	chr1:193306558-193306559
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:193301837..193303548-chr1:193305413..193307169,2	K562	blood:
2	chr1:193301837..193303845-chr1:193305549..193307169,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10754054	0.84[EUR][1000 genomes]
rs10754055	0.86[EUR][1000 genomes]
rs10801194	0.86[EUR][1000 genomes]
rs10921336	0.83[EUR][1000 genomes]
rs10921343	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12025186	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12025393	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12032958	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12034095	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12037055	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12040365	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12040832	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12041558	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12047390	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12048579	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12124282	0.87[ASN][1000 genomes]
rs1221502	0.89[EUR][1000 genomes]
rs1339961	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1361405	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1616234	0.86[EUR][1000 genomes]
rs1632444	0.86[EUR][1000 genomes]
rs16835282	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16835304	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16835319	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16835320	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16835338	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1749429	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1749430	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1749431	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1749432	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1769999	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1770000	0.87[ASN][1000 genomes]
rs1972344	0.83[EUR][1000 genomes]
rs1972345	0.89[EUR][1000 genomes]
rs2050799	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2254646	0.86[EUR][1000 genomes]
rs2275506	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2477549	0.87[EUR][1000 genomes]
rs2486842	0.82[EUR][1000 genomes]
rs2486843	0.87[ASN][1000 genomes]
rs4428863	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4657854	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4657855	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4657856	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4657858	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs475163	0.81[EUR][1000 genomes]
rs497362	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs503265	0.86[EUR][1000 genomes]
rs515964	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs523402	0.83[EUR][1000 genomes]
rs524701	0.83[EUR][1000 genomes]
rs531327	0.99[ASN][1000 genomes]
rs543788	0.86[EUR][1000 genomes]
rs560900	0.89[EUR][1000 genomes]
rs569656	0.87[EUR][1000 genomes]
rs571029	0.84[EUR][1000 genomes]
rs578639	0.89[EUR][1000 genomes]
rs59264807	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6428159	0.83[EUR][1000 genomes]
rs6428163	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6428166	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6662104	0.87[ASN][1000 genomes]
rs6671476	0.86[EUR][1000 genomes]
rs6693734	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6697195	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6702762	0.87[ASN][1000 genomes]
rs693519	0.81[EUR][1000 genomes]
rs7528595	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7534504	0.83[ASN][1000 genomes]
rs7543029	0.86[ASN][1000 genomes]
rs7550521	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs817136	0.83[EUR][1000 genomes]
rs817138	0.81[EUR][1000 genomes]
rs817140	0.81[EUR][1000 genomes]
rs817142	0.83[EUR][1000 genomes]
rs817143	0.83[EUR][1000 genomes]
rs843844	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv997891	chr1:193271839-193566441	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193303800-193308000	Enhancers	HSMM	muscle
2	chr1:193304800-193307400	Enhancers	HSMMtube	muscle
3	chr1:193305200-193306800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:193305400-193307000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:193305400-193307200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:193305600-193306800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:193305600-193307200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:193305600-193307200	Weak transcription	Fetal Lung	lung
9	chr1:193305800-193306600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:193305800-193306800	Weak transcription	Osteobl	bone
11	chr1:193305800-193317200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:193306000-193307000	Weak transcription	NHLF	lung
13	chr1:193306200-193306600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:193306200-193306600	Weak transcription	NHDF-Ad	bronchial

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