Variant report

Variant	rs1059268
Chromosome Location	chr1:92975244-92975245
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1034218	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1059267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10747446	0.85[EUR][1000 genomes]
rs10782912	0.92[EUR][1000 genomes]
rs10782936	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10782937	0.86[EUR][1000 genomes]
rs10874710	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10874711	0.94[EUR][1000 genomes]
rs10874724	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10874725	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10874726	0.88[EUR][1000 genomes]
rs10874727	0.87[EUR][1000 genomes]
rs11164601	0.93[EUR][1000 genomes]
rs11164607	0.93[EUR][1000 genomes]
rs11164608	0.93[EUR][1000 genomes]
rs11164785	0.87[EUR][1000 genomes]
rs11164789	0.82[EUR][1000 genomes]
rs12025792	0.87[EUR][1000 genomes]
rs1325434	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1359490	0.92[EUR][1000 genomes]
rs1886684	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35029291	0.81[EUR][1000 genomes]
rs3903212	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3936944	0.87[EUR][1000 genomes]
rs3936945	0.85[EUR][1000 genomes]
rs4000736	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4294422	0.84[EUR][1000 genomes]
rs4484938	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4565725	0.92[EUR][1000 genomes]
rs4970700	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4970702	0.93[EUR][1000 genomes]
rs4970703	0.92[EUR][1000 genomes]
rs4970707	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4970714	0.91[EUR][1000 genomes]
rs6603976	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6603986	0.90[EUR][1000 genomes]
rs6603989	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6603992	0.88[EUR][1000 genomes]
rs6603997	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6660962	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6682801	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6695638	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6697491	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6703440	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs722356	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7417452	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7513775	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7514156	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7514334	0.84[EUR][1000 genomes]
rs7520630	0.92[EUR][1000 genomes]
rs7521752	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7535490	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7540564	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7541942	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs912796	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs942753	0.92[EUR][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	nsv523354	chr1:92931263-93064823	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1004381	chr1:92968173-93064823	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92952800-92991400	Weak transcription	Pancreas	Pancrea
2	chr1:92967800-92978400	Weak transcription	Fetal Intestine Small	intestine
3	chr1:92967800-92986000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:92968200-92977400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:92968200-93042800	Weak transcription	HSMM	muscle
6	chr1:92968400-92997600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:92969400-92979800	Weak transcription	HSMMtube	muscle
8	chr1:92969600-92984200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:92969800-92992000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:92969800-92996800	Weak transcription	NH-A	brain
11	chr1:92970000-92992200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:92970600-92981800	Weak transcription	Primary B cells from cord blood	blood
13	chr1:92970800-92977200	Weak transcription	GM12878-XiMat	blood
14	chr1:92970800-92978800	Weak transcription	Placenta	Placenta
15	chr1:92971400-92978600	Weak transcription	Liver	Liver
16	chr1:92971400-92998600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:92972600-93013400	Weak transcription	Ovary	ovary
18	chr1:92973000-92983800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:92973400-92987400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:92973800-92997600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr1:92973800-93002200	Weak transcription	Fetal Intestine Large	intestine
22	chr1:92975200-92975600	Enhancers	Dnd41	blood
23	chr1:92975200-92979600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr1:92975200-92980600	Strong transcription	Monocytes-CD14+_RO01746	blood

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