Variant report

Variant	rs11809378
Chromosome Location	chr1:169322521-169322522
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10158265	0.87[ASN][1000 genomes]
rs10158861	0.90[ASN][1000 genomes]
rs10489187	0.92[EUR][1000 genomes]
rs10489188	0.92[EUR][1000 genomes]
rs10919102	0.87[ASN][1000 genomes]
rs10919146	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10919155	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10919163	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11799936	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs11799948	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11800843	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11808015	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12021770	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12023025	0.92[EUR][1000 genomes]
rs12023117	0.92[EUR][1000 genomes]
rs12023892	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12025233	0.87[ASN][1000 genomes]
rs12026728	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12026996	0.90[ASN][1000 genomes]
rs12028813	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12029853	0.90[ASN][1000 genomes]
rs12030320	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12032201	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12032783	0.86[ASN][1000 genomes]
rs12033078	0.90[ASN][1000 genomes]
rs12033253	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12037211	0.87[ASN][1000 genomes]
rs12038609	0.90[ASN][1000 genomes]
rs12039443	0.87[ASN][1000 genomes]
rs12043489	0.90[ASN][1000 genomes]
rs12043545	0.90[ASN][1000 genomes]
rs12046139	0.90[ASN][1000 genomes]
rs12047231	0.87[ASN][1000 genomes]
rs12049227	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1400838	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1415928	0.90[ASN][1000 genomes]
rs1589113	0.90[ASN][1000 genomes]
rs16862118	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16862172	0.92[EUR][1000 genomes]
rs2235195	0.93[EUR][1000 genomes]
rs2268048	0.90[ASN][1000 genomes]
rs28566091	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34710865	0.82[ASN][1000 genomes]
rs35269183	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3766089	0.90[ASN][1000 genomes]
rs3820058	0.87[ASN][1000 genomes]
rs56859218	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61806986	0.90[ASN][1000 genomes]
rs61807018	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61808865	0.87[ASN][1000 genomes]
rs61808914	0.90[ASN][1000 genomes]
rs61808915	0.90[ASN][1000 genomes]
rs61808977	0.85[EUR][1000 genomes]
rs61808978	0.86[EUR][1000 genomes]
rs6427191	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6656923	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6685556	0.87[ASN][1000 genomes]
rs6690801	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6698149	0.82[ASN][1000 genomes]
rs72702156	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72702179	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72702188	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7521338	0.87[ASN][1000 genomes]
rs7535788	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9659035	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522071	chr1:168978325-169339044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	esv3522072	chr1:168978325-169339044	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv1010010	chr1:169189586-169347545	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv872531	chr1:169191860-169388193	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1012919	chr1:169200982-169324750	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv872532	chr1:169275630-169363203	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv831871	chr1:169320673-169486680	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169270200-169336400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr1:169296600-169324600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:169305600-169336400	Weak transcription	Left Ventricle	heart
4	chr1:169309200-169333600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:169309400-169336400	Weak transcription	Ovary	ovary
6	chr1:169310800-169332800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:169311000-169336400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:169316000-169334200	Weak transcription	Fetal Intestine Small	intestine
9	chr1:169317000-169336400	Weak transcription	Pancreas	Pancrea
10	chr1:169317200-169333800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr1:169317800-169332800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr1:169317800-169333800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:169317800-169335800	Weak transcription	Fetal Lung	lung
14	chr1:169318000-169332200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:169318200-169334000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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