Variant report

Variant	rs73026253
Chromosome Location	chr1:169884081-169884082
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:169863487..169865405-chr1:169882715..169884373,2	K562	blood:
2	chr1:169884029..169885791-chr1:169886642..169888521,2	MCF-7	breast:
3	chr1:169883530..169886106-chr1:169901752..169904376,3	K562	blood:
4	chr1:169861017..169866202-chr1:169878725..169885490,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000000457	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10489175	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10800488	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11577641	0.90[EUR][1000 genomes]
rs11578817	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11579102	0.88[EUR][1000 genomes]
rs11579709	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11581959	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11582552	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11584208	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11585093	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11589659	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11589671	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11590604	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1572551	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16828209	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16862683	0.81[EUR][1000 genomes]
rs16862705	0.82[EUR][1000 genomes]
rs16862870	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16862874	0.82[EUR][1000 genomes]
rs2420510	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2420511	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34657513	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35196850	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3753312	0.93[EUR][1000 genomes]
rs3766138	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3766139	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3766145	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3766146	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3766150	0.85[EUR][1000 genomes]
rs3817859	0.82[EUR][1000 genomes]
rs41496844	0.81[EUR][1000 genomes]
rs4656201	0.88[EUR][1000 genomes]
rs4656720	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4656722	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4656723	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4656726	0.85[EUR][1000 genomes]
rs4656727	0.84[EUR][1000 genomes]
rs55806711	0.88[EUR][1000 genomes]
rs57805301	0.82[EUR][1000 genomes]
rs58111285	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60191157	0.82[EUR][1000 genomes]
rs60315765	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61806076	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61806098	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61807812	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61807813	0.81[EUR][1000 genomes]
rs61807814	0.81[AMR][1000 genomes]
rs61807817	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61807818	0.82[EUR][1000 genomes]
rs61807835	0.85[EUR][1000 genomes]
rs61807840	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61825319	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6685211	0.82[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	esv3451367	chr1:169630075-169976964	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	esv1814601	chr1:169782006-169885186	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv1821503	chr1:169782006-169885186	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	esv1847722	chr1:169782006-169885186	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv2757760	chr1:169782006-169885186	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	esv2758976	chr1:169782006-169885186	Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv428268	chr1:169782006-169885186	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv1845220	chr1:169782006-169933886	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169872800-169887800	Weak transcription	Primary T cells from cord blood	blood
2	chr1:169875800-169889800	Weak transcription	Fetal Brain Female	brain
3	chr1:169876200-169903600	Weak transcription	Aorta	Aorta
4	chr1:169877600-169889800	Weak transcription	Lung	lung
5	chr1:169878400-169892200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:169878400-169895200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:169878400-169946200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:169878600-169895000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:169880200-169892800	Weak transcription	Fetal Heart	heart
10	chr1:169881000-169884200	Weak transcription	Pancreas	Pancrea
11	chr1:169881000-169888000	Weak transcription	Fetal Brain Male	brain
12	chr1:169881400-169901000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:169882200-169892000	Weak transcription	Brain Germinal Matrix	brain
14	chr1:169882800-169886800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:169883000-169884600	Enhancers	HUVEC	blood vessel
16	chr1:169883000-169884600	Enhancers	NHEK	skin
17	chr1:169883000-169886800	Weak transcription	Fetal Stomach	stomach
18	chr1:169883000-169890600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:169883200-169884400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:169883200-169885200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:169883400-169884400	Enhancers	Hela-S3	cervix
22	chr1:169883600-169884200	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr1:169883600-169884400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:169883600-169884400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr1:169883600-169884400	Enhancers	NHLF	lung
26	chr1:169883800-169884400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:169883800-169884400	Enhancers	HSMMtube	muscle
28	chr1:169883800-169884600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:169883800-169884800	Flanking Active TSS	GM12878-XiMat	blood
30	chr1:169884000-169884200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr1:169884000-169884200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:169884000-169884200	Enhancers	Brain Anterior Caudate	brain
33	chr1:169884000-169884400	Enhancers	A549	lung
34	chr1:169884000-169884400	Enhancers	HSMM	muscle
35	chr1:169884000-169884400	Flanking Active TSS	NHDF-Ad	bronchial
36	chr1:169884000-169884400	Flanking Active TSS	Osteobl	bone
37	chr1:169884000-169884600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:169884000-169884600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:169884000-169884600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:169884000-169884600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:169884000-169884600	Enhancers	Small Intestine	intestine
42	chr1:169884000-169884600	Enhancers	HMEC	breast
43	chr1:169884000-169884600	Flanking Active TSS	NH-A	brain

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