Variant report

Variant	rs72981766
Chromosome Location	chr1:98403989-98403990
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:98385061..98387939-chr1:98401508..98404733,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188641	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs12074249	1.00[EUR][1000 genomes]
rs1889227	1.00[EUR][1000 genomes]
rs57653088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58243347	1.00[AMR][1000 genomes]
rs58638365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58639633	1.00[AMR][1000 genomes]
rs58893462	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59037638	1.00[AMR][1000 genomes]
rs59356371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59538909	1.00[AMR][1000 genomes]
rs59954273	1.00[AMR][1000 genomes]
rs60078043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60887083	1.00[AMR][1000 genomes]
rs60911244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61174144	1.00[AMR][1000 genomes]
rs61211497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61492808	1.00[AMR][1000 genomes]
rs6662081	1.00[AMR][1000 genomes]
rs72963706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72963734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72963743	1.00[AMR][1000 genomes]
rs72963747	1.00[AMR][1000 genomes]
rs72963772	1.00[AMR][1000 genomes]
rs72967637	1.00[AMR][1000 genomes]
rs72967645	1.00[AMR][1000 genomes]
rs72967661	1.00[AMR][1000 genomes]
rs72969626	1.00[AMR][1000 genomes]
rs72969641	1.00[AMR][1000 genomes]
rs72969655	1.00[AMR][1000 genomes]
rs72969666	1.00[AMR][1000 genomes]
rs72969667	1.00[AMR][1000 genomes]
rs72969669	1.00[AMR][1000 genomes]
rs72969673	1.00[AMR][1000 genomes]
rs72969678	1.00[AMR][1000 genomes]
rs72969696	1.00[AMR][1000 genomes]
rs72969699	1.00[AMR][1000 genomes]
rs72979743	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72979754	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72979756	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72979762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72979773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72979780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72979786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72979788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72981735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72981737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72981745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981761	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981763	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981771	1.00[EUR][1000 genomes]
rs72981774	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74106051	1.00[AMR][1000 genomes]
rs74106378	1.00[AMR][1000 genomes]
rs7517110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7553077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012958	chr1:98081528-98864746	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv871625	chr1:98165091-98564736	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830725	chr1:98257894-98443497	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv934244	chr1:98260729-98415915	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv871077	chr1:98274132-98541677	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:98400400-98407000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:98401400-98404000	Enhancers	Brain Cingulate Gyrus	brain
3	chr1:98401600-98406400	Weak transcription	Dnd41	blood
4	chr1:98402000-98404000	Enhancers	Brain Substantia Nigra	brain
5	chr1:98402000-98404800	Enhancers	HMEC	breast
6	chr1:98402200-98404000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:98402200-98404000	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr1:98402400-98404400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:98402400-98404600	Enhancers	NHEK	skin
10	chr1:98402400-98404800	Enhancers	Hela-S3	cervix
11	chr1:98402600-98404200	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr1:98402600-98404200	Enhancers	NHLF	lung
13	chr1:98402600-98404600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:98402600-98404600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:98402600-98404600	Enhancers	HUVEC	blood vessel
16	chr1:98402800-98404200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:98402800-98404200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr1:98402800-98404200	Enhancers	Placenta Amnion	Placenta Amnion
19	chr1:98402800-98407800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:98403000-98404200	Enhancers	HSMMtube	muscle
21	chr1:98403000-98404600	Enhancers	Brain Angular Gyrus	brain
22	chr1:98403200-98404000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:98403200-98404000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:98403200-98404200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr1:98403200-98404200	Enhancers	Small Intestine	intestine
26	chr1:98403400-98404000	Flanking Active TSS	A549	lung
27	chr1:98403600-98404000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr1:98403600-98404000	Enhancers	Primary hematopoietic stem cells	blood
29	chr1:98403800-98404000	Flanking Active TSS	NH-A	brain
30	chr1:98403800-98404200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:98403800-98404200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:98403800-98404200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:98403800-98404200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:98403800-98404200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:98403800-98404200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr1:98403800-98404200	Enhancers	Placenta	Placenta
37	chr1:98403800-98404200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr1:98403800-98404200	Flanking Active TSS	NHDF-Ad	bronchial
39	chr1:98403800-98404200	Flanking Active TSS	Osteobl	bone
40	chr1:98403800-98404400	Genic enhancers	HSMM	muscle
41	chr1:98403800-98407800	Weak transcription	Brain Hippocampus Middle	brain

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