Variant report

Variant	rs73126893
Chromosome Location	chr1:222989025-222989026
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	chr1:222986729..222989819-chr1:223001002..223005734,5	MCF-7	breast:
2	chr1:222988355..222990367-chr1:223003630..223006609,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228106	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17163519	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2378614	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28834670	1.00[EUR][1000 genomes]
rs73126884	1.00[EUR][1000 genomes]
rs73126902	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73128611	1.00[EUR][1000 genomes]
rs73128618	1.00[EUR][1000 genomes]
rs73128629	1.00[EUR][1000 genomes]
rs73128632	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73128633	1.00[EUR][1000 genomes]
rs73128635	1.00[EUR][1000 genomes]
rs73128639	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73128643	1.00[EUR][1000 genomes]
rs73128645	1.00[EUR][1000 genomes]
rs73128668	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73128682	1.00[EUR][1000 genomes]
rs73128692	1.00[EUR][1000 genomes]
rs73130611	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv873206	chr1:222985197-223124916	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222987400-222989400	Active TSS	Brain Angular Gyrus	brain
2	chr1:222987400-222989400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr1:222987600-222989200	Active TSS	Brain Substantia Nigra	brain
4	chr1:222987600-222989400	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr1:222987600-222989400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:222987800-222989200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:222987800-222989200	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr1:222987800-222989200	Active TSS	Fetal Intestine Large	intestine
9	chr1:222987800-222989200	Active TSS	Fetal Muscle Trunk	muscle
10	chr1:222987800-222989400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr1:222987800-222989400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:222987800-222989400	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr1:222987800-222989400	Active TSS	Fetal Kidney	kidney
14	chr1:222987800-222989400	Active TSS	Right Atrium	heart
15	chr1:222987800-222989400	Active TSS	Right Ventricle	heart
16	chr1:222987800-222989600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:222987800-222989600	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr1:222987800-222990000	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr1:222988000-222989200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:222988000-222989200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:222988000-222989200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr1:222988000-222989200	Active TSS	Aorta	Aorta
23	chr1:222988000-222989200	Active TSS	Brain Hippocampus Middle	brain
24	chr1:222988000-222989200	Active TSS	Fetal Brain Male	brain
25	chr1:222988000-222989200	Active TSS	Fetal Brain Female	brain
26	chr1:222988000-222989200	Active TSS	Left Ventricle	heart
27	chr1:222988000-222989200	Active TSS	Lung	lung
28	chr1:222988000-222989200	Active TSS	Ovary	ovary
29	chr1:222988000-222989200	Active TSS	Placenta Amnion	Placenta Amnion
30	chr1:222988000-222989200	Active TSS	Rectal Smooth Muscle	rectum
31	chr1:222988000-222989400	Active TSS	H1 Cell Line	embryonic stem cell
32	chr1:222988000-222989400	Active TSS	H9 Cell Line	embryonic stem cell
33	chr1:222988000-222989400	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr1:222988000-222989400	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr1:222988000-222989400	Active TSS	Brain Anterior Caudate	brain
36	chr1:222988000-222989400	Active TSS	Fetal Intestine Small	intestine
37	chr1:222988000-222989400	Active TSS	Fetal Stomach	stomach
38	chr1:222988000-222989400	Active TSS	Psoas Muscle	Psoas
39	chr1:222988000-222989600	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr1:222988000-222989600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:222988000-222989600	Active TSS	Colon Smooth Muscle	Colon
42	chr1:222988000-222989600	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr1:222988000-222989800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:222988200-222989200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:222988200-222989200	Active TSS	Fetal Heart	heart
46	chr1:222988200-222989200	Active TSS	Placenta	Placenta
47	chr1:222988200-222989200	Active TSS	GM12878-XiMat	blood
48	chr1:222988200-222989400	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr1:222988200-222989400	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr1:222988200-222989400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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