Variant report

Variant	rs72668331
Chromosome Location	chr1:57169372-57169373
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:55923553..55925423-chr1:57168281..57171195,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11807758	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11809287	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11809354	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12568785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1342382	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17848595	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2179761	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57114150	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59772508	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6672361	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6687567	0.95[AFR][1000 genomes]
rs6699564	1.00[AFR][1000 genomes]
rs72668326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7553414	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv523032	chr1:57116909-57249558	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	esv1831276	chr1:57139370-57175158	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
4	nsv520726	chr1:57143986-57205666	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57122800-57169600	Weak transcription	Ovary	ovary
2	chr1:57125600-57169800	Weak transcription	Aorta	Aorta
3	chr1:57144200-57171800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:57144400-57169400	Weak transcription	Fetal Kidney	kidney
5	chr1:57144400-57173600	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:57154200-57174800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:57154400-57174600	Weak transcription	Brain Anterior Caudate	brain
8	chr1:57154400-57174800	Weak transcription	Gastric	stomach
9	chr1:57154600-57169800	Weak transcription	Fetal Intestine Large	intestine
10	chr1:57159600-57172800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:57159800-57174800	Weak transcription	Fetal Stomach	stomach
12	chr1:57160000-57174800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr1:57160200-57174600	Weak transcription	Fetal Brain Male	brain
14	chr1:57160400-57174800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:57162600-57169400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr1:57162600-57169400	Weak transcription	A549	lung
17	chr1:57162600-57174600	Weak transcription	Brain Angular Gyrus	brain
18	chr1:57162800-57176200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:57166200-57169400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:57166200-57169600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:57166200-57174800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr1:57166200-57178800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:57166400-57169400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:57166400-57169400	Weak transcription	Brain Hippocampus Middle	brain
25	chr1:57166400-57169600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr1:57166400-57171800	Weak transcription	Fetal Muscle Leg	muscle
27	chr1:57166600-57169400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:57166600-57169400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:57166600-57169600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr1:57166600-57169600	Weak transcription	Fetal Brain Female	brain
31	chr1:57166600-57169600	Weak transcription	Left Ventricle	heart
32	chr1:57166600-57169800	Weak transcription	HepG2	liver
33	chr1:57166600-57171800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr1:57166600-57175600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:57166600-57175600	Weak transcription	Right Ventricle	heart
36	chr1:57166800-57169400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr1:57166800-57169400	Weak transcription	Fetal Intestine Small	intestine
38	chr1:57166800-57170000	Weak transcription	Fetal Heart	heart
39	chr1:57167400-57169600	Weak transcription	Pancreas	Pancrea
40	chr1:57167800-57169400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr1:57169000-57169800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:57169000-57170000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:57169000-57170200	Strong transcription	Hela-S3	cervix
44	chr1:57169000-57174400	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr1:57169200-57170200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr1:57169200-57170200	ZNF genes & repeats	Stomach Smooth Muscle	stomach
47	chr1:57169200-57170400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:57169200-57170600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast

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