Variant report

Variant	rs72747325
Chromosome Location	chr1:220255322-220255323
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220253135..220256088-chr1:220267328..220268920,2	MCF-7	breast:
2	chr1:220255051..220256996-chr1:220266577..220268347,2	MCF-7	breast:
3	chr1:220250499..220254001-chr1:220255278..220257878,3	K562	blood:

Variant related genes	Relation type
ENSG00000067704	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12568334	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12757995	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17563262	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17563518	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17563587	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2053250	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57728897	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60531981	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61484867	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72747321	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72747385	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72747386	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72747387	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72747389	0.93[ASN][1000 genomes]
rs72747390	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72747391	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7549450	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases
2	nsv832636	chr1:220139697-220294352	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	738 gene(s)	inside rSNPs	diseases
3	esv2753619	chr1:220210273-220302117	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	737 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220220400-220257600	Weak transcription	Stomach Mucosa	stomach
2	chr1:220220600-220262400	Weak transcription	Pancreas	Pancrea
3	chr1:220220600-220262400	Weak transcription	NHLF	lung
4	chr1:220220800-220261600	Weak transcription	Fetal Brain Male	brain
5	chr1:220236400-220262800	Weak transcription	Esophagus	oesophagus
6	chr1:220238000-220262800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:220238000-220267400	Weak transcription	Spleen	Spleen
8	chr1:220238200-220262800	Weak transcription	Gastric	stomach
9	chr1:220239400-220262000	Weak transcription	Brain Germinal Matrix	brain
10	chr1:220239600-220261600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr1:220239600-220262400	Weak transcription	Right Ventricle	heart
12	chr1:220241200-220256800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:220241200-220258200	Weak transcription	Hela-S3	cervix
14	chr1:220241200-220261800	Weak transcription	A549	lung
15	chr1:220241200-220262000	Weak transcription	HMEC	breast
16	chr1:220241200-220262400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:220241200-220262400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:220241400-220262400	Weak transcription	NHEK	skin
19	chr1:220242600-220262800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:220243800-220262400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:220246200-220262000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:220246400-220256000	Weak transcription	Fetal Kidney	kidney
23	chr1:220246400-220261600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr1:220246400-220261800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:220246400-220262000	Weak transcription	Brain Hippocampus Middle	brain
26	chr1:220246400-220262400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:220246400-220262400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr1:220246400-220262400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr1:220246400-220262400	Weak transcription	Brain Anterior Caudate	brain
30	chr1:220246400-220262400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:220246400-220262400	Weak transcription	Brain Substantia Nigra	brain
32	chr1:220246400-220262400	Weak transcription	Fetal Brain Female	brain
33	chr1:220246600-220262400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:220246600-220262400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr1:220246600-220262400	Weak transcription	Colonic Mucosa	Colon
36	chr1:220246800-220262400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr1:220246800-220262400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:220246800-220262400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:220246800-220262400	Weak transcription	Fetal Heart	heart
40	chr1:220246800-220262400	Weak transcription	Thymus	Thymus
41	chr1:220247000-220256800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:220247000-220257600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:220247000-220258600	Weak transcription	Ovary	ovary
44	chr1:220247000-220262400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr1:220247000-220262400	Weak transcription	Aorta	Aorta
46	chr1:220247000-220262400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr1:220247000-220262400	Weak transcription	Fetal Muscle Leg	muscle
48	chr1:220247000-220262800	Weak transcription	Lung	lung
49	chr1:220247200-220262400	Weak transcription	Adipose Nuclei	Adipose
50	chr1:220247400-220257800	Weak transcription	Muscle Satellite Cultured Cells	--

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