Variant report

Variant	rs72747321
Chromosome Location	chr1:220226630-220226631
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12568334	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12757995	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17563262	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17563518	0.83[ASN][1000 genomes]
rs17563587	0.83[ASN][1000 genomes]
rs2053250	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2270711	0.83[ASN][1000 genomes]
rs3767657	0.82[ASN][1000 genomes]
rs4846612	0.83[ASN][1000 genomes]
rs57728897	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60531981	0.83[ASN][1000 genomes]
rs61484867	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72747320	0.85[ASN][1000 genomes]
rs72747325	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72747385	0.86[ASN][1000 genomes]
rs72747386	0.83[ASN][1000 genomes]
rs72747387	0.83[ASN][1000 genomes]
rs72747389	0.81[ASN][1000 genomes]
rs72747390	0.81[ASN][1000 genomes]
rs72747391	0.81[ASN][1000 genomes]
rs7549450	0.81[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	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	esv3388149	chr1:220205606-220233828	Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220220000-220230600	Weak transcription	Lung	lung
2	chr1:220220000-220231200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:220220000-220236000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:220220200-220231800	Weak transcription	Gastric	stomach
5	chr1:220220200-220232000	Weak transcription	Small Intestine	intestine
6	chr1:220220400-220230600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:220220400-220231400	Weak transcription	GM12878-XiMat	blood
8	chr1:220220400-220231400	Weak transcription	HUVEC	blood vessel
9	chr1:220220400-220231600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:220220400-220232000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:220220400-220233800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:220220400-220236000	Weak transcription	Aorta	Aorta
13	chr1:220220400-220236000	Weak transcription	HSMMtube	muscle
14	chr1:220220400-220238400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:220220400-220240800	Weak transcription	NHDF-Ad	bronchial
16	chr1:220220400-220243600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:220220400-220257600	Weak transcription	Stomach Mucosa	stomach
18	chr1:220220600-220227600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:220220600-220229400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr1:220220600-220229600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:220220600-220229600	Weak transcription	Liver	Liver
22	chr1:220220600-220229600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr1:220220600-220230200	Weak transcription	Fetal Intestine Small	intestine
24	chr1:220220600-220230400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:220220600-220230800	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr1:220220600-220230800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr1:220220600-220231000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:220220600-220231200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:220220600-220231200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:220220600-220231200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr1:220220600-220231200	Weak transcription	Fetal Brain Female	brain
32	chr1:220220600-220231200	Weak transcription	Thymus	Thymus
33	chr1:220220600-220231400	Weak transcription	Primary T cells from cord blood	blood
34	chr1:220220600-220231400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr1:220220600-220231400	Weak transcription	Adipose Nuclei	Adipose
36	chr1:220220600-220231400	Weak transcription	K562	blood
37	chr1:220220600-220231800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:220220600-220231800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr1:220220600-220231800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:220220600-220231800	Weak transcription	Ovary	ovary
41	chr1:220220600-220231800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr1:220220600-220232800	Weak transcription	NH-A	brain
43	chr1:220220600-220235000	Weak transcription	Fetal Muscle Leg	muscle
44	chr1:220220600-220236000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:220220600-220236000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr1:220220600-220236000	Weak transcription	Brain Anterior Caudate	brain
47	chr1:220220600-220237400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr1:220220600-220237600	Weak transcription	Right Ventricle	heart
49	chr1:220220600-220245800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr1:220220600-220262400	Weak transcription	Pancreas	Pancrea

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