Variant report

Variant	rs4744972
Chromosome Location	chr9:72672026-72672027
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11141566	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11141672	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11141697	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12349576	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12352964	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1927104	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1927107	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28462281	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2997657	0.88[ASN][1000 genomes]
rs2997665	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3015234	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3015237	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3015239	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4237238	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4237239	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4237240	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4367620	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744586	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744970	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744971	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4744979	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4744981	0.84[ASN][1000 genomes]
rs6559970	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7035878	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7045153	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs755778	0.87[ASN][1000 genomes]
rs7853094	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[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	nsv893438	chr9:72363992-72720438	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1049457	chr9:72539144-72765913	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv831613	chr9:72586058-72740061	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72665200-72673600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr9:72665400-72673200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr9:72667600-72688400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr9:72668800-72675800	Enhancers	Rectal Smooth Muscle	rectum
5	chr9:72668800-72676600	Weak transcription	Gastric	stomach
6	chr9:72668800-72681400	Weak transcription	Esophagus	oesophagus
7	chr9:72669200-72675000	Weak transcription	NHDF-Ad	bronchial
8	chr9:72669200-72682600	Weak transcription	Osteobl	bone
9	chr9:72670000-72675000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr9:72670000-72688400	Weak transcription	NH-A	brain
11	chr9:72670200-72675000	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr9:72670200-72675200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr9:72670400-72674800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr9:72670600-72673400	Weak transcription	Fetal Muscle Leg	muscle
15	chr9:72670600-72673400	Weak transcription	Right Atrium	heart
16	chr9:72670600-72673400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr9:72670600-72674600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr9:72670600-72674600	Weak transcription	Psoas Muscle	Psoas
19	chr9:72670600-72676000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr9:72671000-72673400	Weak transcription	Adipose Nuclei	Adipose
21	chr9:72671000-72673400	Weak transcription	Fetal Lung	lung
22	chr9:72671000-72675600	Enhancers	Stomach Smooth Muscle	stomach
23	chr9:72671200-72672400	Enhancers	Ovary	ovary
24	chr9:72671200-72676000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr9:72671400-72672400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr9:72671400-72672600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr9:72671600-72672200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
28	chr9:72671600-72672400	Enhancers	Spleen	Spleen
29	chr9:72671600-72673400	Weak transcription	Fetal Stomach	stomach
30	chr9:72671600-72675600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr9:72671800-72672200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr9:72671800-72672200	Weak transcription	HMEC	breast
33	chr9:72671800-72672400	Strong transcription	HSMMtube	muscle
34	chr9:72672000-72672200	Enhancers	Small Intestine	intestine
35	chr9:72672000-72672400	Enhancers	Colon Smooth Muscle	Colon
36	chr9:72672000-72672400	Enhancers	NHEK	skin
37	chr9:72672000-72674600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr9:72672000-72675600	Weak transcription	HSMM	muscle
39	chr9:72672000-72676000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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