Variant report

Variant	rs73043622
Chromosome Location	chr3:23496500-23496501
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10510538	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1054048	0.82[ASN][1000 genomes]
rs12638508	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17405137	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55737333	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57338964	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57859482	0.84[EUR][1000 genomes]
rs58157906	0.86[EUR][1000 genomes]
rs59180179	1.00[EUR][1000 genomes]
rs59461083	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59738871	0.86[ASN][1000 genomes]
rs61264520	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73041534	0.89[EUR][1000 genomes]
rs73041537	0.89[EUR][1000 genomes]
rs73041557	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73041601	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73043635	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73043637	0.85[EUR][1000 genomes]
rs73043648	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73043654	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73043662	0.80[EUR][1000 genomes]
rs73043677	0.93[EUR][1000 genomes]
rs73043684	0.93[EUR][1000 genomes]
rs73043689	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73043697	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73045614	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73045642	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73049415	0.85[EUR][1000 genomes]
rs73049445	0.85[EUR][1000 genomes]
rs73049455	0.82[EUR][1000 genomes]
rs73049457	0.82[EUR][1000 genomes]
rs7632099	0.91[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	nsv1002823	chr3:23277838-23623083	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1007373	chr3:23367952-23710331	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv876625	chr3:23390301-23509597	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23485200-23498600	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr3:23491600-23496800	Weak transcription	Psoas Muscle	Psoas
3	chr3:23491600-23498000	Weak transcription	Primary B cells from cord blood	blood
4	chr3:23491800-23501200	Weak transcription	Brain Substantia Nigra	brain
5	chr3:23494400-23501000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr3:23494400-23502000	Weak transcription	HSMMtube	muscle
7	chr3:23494400-23504200	Weak transcription	Thymus	Thymus
8	chr3:23495200-23497000	Enhancers	Rectal Smooth Muscle	rectum
9	chr3:23495800-23496800	Enhancers	Colon Smooth Muscle	Colon
10	chr3:23495800-23497000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr3:23496000-23496800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr3:23496000-23496800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr3:23496000-23496800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr3:23496000-23497400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr3:23496000-23497600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr3:23496000-23497600	Enhancers	A549	lung
17	chr3:23496000-23498000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:23496000-23498200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr3:23496200-23496600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr3:23496200-23496800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr3:23496200-23497000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr3:23496200-23497000	Enhancers	NH-A	brain
23	chr3:23496200-23497400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr3:23496200-23498000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:23496200-23498000	Enhancers	Hela-S3	cervix
26	chr3:23496400-23496800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr3:23496400-23497200	Enhancers	Adipose Nuclei	Adipose
28	chr3:23496400-23497200	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr3:23496400-23497400	Enhancers	H9 Cell Line	embryonic stem cell
30	chr3:23496400-23497400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr3:23496400-23497400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:23496400-23497400	Enhancers	Ovary	ovary
33	chr3:23496400-23497400	Enhancers	HSMM	muscle
34	chr3:23496400-23497400	Enhancers	NHEK	skin
35	chr3:23496400-23497600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:23496400-23497600	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr3:23496400-23498000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:23496400-23498000	Enhancers	NHDF-Ad	bronchial
39	chr3:23496400-23498000	Enhancers	NHLF	lung
40	chr3:23496400-23498000	Enhancers	Osteobl	bone
41	chr3:23496400-23498200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr3:23496400-23498200	Enhancers	HMEC	breast
43	chr3:23496400-23500800	Weak transcription	Fetal Heart	heart

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