Variant report

Variant	rs73209352
Chromosome Location	chr5:108280767-108280768
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11953198	1.00[ASN][1000 genomes]
rs17161573	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17161574	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3797817	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3797822	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3851456	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56134914	1.00[ASN][1000 genomes]
rs56381733	0.93[ASN][1000 genomes]
rs56792678	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57158292	1.00[ASN][1000 genomes]
rs58620246	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58642014	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58834152	0.92[EUR][1000 genomes]
rs59055229	0.93[ASN][1000 genomes]
rs59923567	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60094908	0.92[EUR][1000 genomes]
rs60144513	1.00[EUR][1000 genomes]
rs61090818	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61155278	1.00[EUR][1000 genomes]
rs61640970	1.00[ASN][1000 genomes]
rs6594344	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs66485253	1.00[ASN][1000 genomes]
rs66834040	1.00[ASN][1000 genomes]
rs67145801	1.00[ASN][1000 genomes]
rs67156774	1.00[ASN][1000 genomes]
rs67338203	0.93[ASN][1000 genomes]
rs6872912	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72793930	1.00[ASN][1000 genomes]
rs73209329	1.00[ASN][1000 genomes]
rs73209333	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73209338	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73209345	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73209347	1.00[ASN][1000 genomes]
rs73209366	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211525	1.00[ASN][1000 genomes]
rs73211537	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211547	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211557	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211567	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73211580	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73211584	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73211589	1.00[EUR][1000 genomes]
rs73211590	0.92[EUR][1000 genomes]
rs73211596	1.00[EUR][1000 genomes]
rs73213504	1.00[EUR][1000 genomes]
rs73780769	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7713828	1.00[ASN][1000 genomes]
rs7715534	0.92[EUR][1000 genomes]
rs7723264	1.00[ASN][1000 genomes]
rs7723604	1.00[ASN][1000 genomes]
rs7723612	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7723644	1.00[ASN][1000 genomes]
rs7736915	1.00[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	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1016343	chr5:108220116-108364687	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv882691	chr5:108229760-108366473	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108203800-108323400	Weak transcription	Primary B cells from cord blood	blood
2	chr5:108217600-108323200	Weak transcription	Left Ventricle	heart
3	chr5:108230200-108302400	Weak transcription	HSMM	muscle
4	chr5:108244200-108295000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:108254000-108311200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:108268200-108280800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:108268400-108301400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:108270600-108289200	Weak transcription	K562	blood
9	chr5:108277600-108283800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr5:108277600-108322400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr5:108278000-108308200	Weak transcription	Fetal Kidney	kidney
12	chr5:108278800-108280800	Weak transcription	Brain Hippocampus Middle	brain
13	chr5:108279000-108295000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:108279200-108281000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr5:108279200-108302600	Weak transcription	Ovary	ovary
16	chr5:108279200-108325600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:108279400-108285200	Weak transcription	Fetal Lung	lung
18	chr5:108279600-108280800	Weak transcription	Brain Angular Gyrus	brain
19	chr5:108279800-108284000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr5:108279800-108295200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:108280200-108281200	Enhancers	H1 Cell Line	embryonic stem cell
22	chr5:108280200-108282800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr5:108280400-108282000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr5:108280400-108283400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr5:108280400-108283400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr5:108280400-108286000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr5:108280600-108281000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr5:108280600-108281200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr5:108280600-108281400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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