Variant report

Variant	rs2223875
Chromosome Location	chr6:81045452-81045453
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10455370	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10733162	0.85[ASN][1000 genomes]
rs12203572	0.81[EUR][1000 genomes]
rs1474791	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1535075	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1984242	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2179842	0.80[ASN][1000 genomes]
rs2223873	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2322748	0.87[ASN][1000 genomes]
rs2322753	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2322765	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3793000	0.83[ASN][1000 genomes]
rs3805859	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3805869	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805876	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3805877	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3805885	0.80[ASN][1000 genomes]
rs4706117	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4706831	0.82[ASN][1000 genomes]
rs4706834	0.83[ASN][1000 genomes]
rs4706840	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4706841	0.83[EUR][1000 genomes]
rs6907729	0.85[ASN][1000 genomes]
rs6916405	0.84[ASN][1000 genomes]
rs6918172	0.84[ASN][1000 genomes]
rs7762895	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9294173	0.82[ASN][1000 genomes]
rs9341811	0.82[ASN][1000 genomes]
rs9350851	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9352806	0.80[ASN][1000 genomes]
rs9352817	0.87[ASN][1000 genomes]
rs9352826	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9361599	0.87[ASN][1000 genomes]
rs9361600	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034096	chr6:80856135-81150170	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv932996	chr6:80880896-81134991	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv497995	chr6:80883701-81134991	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv1796319	chr6:81034505-81058025	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
5	esv16646	chr6:81040322-81055387	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv531333	chr6:81042427-81836484	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81005200-81056200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:81029400-81079600	Weak transcription	HSMM	muscle
3	chr6:81033800-81070200	Weak transcription	Left Ventricle	heart
4	chr6:81041600-81045600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr6:81042200-81056400	Weak transcription	Fetal Heart	heart
6	chr6:81044400-81046200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:81044400-81048000	Weak transcription	Fetal Brain Female	brain
8	chr6:81044400-81050200	Weak transcription	Fetal Kidney	kidney
9	chr6:81044600-81045600	Active TSS	Right Atrium	heart
10	chr6:81044600-81046000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr6:81044800-81045600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:81045000-81045600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:81045000-81045600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr6:81045200-81045600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:81045200-81046600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr6:81045200-81046800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr6:81045200-81047200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr6:81045200-81047800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:81045200-81047800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr6:81045200-81047800	Weak transcription	Aorta	Aorta
21	chr6:81045200-81048000	Weak transcription	Fetal Stomach	stomach
22	chr6:81045200-81051000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:81045400-81045600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr6:81045400-81045600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:81045400-81045600	Enhancers	Liver	Liver
26	chr6:81045400-81045600	Flanking Active TSS	NHDF-Ad	bronchial
27	chr6:81045400-81045800	Enhancers	Osteobl	bone
28	chr6:81045400-81046600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr6:81045400-81046800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr6:81045400-81046800	Weak transcription	HUVEC	blood vessel

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