Variant report

Variant	rs67305272
Chromosome Location	chr3:46557812-46557813
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs13061783	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13062049	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13069424	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13070959	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13076697	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13077283	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13083022	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13093282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13099992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13353428	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17078930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17286758	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28539486	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28595844	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28617572	0.95[EUR][1000 genomes]
rs28670418	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28687398	0.94[EUR][1000 genomes]
rs34167705	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34227041	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34668230	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34767161	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34850133	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35056755	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35082490	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35124447	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35740565	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35760835	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35864396	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3934895	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55689943	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55702201	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56106816	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56288081	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6442001	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6442003	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6442004	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66627456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66702674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66826527	0.82[AMR][1000 genomes]
rs67091203	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67222447	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67228693	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs67647205	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6769817	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6770016	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6770574	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6772291	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6778305	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6778415	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6778422	0.90[ASN][1000 genomes]
rs6783443	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6792420	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67962987	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6801427	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6804179	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs68095529	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs71622507	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73067779	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs73069915	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73069952	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7624932	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7625793	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7626061	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7628435	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7648827	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9808967	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9846026	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9865911	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9866206	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9867359	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9871405	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013306	chr3:46469014-46698538	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv963257	chr3:46553551-46557829	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46541000-46580200	Weak transcription	Fetal Heart	heart
2	chr3:46541200-46562200	Weak transcription	Right Ventricle	heart
3	chr3:46544800-46599400	Weak transcription	Right Atrium	heart
4	chr3:46545600-46558000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:46545600-46559200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr3:46549200-46585400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:46549400-46579000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr3:46549600-46578600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr3:46553200-46558000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr3:46553200-46558000	Weak transcription	HSMMtube	muscle
11	chr3:46555000-46567800	Weak transcription	Fetal Muscle Leg	muscle
12	chr3:46555400-46561800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:46556200-46558000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:46556400-46591000	Weak transcription	Psoas Muscle	Psoas
15	chr3:46556800-46560800	Weak transcription	Ovary	ovary
16	chr3:46557200-46558000	Enhancers	Hela-S3	cervix
17	chr3:46557200-46559600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr3:46557200-46559800	Enhancers	HMEC	breast
19	chr3:46557400-46559600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr3:46557400-46559600	Enhancers	HUVEC	blood vessel
21	chr3:46557600-46558400	Enhancers	Spleen	Spleen
22	chr3:46557600-46558600	Enhancers	K562	blood
23	chr3:46557600-46559600	Strong transcription	Left Ventricle	heart
24	chr3:46557600-46559800	Enhancers	NHEK	skin
25	chr3:46557800-46558600	Enhancers	A549	lung
26	chr3:46557800-46559400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:46557800-46559400	Enhancers	NH-A	brain
28	chr3:46557800-46559600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr3:46557800-46559600	Enhancers	NHDF-Ad	bronchial
30	chr3:46557800-46559800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr3:46557800-46560600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:46557800-46578400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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