Variant report

Variant	rs67222447
Chromosome Location	chr3:46533447-46533448
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46532500..46536089-chr3:46537478..46540838,3	K562	blood:
2	chr3:46530210..46534355-chr3:46598500..46601064,4	K562	blood:
3	chr3:46530210..46534355-chr3:46597750..46601064,4	K562	blood:

Variant related genes	Relation type
ENSG00000268324	Chromatin interaction
ENSG00000163825	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13061783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13062049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13069424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13070959	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13076697	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13077283	0.88[ASN][1000 genomes]
rs13083022	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13093282	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13099992	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13353428	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17078930	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17286758	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28539486	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28595844	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28617572	0.89[EUR][1000 genomes]
rs28670418	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28687398	0.88[EUR][1000 genomes]
rs34167705	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34227041	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34668230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34767161	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34850133	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35056755	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35082490	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35124447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35740565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35760835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35864396	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3934895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55689943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55702201	0.87[ASN][1000 genomes]
rs56106816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56288081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6442001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6442003	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6442004	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66627456	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66702674	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66826527	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs67091203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67228693	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs67305272	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67647205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6769817	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6770016	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6770574	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6772291	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6778305	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6778415	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6778422	0.90[ASN][1000 genomes]
rs6783443	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6792420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67962987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6801427	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6804179	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs68095529	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71622507	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73067779	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73069915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73069952	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7624932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7625793	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7626061	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7628435	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7648827	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9808967	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9846026	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9865911	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9866206	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9867359	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9871405	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014624	chr3:46463424-46549188	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	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
3	nsv1009892	chr3:46496775-46546918	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv536553	chr3:46496775-46546918	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	esv3431590	chr3:46532894-46533459	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46529400-46534200	Enhancers	Dnd41	blood
2	chr3:46530200-46533800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr3:46530400-46533600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr3:46530400-46533800	Enhancers	HSMM	muscle
5	chr3:46530400-46534200	Enhancers	Osteobl	bone
6	chr3:46530800-46535000	Enhancers	Liver	Liver
7	chr3:46530800-46535200	Enhancers	K562	blood
8	chr3:46530800-46538600	Weak transcription	Pancreas	Pancrea
9	chr3:46531000-46534000	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr3:46531000-46534600	Weak transcription	Fetal Intestine Large	intestine
11	chr3:46531000-46538400	Weak transcription	Lung	lung
12	chr3:46531200-46541600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:46531400-46537400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr3:46531400-46537400	Weak transcription	Spleen	Spleen
15	chr3:46531400-46540200	Weak transcription	Left Ventricle	heart
16	chr3:46531600-46537200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:46531600-46537200	Weak transcription	Fetal Thymus	thymus
18	chr3:46531600-46537400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr3:46531800-46537200	Weak transcription	NH-A	brain
20	chr3:46532200-46533600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:46532200-46534400	Enhancers	Fetal Muscle Leg	muscle
22	chr3:46532400-46533600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr3:46532400-46538400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr3:46532400-46538400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:46532600-46533600	Enhancers	HMEC	breast
26	chr3:46532800-46534000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr3:46532800-46534200	Weak transcription	Right Atrium	heart
28	chr3:46532800-46537200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr3:46532800-46538000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr3:46533000-46533600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:46533000-46533600	Enhancers	NHEK	skin
32	chr3:46533000-46537200	Weak transcription	NHLF	lung
33	chr3:46533000-46538400	Weak transcription	Right Ventricle	heart
34	chr3:46533000-46544200	Weak transcription	Psoas Muscle	Psoas
35	chr3:46533200-46533600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr3:46533200-46537200	Weak transcription	HSMMtube	muscle
37	chr3:46533400-46533600	Enhancers	NHDF-Ad	bronchial
38	chr3:46533400-46534600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr3:46533400-46537200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr3:46533400-46537200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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