Variant report

Variant	rs67647205
Chromosome Location	chr3:46532212-46532213
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46530210..46534355-chr3:46598500..46601064,4	K562	blood:
2	chr3:46530210..46534355-chr3:46597750..46601064,4	K562	blood:
3	chr3:46531010..46533398-chr3:46589733..46592357,3	K562	blood:
4	chr3:46530992..46532877-chr3:46591442..46593990,2	K562	blood:
5	chr3:46530490..46532908-chr3:46536819..46540385,3	K562	blood:

Variant related genes	Relation type
ENSG00000264306	Chromatin interaction
ENSG00000163825	Chromatin interaction
ENSG00000268324	Chromatin interaction

Extended variants
information (count: 75 )
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];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13062049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13069424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13070959	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13076697	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13077283	0.88[ASN][1000 genomes]
rs13083022	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13093282	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13099992	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[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];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17286758	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28539486	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28595844	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28617572	0.83[EUR][1000 genomes]
rs28670418	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28687398	0.82[EUR][1000 genomes]
rs34167705	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34227041	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34668230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34767161	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34850133	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35056755	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35082490	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35124447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35740565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35760835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35864396	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3934895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55689943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[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];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56288081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6442001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6442003	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6442004	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66627456	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66702674	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66826527	0.87[AMR][1000 genomes]
rs67091203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67222447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67228693	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs67305272	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6769817	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6770016	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6770574	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6772291	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6778305	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6778415	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6778422	0.90[ASN][1000 genomes]
rs6783443	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6792420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67962987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6801427	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6804179	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs68095529	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs71622507	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73067779	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73069915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73069952	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7624932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7625793	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7626061	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7628435	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7648827	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9808967	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9846026	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9865911	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9866206	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9867359	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9871405	0.83[EUR][1000 genomes];0.90[ASN][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	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

No data

Chromatin state (count:45 , 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	chr3:46530400-46533000	Enhancers	NHDF-Ad	bronchial
4	chr3:46530400-46533400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:46530400-46533600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr3:46530400-46533800	Enhancers	HSMM	muscle
7	chr3:46530400-46534200	Enhancers	Osteobl	bone
8	chr3:46530600-46532800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr3:46530600-46533200	Enhancers	HSMMtube	muscle
10	chr3:46530800-46532400	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr3:46530800-46532400	Enhancers	Thymus	Thymus
12	chr3:46530800-46532600	Weak transcription	Right Atrium	heart
13	chr3:46530800-46533200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr3:46530800-46535000	Enhancers	Liver	Liver
15	chr3:46530800-46535200	Enhancers	K562	blood
16	chr3:46530800-46538600	Weak transcription	Pancreas	Pancrea
17	chr3:46531000-46532600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr3:46531000-46532600	Weak transcription	Stomach Mucosa	stomach
19	chr3:46531000-46532800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr3:46531000-46532800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr3:46531000-46533400	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr3:46531000-46534000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr3:46531000-46534600	Weak transcription	Fetal Intestine Large	intestine
24	chr3:46531000-46538400	Weak transcription	Lung	lung
25	chr3:46531200-46532400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr3:46531200-46532600	Weak transcription	Psoas Muscle	Psoas
27	chr3:46531200-46532600	Weak transcription	Right Ventricle	heart
28	chr3:46531200-46533000	Weak transcription	NHEK	skin
29	chr3:46531200-46541600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr3:46531400-46532600	Weak transcription	Gastric	stomach
31	chr3:46531400-46532800	Weak transcription	NHLF	lung
32	chr3:46531400-46533000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr3:46531400-46537400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:46531400-46537400	Weak transcription	Spleen	Spleen
35	chr3:46531400-46540200	Weak transcription	Left Ventricle	heart
36	chr3:46531600-46532600	Weak transcription	HMEC	breast
37	chr3:46531600-46533200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr3:46531600-46537200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:46531600-46537200	Weak transcription	Fetal Thymus	thymus
40	chr3:46531600-46537400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr3:46531800-46537200	Weak transcription	NH-A	brain
42	chr3:46532000-46532400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr3:46532000-46532400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr3:46532200-46533600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr3:46532200-46534400	Enhancers	Fetal Muscle Leg	muscle

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