Variant report

Variant	rs5994619
Chromosome Location	chr22:33151710-33151711
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:33012442..33015422-chr22:33150856..33153115,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1018790	0.88[ASN][1000 genomes]
rs1018792	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11089594	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs130525	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs130530	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs130532	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs130533	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs130538	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs130548	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs130551	0.81[ASN][1000 genomes]
rs130559	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs130560	0.80[AMR][1000 genomes]
rs135149	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2413148	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3827342	0.80[ASN][1000 genomes]
rs4322932	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4635627	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4821094	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4821095	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4821096	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5754251	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5754253	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs5994618	0.86[ASN][1000 genomes]
rs5998616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998622	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72487604	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs762887	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs80269	0.80[AMR][1000 genomes]
rs929013	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs929014	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9606991	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606992	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606993	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9609622	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609623	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609631	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064719	chr22:33028891-33159636	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33149200-33151800	Enhancers	Fetal Intestine Large	intestine
2	chr22:33149200-33153400	Weak transcription	Fetal Thymus	thymus
3	chr22:33149200-33157200	Weak transcription	NHLF	lung
4	chr22:33149400-33152600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr22:33149400-33156600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr22:33149400-33157400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr22:33149600-33156400	Weak transcription	Placenta	Placenta
8	chr22:33149600-33157000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr22:33150400-33151800	Enhancers	Left Ventricle	heart
10	chr22:33150600-33151800	Enhancers	Right Atrium	heart
11	chr22:33150800-33151800	Enhancers	HepG2	liver
12	chr22:33150800-33155000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr22:33151000-33152200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr22:33151000-33156600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr22:33151000-33156600	Weak transcription	Fetal Stomach	stomach
16	chr22:33151000-33158000	Weak transcription	Right Ventricle	heart
17	chr22:33151000-33175400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr22:33151200-33154600	Weak transcription	HSMM	muscle
19	chr22:33151200-33154800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr22:33151200-33154800	Weak transcription	HSMMtube	muscle
21	chr22:33151200-33155000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr22:33151200-33156200	Weak transcription	Lung	lung
23	chr22:33151200-33156400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr22:33151200-33156400	Weak transcription	Osteobl	bone
25	chr22:33151200-33156600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr22:33151200-33157000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr22:33151200-33157000	Weak transcription	NH-A	brain
28	chr22:33151400-33152600	Weak transcription	Pancreas	Pancrea
29	chr22:33151400-33154800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr22:33151400-33155000	Weak transcription	NHDF-Ad	bronchial
31	chr22:33151400-33156400	Weak transcription	Fetal Muscle Leg	muscle
32	chr22:33151400-33156400	Weak transcription	Spleen	Spleen
33	chr22:33151600-33154800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr22:33151600-33154800	Weak transcription	Adipose Nuclei	Adipose
35	chr22:33151600-33156200	Weak transcription	Hela-S3	cervix
36	chr22:33151600-33156400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr22:33151600-33156400	Weak transcription	Psoas Muscle	Psoas

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