Variant report

Variant	rs5998620
Chromosome Location	chr22:33152977-33152978
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: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10483165	0.82[ASN][1000 genomes]
rs1074421	0.82[ASN][1000 genomes]
rs11703138	0.82[ASN][1000 genomes]
rs12157546	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12157560	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12484506	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12484982	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1989438	0.82[ASN][1000 genomes]
rs2013544	0.82[ASN][1000 genomes]
rs57852281	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58237391	0.82[ASN][1000 genomes]
rs5994620	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994622	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5998614	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998623	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998624	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998625	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998626	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5998627	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5998629	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6518798	0.82[ASN][1000 genomes]
rs7284103	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7286761	0.82[ASN][1000 genomes]
rs7287602	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7287772	0.82[ASN][1000 genomes]
rs7289956	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7290713	0.82[ASN][1000 genomes]
rs7291454	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73156468	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73156471	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73156473	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73156475	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73156480	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73156483	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73156485	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73156486	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73156494	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73158303	0.82[ASN][1000 genomes]
rs738990	0.82[ASN][1000 genomes]
rs8136169	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8139641	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8142064	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8142758	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9621568	0.82[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	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
2	esv3329781	chr22:33152853-33153025	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33149200-33153400	Weak transcription	Fetal Thymus	thymus
2	chr22:33149200-33157200	Weak transcription	NHLF	lung
3	chr22:33149400-33156600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr22:33149400-33157400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr22:33149600-33156400	Weak transcription	Placenta	Placenta
6	chr22:33149600-33157000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr22:33150800-33155000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr22:33151000-33156600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr22:33151000-33156600	Weak transcription	Fetal Stomach	stomach
10	chr22:33151000-33158000	Weak transcription	Right Ventricle	heart
11	chr22:33151000-33175400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr22:33151200-33154600	Weak transcription	HSMM	muscle
13	chr22:33151200-33154800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr22:33151200-33154800	Weak transcription	HSMMtube	muscle
15	chr22:33151200-33155000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr22:33151200-33156200	Weak transcription	Lung	lung
17	chr22:33151200-33156400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr22:33151200-33156400	Weak transcription	Osteobl	bone
19	chr22:33151200-33156600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr22:33151200-33157000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr22:33151200-33157000	Weak transcription	NH-A	brain
22	chr22:33151400-33154800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr22:33151400-33155000	Weak transcription	NHDF-Ad	bronchial
24	chr22:33151400-33156400	Weak transcription	Fetal Muscle Leg	muscle
25	chr22:33151400-33156400	Weak transcription	Spleen	Spleen
26	chr22:33151600-33154800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr22:33151600-33154800	Weak transcription	Adipose Nuclei	Adipose
28	chr22:33151600-33156200	Weak transcription	Hela-S3	cervix
29	chr22:33151600-33156400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr22:33151600-33156400	Weak transcription	Psoas Muscle	Psoas
31	chr22:33151800-33155000	Weak transcription	Right Atrium	heart
32	chr22:33151800-33156200	Weak transcription	Left Ventricle	heart
33	chr22:33152600-33153800	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr22:33152600-33154000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr22:33152800-33153600	Enhancers	HepG2	liver
36	chr22:33152800-33158000	Weak transcription	Pancreas	Pancrea

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