Variant report

Variant	rs72654969
Chromosome Location	chr4:84480984-84480985
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	chr4:84478602..84481409-chr4:84484518..84487329,3	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10002139	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10009351	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10012782	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11721920	0.98[ASN][1000 genomes]
rs11722160	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11723311	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11730975	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11731267	0.96[ASN][1000 genomes]
rs11731336	0.96[ASN][1000 genomes]
rs11733281	0.98[ASN][1000 genomes]
rs11734158	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11736724	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11737424	0.98[ASN][1000 genomes]
rs12331130	0.98[ASN][1000 genomes]
rs12331142	0.98[ASN][1000 genomes]
rs12331198	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12331205	0.98[ASN][1000 genomes]
rs12331922	0.98[ASN][1000 genomes]
rs17006888	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17353060	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17355300	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17355321	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1965464	0.97[ASN][1000 genomes]
rs28463240	0.98[ASN][1000 genomes]
rs28482178	0.98[ASN][1000 genomes]
rs28504032	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28542730	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28587748	0.98[ASN][1000 genomes]
rs28615868	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28710332	0.98[ASN][1000 genomes]
rs35434386	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4693092	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4693093	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55724846	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs55839835	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55851819	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56003368	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56208893	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56394927	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62303966	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62303968	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62305330	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62305331	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62305332	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62305333	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62305334	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62305335	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62305336	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62305339	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62305340	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62305342	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62305343	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6812240	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6812267	0.98[ASN][1000 genomes]
rs6835060	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6835481	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72654977	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72654978	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9307826	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829994	chr4:84366299-84558316	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv879512	chr4:84374692-85090749	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv1010009	chr4:84469896-84882528	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:84458600-84482000	Weak transcription	Ovary	ovary
2	chr4:84461000-84481800	Weak transcription	Right Ventricle	heart
3	chr4:84473000-84483000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr4:84473200-84481400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:84474800-84482600	Weak transcription	Osteobl	bone
6	chr4:84476200-84483400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr4:84476400-84481600	Enhancers	Primary hematopoietic stem cells	blood
8	chr4:84476600-84481200	Weak transcription	Left Ventricle	heart
9	chr4:84477600-84481800	Weak transcription	Fetal Heart	heart
10	chr4:84478000-84483200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:84479000-84482800	Enhancers	A549	lung
12	chr4:84479600-84481200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:84479800-84481800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr4:84479800-84482000	Weak transcription	HUVEC	blood vessel
15	chr4:84479800-84482200	Weak transcription	NHLF	lung
16	chr4:84479800-84484400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:84480000-84482400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:84480000-84482400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:84480000-84482400	Weak transcription	NHEK	skin
20	chr4:84480000-84482600	Weak transcription	NHDF-Ad	bronchial
21	chr4:84480000-84483600	Weak transcription	NH-A	brain
22	chr4:84480200-84481000	Weak transcription	K562	blood
23	chr4:84480200-84481600	Weak transcription	Hela-S3	cervix
24	chr4:84480200-84482000	Weak transcription	HMEC	breast
25	chr4:84480200-84483200	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr4:84480200-84489400	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr4:84480400-84483000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr4:84480600-84481200	Enhancers	Colon Smooth Muscle	Colon
29	chr4:84480600-84482200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr4:84480800-84481000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr4:84480800-84481200	Weak transcription	Right Atrium	heart
32	chr4:84480800-84482200	Enhancers	Psoas Muscle	Psoas

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