Variant report

Variant	rs62333612
Chromosome Location	chr4:149292495-149292496
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10001430	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10034882	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10519958	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1512329	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17484678	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17484811	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17581787	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17581884	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17581905	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17581947	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17581996	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28588362	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28621626	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28639664	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28648617	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28698626	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4835516	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56387992	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57419274	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62333616	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62333649	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6831376	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72729968	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9631755	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9631756	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9991002	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9993239	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9999121	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027263	chr4:149127120-149320135	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv537296	chr4:149127120-149320135	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1016966	chr4:149209467-149341037	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3584816	chr4:149254670-149293317	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv530433	chr4:149277637-149669181	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv880246	chr4:149287807-149311728	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:149277000-149296800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr4:149277000-149306800	Weak transcription	Pancreas	Pancrea
3	chr4:149281200-149300800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr4:149282800-149296800	Weak transcription	Psoas Muscle	Psoas
5	chr4:149283000-149299000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:149283200-149293400	Weak transcription	Right Atrium	heart
7	chr4:149288400-149297000	Weak transcription	Fetal Heart	heart
8	chr4:149289400-149293400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr4:149289400-149294200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr4:149289400-149294200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr4:149289600-149294200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr4:149289600-149297000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr4:149290200-149297200	Weak transcription	Aorta	Aorta
14	chr4:149290400-149296800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr4:149291200-149296800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr4:149291400-149297000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr4:149291400-149297200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr4:149291600-149296800	Weak transcription	HepG2	liver
19	chr4:149292000-149296600	Weak transcription	HUVEC	blood vessel
20	chr4:149292200-149298600	Weak transcription	Left Ventricle	heart
21	chr4:149292200-149315000	Weak transcription	Fetal Muscle Leg	muscle

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