Variant report

Variant	rs13123629
Chromosome Location	chr4:100601326-100601327
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:100482549..100484844-chr4:100599474..100602380,2	MCF-7	breast:
2	chr4:100596383..100598271-chr4:100600474..100602564,2	K562	blood:
3	chr4:100600958..100602853-chr4:100669495..100672060,2	K562	blood:
4	chr4:100599846..100602289-chr4:100612890..100615438,2	K562	blood:

Variant related genes	Relation type
ENSG00000145331	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1027223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10516455	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1115721	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11722443	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11727560	0.85[AMR][1000 genomes]
rs11730739	0.88[ASN][1000 genomes]
rs11936303	0.95[ASN][1000 genomes]
rs12640222	0.97[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12642668	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12643245	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12648843	0.91[ASN][1000 genomes]
rs13103880	0.85[EUR][1000 genomes]
rs13111133	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13111603	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13112253	0.88[ASN][1000 genomes]
rs13114983	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13118288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13123690	0.88[ASN][1000 genomes]
rs13124255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13130068	0.95[ASN][1000 genomes]
rs13150247	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1352775	0.97[ASN][1000 genomes]
rs1388295	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1426734	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1582793	0.85[ASN][1000 genomes]
rs1586756	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1586757	0.96[ASN][1000 genomes]
rs17029269	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17029387	0.92[ASN][1000 genomes]
rs1816197	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1834659	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1948353	0.95[ASN][1000 genomes]
rs2866167	0.94[ASN][1000 genomes]
rs35215295	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs36098323	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61705069	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs66931934	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6831328	0.95[ASN][1000 genomes]
rs6832692	0.95[ASN][1000 genomes]
rs6840719	0.97[ASN][1000 genomes]
rs71614607	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7670607	0.91[ASN][1000 genomes]
rs7677594	0.94[ASN][1000 genomes]
rs7678889	0.90[ASN][1000 genomes]
rs7688255	0.84[ASN][1000 genomes]
rs7691498	0.83[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	nsv933074	chr4:100460951-100630600	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100598600-100601400	Weak transcription	Aorta	Aorta
2	chr4:100599600-100601600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr4:100599600-100601600	Enhancers	Ovary	ovary
4	chr4:100599800-100601400	Weak transcription	Left Ventricle	heart
5	chr4:100600400-100601400	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr4:100600400-100601600	Enhancers	Fetal Muscle Leg	muscle
7	chr4:100600400-100601600	Enhancers	Psoas Muscle	Psoas
8	chr4:100600600-100601600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:100600600-100601600	Enhancers	Liver	Liver
10	chr4:100600800-100605000	Weak transcription	Fetal Lung	lung
11	chr4:100601200-100601400	Enhancers	Fetal Heart	heart
12	chr4:100601200-100601400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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