Variant report

Variant	rs7688275
Chromosome Location	chr4:143727241-143727242
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:143726994..143729226-chr4:144104406..144106843,2	K562	blood:

Variant related genes	Relation type
ENSG00000250326	Chromatin interaction
ENSG00000170185	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10024696	0.86[EUR][1000 genomes]
rs10519666	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10857399	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11723982	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11724017	0.90[AMR][1000 genomes]
rs11726381	0.83[AMR][1000 genomes]
rs11933763	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12509304	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12640389	0.86[EUR][1000 genomes]
rs13117185	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1373031	0.86[EUR][1000 genomes]
rs1443183	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1465962	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17016768	0.83[AMR][1000 genomes]
rs17016777	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17016779	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17016789	0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17732408	0.83[AMR][1000 genomes]
rs17732791	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1822360	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1822361	0.86[EUR][1000 genomes]
rs1838082	0.86[EUR][1000 genomes]
rs1867214	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1965828	0.86[EUR][1000 genomes]
rs1992417	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1992418	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2589994	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs331939	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs331940	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs331942	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs331948	0.80[EUR][1000 genomes]
rs331953	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs331963	0.80[EUR][1000 genomes]
rs34831472	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4690726	0.86[EUR][1000 genomes]
rs56011189	0.83[AMR][1000 genomes]
rs6537124	0.80[EUR][1000 genomes]
rs6831562	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6852570	0.80[EUR][1000 genomes]
rs72728641	0.83[AMR][1000 genomes]
rs72728649	0.83[AMR][1000 genomes]
rs72728651	0.83[AMR][1000 genomes]
rs72728654	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72728667	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72728681	0.87[AMR][1000 genomes]
rs72728686	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7376475	0.82[EUR][1000 genomes]
rs7667183	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7668552	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7668786	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7679151	0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7695461	0.90[AMR][1000 genomes];0.81[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	nsv595606	chr4:143631691-143729595	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv880174	chr4:143639498-143848024	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143698800-143738600	Weak transcription	Aorta	Aorta
2	chr4:143709200-143732200	Weak transcription	Left Ventricle	heart
3	chr4:143718600-143736600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr4:143720200-143733200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr4:143724000-143732200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:143724000-143732400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:143724000-143737000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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