Variant report

Variant	rs1444950
Chromosome Location	chr4:143761816-143761817
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:143392759..143396343-chr4:143760811..143763844,4	MCF-7	breast:
2	chr4:143391004..143397300-chr4:143759915..143764343,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109452	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11100761	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11939835	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13112916	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13122287	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13145724	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1441411	0.85[ASN][1000 genomes]
rs1441417	0.86[ASN][1000 genomes]
rs1441418	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1992652	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2218240	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28416530	0.86[ASN][1000 genomes]
rs4575951	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4690728	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4690730	0.86[ASN][1000 genomes]
rs58445560	0.86[AFR][1000 genomes]
rs60263370	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6537127	0.89[ASN][1000 genomes]
rs6537130	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6811022	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6813785	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6831204	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6839158	0.85[ASN][1000 genomes]
rs6846609	0.84[ASN][1000 genomes]
rs72615963	0.82[ASN][1000 genomes]
rs72728700	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs72730409	0.86[ASN][1000 genomes]
rs73850583	0.86[ASN][1000 genomes]
rs7660533	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7668263	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7670139	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7685997	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs9994364	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[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	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143740200-143765800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:143750800-143762200	Weak transcription	Fetal Heart	heart
3	chr4:143758800-143762600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:143760400-143765800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr4:143761000-143762400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:143761000-143765400	Enhancers	Dnd41	blood
7	chr4:143761600-143764800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr4:143761800-143766200	Weak transcription	Muscle Satellite Cultured Cells	--

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