Variant report

Variant	rs300903
Chromosome Location	chr4:144239802-144239803
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:144238199..144241165-chr4:144253825..144255392,2	K562	blood:
2	chr4:144228357..144232212-chr4:144238301..144241767,5	K562	blood:
3	chr4:144235945..144238860-chr4:144239571..144241521,2	K562	blood:

Variant related genes	Relation type
ENSG00000200049	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10012713	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11947952	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2013856	0.88[ASN][1000 genomes]
rs300890	0.97[ASN][1000 genomes]
rs300891	0.97[ASN][1000 genomes]
rs300892	0.96[ASN][1000 genomes]
rs300893	0.96[ASN][1000 genomes]
rs300894	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs300895	0.96[ASN][1000 genomes]
rs300899	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs300901	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs300902	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs300904	0.97[ASN][1000 genomes]
rs300905	0.97[ASN][1000 genomes]
rs300910	0.83[ASN][1000 genomes]
rs300913	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs300914	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs300915	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs300917	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs300918	0.83[ASN][1000 genomes]
rs300919	0.91[ASN][1000 genomes]
rs300925	0.81[EUR][1000 genomes]
rs300927	0.81[EUR][1000 genomes]
rs300929	0.81[EUR][1000 genomes]
rs300943	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs300946	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs300947	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs300949	0.83[EUR][1000 genomes]
rs300951	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs300953	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs476417	0.83[EUR][1000 genomes]
rs568685	0.95[ASN][1000 genomes]
rs592349	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62337488	0.97[ASN][1000 genomes]
rs624170	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs624189	0.97[ASN][1000 genomes]
rs666542	0.89[AMR][1000 genomes];0.92[EUR][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	nsv1033902	chr4:144114413-144285772	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv3332574	chr4:144239396-144259577	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144235000-144247000	Weak transcription	Right Atrium	heart
2	chr4:144235600-144241000	Weak transcription	Left Ventricle	heart
3	chr4:144238800-144240400	Weak transcription	Fetal Heart	heart
4	chr4:144239000-144240200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr4:144239000-144240200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr4:144239000-144240400	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:144239000-144241000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:144239000-144241200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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