Variant report

Variant	rs1023775
Chromosome Location	chr4:47195708-47195709
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10002370	0.83[MEX][hapmap]
rs10015561	0.86[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.83[TSI][hapmap]
rs10021932	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10030659	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs1023776	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11727585	0.91[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11728647	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.88[TSI][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12501039	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13125961	0.86[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13131816	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1372486	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1442094	0.81[MEX][hapmap]
rs1442097	0.91[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1442105	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1596139	0.83[MEX][hapmap]
rs1963910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2044084	0.83[MEX][hapmap]
rs2119779	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2165611	0.93[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs4695197	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6447539	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6819531	0.80[CHB][hapmap]
rs7660544	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs993777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829922	chr4:47093785-47261181	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv879003	chr4:47102993-47215939	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv1009766	chr4:47155845-47277391	Enhancers Flanking Active TSS Weak transcription Active TSS	lncRNA	n/a	inside rSNPs	diseases
4	nsv1013512	chr4:47178547-47213133	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
5	nsv537079	chr4:47178547-47213133	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1023775	HEY2	trans	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47190000-47196400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:47190200-47196200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:47190600-47196600	Weak transcription	Brain Anterior Caudate	brain
4	chr4:47193000-47195800	Weak transcription	Fetal Intestine Small	intestine
5	chr4:47195400-47197200	Enhancers	Fetal Intestine Large	intestine

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