Variant report

Variant	rs4944974
Chromosome Location	chr11:74801374-74801375
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:74796178..74800020-chr11:74800917..74805286,4	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10899076	0.86[CHB][hapmap]
rs10899079	0.89[CEU][hapmap];0.84[TSI][hapmap]
rs11236326	0.87[ASN][1000 genomes]
rs11236348	0.89[CHB][hapmap]
rs11236349	0.86[CHB][hapmap]
rs11236350	0.86[CHB][hapmap]
rs11236356	0.89[CEU][hapmap];0.84[TSI][hapmap]
rs11236361	0.89[CEU][hapmap];0.84[TSI][hapmap]
rs11827488	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[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]
rs12270538	0.81[EUR][1000 genomes]
rs12281823	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12288006	0.81[EUR][1000 genomes]
rs12292336	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12361277	0.80[ASN][1000 genomes]
rs12421194	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17133732	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs4100076	0.89[CEU][hapmap];0.81[CHB][hapmap];0.84[JPT][hapmap];0.84[TSI][hapmap]
rs4397881	0.89[CEU][hapmap];0.84[TSI][hapmap]
rs4944072	0.88[ASN][1000 genomes]
rs4944073	0.87[CEU][hapmap]
rs4944975	0.95[CHB][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.87[ASN][1000 genomes]
rs4944990	0.81[CHB][hapmap]
rs4944991	0.81[CHB][hapmap]
rs4944993	0.89[CEU][hapmap];0.84[TSI][hapmap]
rs55986601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58626404	0.91[ASN][1000 genomes]
rs61117837	0.87[ASN][1000 genomes]
rs6592598	0.90[ASW][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6592602	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66687047	0.88[ASN][1000 genomes]
rs67947132	0.80[ASN][1000 genomes]
rs7119732	0.92[ASW][hapmap];0.84[LWK][hapmap];0.82[MEX][hapmap];0.86[MKK][hapmap];0.87[TSI][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7122309	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72996586	0.80[ASN][1000 genomes]
rs7946082	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs881217	0.89[CEU][hapmap];0.84[TSI][hapmap]

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	esv3478707	chr11:74782633-74842791	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
2	esv3478718	chr11:74782633-74842791	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4944974	NEU3	cis	cerebellum	SCAN
rs4944974	KCTD21	cis	cerebellum	SCAN
rs4944974	GDPD4	cis	cerebellum	SCAN
rs4944974	FCHSD2	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74794200-74802000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:74799400-74801800	Strong transcription	K562	blood

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