Variant report

Variant	rs13128244
Chromosome Location	chr4:110760127-110760128
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:110758473..110760831-chr4:110760932..110762663,2	K562	blood:
2	chr4:110746853..110748565-chr4:110758784..110761591,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10022841	0.88[CEU][hapmap];0.84[TSI][hapmap]
rs10516559	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12500239	0.83[EUR][1000 genomes]
rs12504835	0.83[EUR][1000 genomes]
rs12513108	0.88[CEU][hapmap];0.89[TSI][hapmap]
rs12643147	0.83[EUR][1000 genomes]
rs12644142	0.88[CEU][hapmap];0.89[TSI][hapmap];0.83[EUR][1000 genomes]
rs13112387	0.83[EUR][1000 genomes]
rs13115969	0.83[CEU][hapmap]
rs13140289	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs13141065	0.83[CEU][hapmap];0.89[TSI][hapmap]
rs13150454	0.88[CEU][hapmap];0.89[TSI][hapmap]
rs1860130	0.88[CEU][hapmap];0.89[TSI][hapmap];0.83[EUR][1000 genomes]
rs2078040	0.83[CEU][hapmap]
rs2347130	0.83[CEU][hapmap]
rs34377477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34378309	0.83[EUR][1000 genomes]
rs34706258	0.81[EUR][1000 genomes]
rs35426158	0.83[EUR][1000 genomes]
rs3775961	0.83[CEU][hapmap]
rs4353905	0.88[CEU][hapmap];0.89[TSI][hapmap];0.83[EUR][1000 genomes]
rs4422417	0.87[CEU][hapmap];0.86[TSI][hapmap]
rs4610335	0.88[CEU][hapmap];0.89[TSI][hapmap];0.83[EUR][1000 genomes]
rs4698749	0.88[CEU][hapmap]
rs4698750	0.83[EUR][1000 genomes]
rs4698751	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4698795	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4698799	0.81[AMR][1000 genomes]
rs55814498	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62324955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62327573	0.87[EUR][1000 genomes]
rs6814743	0.88[CEU][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs6816185	0.83[CEU][hapmap]
rs6841737	0.83[CEU][hapmap]
rs6842245	0.81[CEU][hapmap]
rs6858351	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs7657133	0.88[CEU][hapmap];0.89[TSI][hapmap]
rs7678178	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs7698794	0.83[EUR][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	nsv530156	chr4:110721397-110911297	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs13128244	RRH	cis	parietal	SCAN
rs13128244	FAM53B	trans	lymphoblastoid	seeQTL
rs13128244	CYP2U1	cis	parietal	SCAN
rs13128244	ENPEP	cis	cerebellum	SCAN
rs13128244	RRH	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110737600-110770600	Weak transcription	Aorta	Aorta
2	chr4:110738000-110760800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr4:110742200-110764400	Weak transcription	Brain Hippocampus Middle	brain
4	chr4:110744400-110774400	Weak transcription	Psoas Muscle	Psoas
5	chr4:110744600-110773200	Weak transcription	Primary T cells from cord blood	blood
6	chr4:110746400-110764000	Weak transcription	Primary B cells from cord blood	blood
7	chr4:110746600-110761200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr4:110746800-110767600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr4:110757800-110762200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr4:110757800-110772800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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