Variant report

Variant	rs4903579
Chromosome Location	chr14:77850940-77850941
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:77787404..77790245-chr14:77850499..77852180,2	MCF-7	breast:
2	chr14:77837551..77839904-chr14:77849824..77852525,2	MCF-7	breast:
3	chr14:77849630..77851345-chr14:77854420..77856161,2	K562	blood:
4	chr14:77786142..77789006-chr14:77849757..77852633,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100577	Chromatin interaction
ENSG00000009830	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10133896	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10149037	1.00[JPT][hapmap]
rs1061629	0.92[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes]
rs1061638	0.85[CHB][hapmap]
rs11159258	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11159259	0.84[EUR][1000 genomes]
rs11159261	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.81[EUR][1000 genomes]
rs11159262	0.93[CEU][hapmap];0.85[CHB][hapmap]
rs11159263	0.93[CEU][hapmap];0.85[CHB][hapmap]
rs11159264	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs11539461	1.00[JPT][hapmap]
rs11622359	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs11623826	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs11624314	1.00[JPT][hapmap]
rs11624990	0.85[CEU][hapmap];0.85[CHB][hapmap]
rs11625365	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs11627016	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11844300	1.00[JPT][hapmap]
rs11844594	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12101153	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12432247	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12433521	1.00[JPT][hapmap]
rs12433766	0.93[CEU][hapmap];0.85[CHB][hapmap]
rs12434419	1.00[JPT][hapmap]
rs12435136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436593	0.92[CEU][hapmap]
rs12587525	0.82[CEU][hapmap]
rs12885869	0.82[EUR][1000 genomes]
rs12889722	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13379432	1.00[JPT][hapmap]
rs147316	0.84[EUR][1000 genomes]
rs176766	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs176767	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs176768	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs176772	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs176773	0.85[EUR][1000 genomes]
rs176778	0.84[EUR][1000 genomes]
rs176781	0.92[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs17751406	1.00[JPT][hapmap]
rs17751412	1.00[JPT][hapmap]
rs17824034	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17824214	1.00[JPT][hapmap]
rs17824316	0.92[CEU][hapmap];0.85[CHB][hapmap]
rs17824322	1.00[JPT][hapmap]
rs2063997	1.00[JPT][hapmap]
rs2091916	0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs2193595	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2242619	0.92[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs2364156	0.81[EUR][1000 genomes]
rs35881785	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3742737	1.00[JPT][hapmap]
rs3783985	1.00[JPT][hapmap]
rs4223	0.92[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs4369582	0.82[EUR][1000 genomes]
rs4575469	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4899652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4899654	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4899655	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs4903576	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4903577	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4903578	1.00[JPT][hapmap]
rs4903580	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4903581	1.00[JPT][hapmap]
rs4903584	0.92[CEU][hapmap];0.85[CHB][hapmap]
rs4903586	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs6574372	0.93[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs6574374	1.00[JPT][hapmap]
rs66466131	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7142380	0.92[CEU][hapmap];0.85[CHB][hapmap]
rs7146595	0.92[CEU][hapmap];0.85[CHB][hapmap]
rs7146784	0.93[CEU][hapmap];0.85[CHB][hapmap]
rs7150718	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7155063	1.00[JPT][hapmap]
rs7156671	1.00[JPT][hapmap]
rs7250	0.92[CEU][hapmap];0.85[CHB][hapmap]
rs8005759	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8006688	0.80[EUR][1000 genomes]
rs8007503	1.00[JPT][hapmap]
rs8010520	1.00[JPT][hapmap]
rs8016070	0.81[EUR][1000 genomes]
rs8016576	0.82[EUR][1000 genomes]
rs8017215	1.00[JPT][hapmap]
rs8018711	0.80[EUR][1000 genomes]
rs8018808	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs963283	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[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	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv902107	chr14:77790416-77871777	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4903579	TMED8	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77844400-77855600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:77844400-77862200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr14:77848000-77857200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:77850200-77854000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr14:77850200-77856400	Weak transcription	Fetal Intestine Small	intestine

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