Variant report

Variant	rs4380923
Chromosome Location	chr8:66920624-66920625
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:66752167..66754287-chr8:66919773..66922247,2	MCF-7	breast:
2	chr8:66918473..66922547-chr8:66931459..66935939,5	MCF-7	breast:
3	chr8:66859588..66861651-chr8:66920158..66921660,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205268	Chromatin interaction
ENSG00000147570	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10092687	1.00[CHB][hapmap]
rs10095931	1.00[CHB][hapmap]
rs10101457	1.00[CHB][hapmap]
rs10113208	1.00[CHB][hapmap]
rs12334408	1.00[CHB][hapmap]
rs16932426	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932433	0.85[CEU][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs16932461	1.00[CHB][hapmap]
rs16932465	1.00[CHB][hapmap]
rs16932468	1.00[CHB][hapmap]
rs16932544	1.00[CHB][hapmap]
rs17306183	1.00[CHB][hapmap]
rs17307227	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357570	1.00[CHB][hapmap]
rs2357571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28364018	1.00[CHB][hapmap]
rs4366069	1.00[CHB][hapmap]
rs4495409	1.00[CHB][hapmap]
rs4495411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4549750	0.91[ASN][1000 genomes]
rs4565445	1.00[CHB][hapmap]
rs58902647	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62506635	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62506642	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62506643	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62506644	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62506646	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62507392	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472245	1.00[CHB][hapmap]
rs6472251	1.00[CHB][hapmap]
rs6985796	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6988195	1.00[CHB][hapmap]
rs7006334	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.80[TSI][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7006394	1.00[CHB][hapmap]
rs7008359	1.00[CHB][hapmap]
rs7008578	1.00[CHB][hapmap]
rs7011399	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7016694	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7814933	1.00[CHB][hapmap]
rs7818219	1.00[CHB][hapmap]
rs7823449	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834423	1.00[CHB][hapmap]
rs7835948	1.00[CHB][hapmap]
rs7836993	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7845334	1.00[CHB][hapmap]
rs7846530	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4380923	MTFR1	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66914600-66922200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr8:66914800-66922400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr8:66915200-66922200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr8:66915400-66920800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr8:66915400-66922200	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr8:66915400-66922200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:66916400-66930600	Weak transcription	Thymus	Thymus
8	chr8:66916800-66923400	Enhancers	Primary B cells from peripheral blood	blood
9	chr8:66918200-66921400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr8:66918400-66921200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr8:66918400-66921800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr8:66918600-66921400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr8:66918600-66922000	Weak transcription	Primary T cells from cord blood	blood
14	chr8:66918800-66922000	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr8:66919200-66921000	Weak transcription	GM12878-XiMat	blood
16	chr8:66920200-66922000	Enhancers	Primary B cells from cord blood	blood
17	chr8:66920200-66922000	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr8:66920200-66923400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr8:66920400-66921400	Weak transcription	Fetal Thymus	thymus
20	chr8:66920600-66923400	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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