Variant report

Variant	rs7823449
Chromosome Location	chr8:66914580-66914581
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	chr8:66914244..66914789-chr8:66944445..66945132,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

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];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932433	0.85[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[TSI][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];0.87[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.99[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];0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28364018	1.00[CHB][hapmap]
rs4366069	1.00[CHB][hapmap]
rs4380923	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.80[TSI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4495409	1.00[CHB][hapmap]
rs4495411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62506635	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62506642	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62506643	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62506644	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62506646	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62507392	0.98[AMR][1000 genomes];0.99[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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6988195	1.00[CHB][hapmap]
rs7006334	0.84[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.97[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];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7016694	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7814933	1.00[CHB][hapmap]
rs7818219	1.00[CHB][hapmap]
rs7834423	1.00[CHB][hapmap]
rs7835948	1.00[CHB][hapmap]
rs7836993	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7845334	1.00[CHB][hapmap]
rs7846530	0.86[AMR][1000 genomes];1.00[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7823449	MTFR1	cis	cerebellum	SCAN
rs7823449	MTFR1	cis	multi-tissue	Pritchard

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66909800-66915400	Enhancers	Primary T cells fromperipheralblood	blood
2	chr8:66909800-66915400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr8:66910000-66915800	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr8:66910000-66916200	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr8:66910200-66914600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr8:66910200-66915200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr8:66910200-66915600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr8:66910200-66917800	Enhancers	Primary T cells from cord blood	blood
9	chr8:66911800-66917200	Weak transcription	Small Intestine	intestine
10	chr8:66912000-66917000	Weak transcription	Fetal Intestine Large	intestine
11	chr8:66912000-66917000	Weak transcription	Fetal Intestine Small	intestine
12	chr8:66912000-66918400	Weak transcription	Primary B cells from cord blood	blood
13	chr8:66912600-66915400	Enhancers	Fetal Thymus	thymus
14	chr8:66912800-66914600	Enhancers	Thymus	Thymus
15	chr8:66912800-66915600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:66913000-66914600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr8:66913000-66914600	Enhancers	Dnd41	blood
18	chr8:66913200-66914800	Enhancers	Primary hematopoietic stem cells	blood
19	chr8:66913800-66914600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:66913800-66914600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:66913800-66915800	Weak transcription	Primary B cells from peripheral blood	blood
22	chr8:66914000-66914600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr8:66914200-66914600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr8:66914200-66914600	Enhancers	Pancreas	Pancrea
25	chr8:66914400-66914600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr8:66914400-66914600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr8:66914400-66915400	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr8:66914400-66915600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr8:66914400-66916600	Enhancers	Primary T helper cells PMA-I stimulated	--

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