Variant report

Variant	rs2357570
Chromosome Location	chr8:66917995-66917996
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	chr8:66917887..66919712-chr8:66932968..66934501,2	MCF-7	breast:
2	chr8:66916676..66919243-chr8:66940181..66941759,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147570	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10092687	1.00[CHB][hapmap]
rs10095931	1.00[CHB][hapmap]
rs10101457	1.00[CHB][hapmap]
rs10113208	1.00[CHB][hapmap]
rs1108213	0.97[ASN][1000 genomes]
rs11984602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11985050	1.00[CEU][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11988589	0.84[EUR][1000 genomes]
rs11994407	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11994927	0.88[CEU][hapmap]
rs12334408	1.00[CHB][hapmap]
rs16932426	1.00[CHB][hapmap]
rs16932461	1.00[CHB][hapmap]
rs16932465	1.00[CHB][hapmap]
rs16932468	1.00[CHB][hapmap]
rs16932544	1.00[CHB][hapmap]
rs17306183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17307227	1.00[CHB][hapmap]
rs2357567	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357571	1.00[CHB][hapmap]
rs28364018	1.00[CHB][hapmap]
rs34464051	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35753080	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4366069	1.00[CHB][hapmap]
rs4380923	1.00[CHB][hapmap]
rs4487748	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4495409	1.00[CHB][hapmap]
rs4495411	1.00[CHB][hapmap]
rs4565445	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[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]
rs57683289	0.83[EUR][1000 genomes]
rs58489131	0.97[ASN][1000 genomes]
rs58817197	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62506636	0.97[ASN][1000 genomes]
rs62506637	0.97[ASN][1000 genomes]
rs62506650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62507386	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472245	1.00[CHB][hapmap]
rs6472251	1.00[CHB][hapmap]
rs6985796	1.00[CHB][hapmap]
rs6988195	1.00[CHB][hapmap]
rs7001192	0.96[YRI][hapmap]
rs7001442	0.96[YRI][hapmap]
rs7006334	1.00[CHB][hapmap]
rs7006394	1.00[CHB][hapmap]
rs7008359	1.00[CHB][hapmap]
rs7008578	1.00[CHB][hapmap]
rs7011264	0.97[ASN][1000 genomes]
rs7017127	0.97[ASN][1000 genomes]
rs7812439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7814933	1.00[CHB][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7818219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs7834423	1.00[CHB][hapmap]
rs7835948	1.00[CHB][hapmap]
rs7836993	1.00[CHB][hapmap]
rs7845334	1.00[CHB][hapmap]
rs950729	1.00[AFR][1000 genomes];1.00[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2357570	MTFR1	cis	parietal	SCAN
rs2357570	PTTG3P	cis	cerebellum	SCAN
rs2357570	MTFR1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66912000-66918400	Weak transcription	Primary B cells from cord blood	blood
2	chr8:66914600-66918200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr8:66914600-66922200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:66914800-66922400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr8:66915200-66922200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:66915400-66920800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr8:66915400-66922200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr8:66915400-66922200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr8:66916400-66930600	Weak transcription	Thymus	Thymus
10	chr8:66916800-66923400	Enhancers	Primary B cells from peripheral blood	blood
11	chr8:66917000-66918200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr8:66917000-66918600	Enhancers	Fetal Intestine Small	intestine
13	chr8:66917000-66919000	Enhancers	Fetal Intestine Large	intestine
14	chr8:66917200-66918200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr8:66917200-66918600	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr8:66917400-66918400	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr8:66917600-66918000	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr8:66917800-66918200	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr8:66917800-66918200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr8:66917800-66918400	Weak transcription	Primary T cells from cord blood	blood

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