Variant report

Variant	rs2357663
Chromosome Location	chr8:66947940-66947941
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:66743264..66756293-chr8:66938648..66949139,49	MCF-7	breast:
2	chr8:66947493..66949829-chr8:67023657..67026093,2	K562	blood:
3	chr8:66946238..66950362-chr8:67025196..67028717,4	MCF-7	breast:
4	chr8:66947582..66951459-chr8:67339934..67342685,5	MCF-7	breast:
5	chr8:66673165..66677231-chr8:66944474..66948432,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246145	Chromatin interaction
ENSG00000253190	Chromatin interaction
ENSG00000205268	Chromatin interaction
ENSG00000179041	Chromatin interaction
ENSG00000147576	Chromatin interaction
ENSG00000272192	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10092435	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10097206	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10097560	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10098417	0.92[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10104877	0.95[CEU][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11988360	0.96[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11991974	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs11995587	0.92[ASN][1000 genomes]
rs11995702	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11995704	0.92[ASN][1000 genomes]
rs11996694	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs11997658	0.92[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11998640	0.86[ASN][1000 genomes]
rs12114319	0.96[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16932394	1.00[CHB][hapmap]
rs16932411	0.92[CEU][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2357566	0.92[CEU][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2357568	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2357569	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2357577	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2357579	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2357657	0.96[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2357666	1.00[CEU][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28402886	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28605672	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2884235	0.96[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4262311	0.96[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4317552	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4355757	0.92[CEU][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4380924	0.92[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4637811	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55861240	0.88[ASN][1000 genomes]
rs55864718	0.90[ASN][1000 genomes]
rs56249745	0.88[ASN][1000 genomes]
rs59282311	0.88[ASN][1000 genomes]
rs60020249	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60520895	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60667481	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61709988	0.88[ASN][1000 genomes]
rs6472241	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6472242	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6981354	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs6982577	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6983945	0.96[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6985149	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6989099	0.88[ASN][1000 genomes]
rs6989850	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6992002	0.96[CEU][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6996761	0.92[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6997496	1.00[JPT][hapmap]
rs7000670	0.88[ASN][1000 genomes]
rs7001442	1.00[CHB][hapmap]
rs7002734	0.83[EUR][1000 genomes]
rs7003160	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7006789	0.96[CEU][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7010113	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7010679	0.96[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7012332	0.88[ASN][1000 genomes]
rs7017618	0.96[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7465415	0.92[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7812954	0.88[ASN][1000 genomes]
rs7821284	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9694378	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9918852	0.81[EUR][1000 genomes];0.90[ASN][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	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
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2357663	MTFR1	cis	cerebellum	SCAN
rs2357663	PTTG3P	cis	cerebellum	SCAN
rs2357663	MYBL1	cis	cerebellum	SCAN
rs2357663	MTFR1	cis	parietal	SCAN
rs2357663	C8orf34	cis	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66939600-66952800	Weak transcription	Psoas Muscle	Psoas
2	chr8:66942000-66948200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:66945600-66951200	Weak transcription	Pancreas	Pancrea
4	chr8:66946000-66948600	Weak transcription	GM12878-XiMat	blood
5	chr8:66946000-66949000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:66946000-66949000	Weak transcription	Dnd41	blood
7	chr8:66946000-66951000	Weak transcription	Stomach Mucosa	stomach
8	chr8:66946200-66948600	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr8:66946400-66948400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:66946400-66948600	Weak transcription	Brain Anterior Caudate	brain
11	chr8:66946400-66948600	Weak transcription	Osteobl	bone
12	chr8:66946400-66948800	Weak transcription	Fetal Thymus	thymus
13	chr8:66946400-66949400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:66946400-66955000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr8:66946600-66948000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:66946600-66948000	Weak transcription	A549	lung
17	chr8:66946600-66948400	Weak transcription	Hela-S3	cervix
18	chr8:66946600-66948600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:66946600-66948600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr8:66946600-66948600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr8:66946600-66948600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr8:66946600-66948600	Weak transcription	NHEK	skin
23	chr8:66946600-66953800	Weak transcription	NHDF-Ad	bronchial
24	chr8:66946600-66954000	Weak transcription	HMEC	breast
25	chr8:66946800-66948000	Weak transcription	Gastric	stomach
26	chr8:66946800-66948600	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr8:66947000-66954000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:66947800-66948400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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