Variant report

Variant	rs6667210
Chromosome Location	chr1:167012624-167012625
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:167012456..167017091-chr1:167019887..167022128,4	K562	blood:
2	chr1:166844981..166846791-chr1:167011977..167013580,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227907	Chromatin interaction
ENSG00000152382	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10918608	0.87[AFR][1000 genomes]
rs11802666	0.85[AFR][1000 genomes]
rs11805946	0.82[AFR][1000 genomes]
rs12126991	0.96[CEU][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12131832	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12133327	1.00[ASW][hapmap];0.96[CEU][hapmap];0.98[LWK][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12145919	0.82[EUR][1000 genomes]
rs1410247	0.80[ASN][1000 genomes]
rs2025893	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2225153	0.98[ASN][1000 genomes]
rs2312487	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs3736988	1.00[ASW][hapmap];0.96[CEU][hapmap];0.98[LWK][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs393025	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs4657621	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56093705	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs61447801	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs6427051	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs6655947	0.96[CEU][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs6661553	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6673720	0.94[ASW][hapmap];0.96[CEU][hapmap];0.98[LWK][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap]
rs6681562	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6681571	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs6693185	1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap]
rs6694465	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6696203	0.87[CEU][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6698931	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.88[MKK][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004148	chr1:166951869-167016311	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2750815	chr1:166953866-167180342	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv519114	chr1:167003539-167015184	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6667210	MAEL	cis	parietal	SCAN
rs6667210	TADA1	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:167012200-167012800	Enhancers	Primary T helper naive cells from peripheral blood	blood
2	chr1:167012200-167012800	Enhancers	Thymus	Thymus
3	chr1:167012200-167013000	Enhancers	Primary B cells from peripheral blood	blood
4	chr1:167012200-167013800	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr1:167012400-167012800	Enhancers	Primary B cells from cord blood	blood
6	chr1:167012400-167012800	Enhancers	Primary T cells fromperipheralblood	blood
7	chr1:167012400-167012800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr1:167012400-167013000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:167012400-167013000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:167012400-167013000	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr1:167012400-167013000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:167012400-167013000	Enhancers	Colon Smooth Muscle	Colon
13	chr1:167012400-167013000	Enhancers	Fetal Thymus	thymus
14	chr1:167012600-167012800	Enhancers	Primary T cells from cord blood	blood
15	chr1:167012600-167012800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr1:167012600-167012800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:167012600-167012800	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr1:167012600-167012800	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr1:167012600-167012800	Enhancers	Dnd41	blood
20	chr1:167012600-167012800	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr1:167012600-167013000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:167012600-167013000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr1:167012600-167013000	Enhancers	Colonic Mucosa	Colon
24	chr1:167012600-167013200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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