Variant report

Variant	rs1405127
Chromosome Location	chr7:48285664-48285665
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	chr7:48279225..48282090-chr7:48283159..48287155,3	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10279899	0.89[ASN][1000 genomes]
rs10499674	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11971891	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11973628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11977108	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11977113	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11979757	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11983863	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11984356	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12113721	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];0.94[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]
rs12154357	1.00[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.88[MEX][hapmap];0.92[ASN][1000 genomes]
rs1405126	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1526095	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1526099	0.94[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs1526101	0.91[CHB][hapmap];0.92[ASN][1000 genomes]
rs1526103	0.92[ASN][1000 genomes]
rs17132158	1.00[CHB][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17132163	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17661073	0.94[CHB][hapmap];0.94[CHD][hapmap];0.83[MEX][hapmap];0.84[ASN][1000 genomes]
rs17661645	0.83[CHD][hapmap]
rs17712132	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs17712156	0.80[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2049513	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.84[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2049514	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2361519	0.91[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4260852	0.83[CHD][hapmap]
rs4917172	0.93[ASN][1000 genomes]
rs55692458	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56033844	0.92[ASN][1000 genomes]
rs56128450	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56141508	0.95[ASN][1000 genomes]
rs56189438	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56322739	0.88[ASN][1000 genomes]
rs56713035	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57076543	0.95[ASN][1000 genomes]
rs57501478	0.92[ASN][1000 genomes]
rs57919572	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59539486	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59778503	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60243824	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60553397	0.84[ASN][1000 genomes]
rs60902279	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60913257	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62449168	0.92[ASN][1000 genomes]
rs62449181	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62449183	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62449184	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62449185	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62449186	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62449188	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62449189	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62449190	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62449192	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6583458	0.94[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap]
rs6583483	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6583541	0.89[ASN][1000 genomes]
rs6944866	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6945480	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6948966	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6974746	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6975324	0.94[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs7357106	0.94[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs73694378	0.85[ASN][1000 genomes]
rs7777880	1.00[CHB][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7797192	0.93[ASN][1000 genomes]
rs7804075	0.94[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs9784959	1.00[CHB][hapmap];0.88[CHD][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470221	chr7:47917495-48354363	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv464442	chr7:47917495-48354820	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv606893	chr7:47917495-48354820	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1027414	chr7:48117684-48438543	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1033738	chr7:48143988-48349357	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv817336	chr7:48238233-48563988	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1022980	chr7:48243227-48567060	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv538833	chr7:48243227-48567060	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1022578	chr7:48244414-48584664	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1023575	chr7:48244414-48586685	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1015183	chr7:48244414-48588598	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1405127	CDC14C	cis	cerebellum	SCAN
rs1405127	DDC	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48277600-48290400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:48279800-48289200	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr7:48283000-48286000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:48283400-48286400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:48283600-48286000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr7:48283600-48286200	Enhancers	Primary hematopoietic stem cells	blood
7	chr7:48283800-48286600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr7:48284000-48286000	Enhancers	HMEC	breast
9	chr7:48284000-48286200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:48284000-48286200	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr7:48284200-48286000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:48284200-48286600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr7:48284400-48285800	Enhancers	Adipose Nuclei	Adipose
14	chr7:48284600-48285800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:48284600-48286400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:48284800-48286000	Enhancers	GM12878-XiMat	blood
17	chr7:48284800-48286000	Enhancers	HUVEC	blood vessel
18	chr7:48284800-48286200	Enhancers	NH-A	brain
19	chr7:48284800-48286600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:48284800-48289800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:48284800-48290000	Weak transcription	NHLF	lung
22	chr7:48284800-48290400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:48285000-48286200	Weak transcription	Fetal Lung	lung
24	chr7:48285000-48290200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:48285400-48286000	Enhancers	Primary B cells from cord blood	blood
26	chr7:48285600-48285800	Enhancers	Osteobl	bone

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