Variant report

Variant	rs1031012
Chromosome Location	chr6:147490820-147490821
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:147487150..147489403-chr6:147490355..147493952,4	K562	blood:
2	chr6:147487237..147491154-chr6:147494860..147497509,4	K562	blood:
3	chr6:147482480..147485033-chr6:147490242..147491745,2	MCF-7	breast:
4	chr6:147489304..147492300-chr6:147501253..147503085,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1031013	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1221645	0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1660690	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2818866	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2818868	0.83[EUR][1000 genomes]
rs559038	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs594981	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs631931	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs652831	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs693573	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs694625	0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.85[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	nsv1019245	chr6:147350834-147609776	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538467	chr6:147350834-147609776	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv886752	chr6:147443480-147729477	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147483000-147491000	Weak transcription	NH-A	brain
2	chr6:147486000-147491200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:147486800-147492600	Enhancers	NHDF-Ad	bronchial
4	chr6:147487200-147493000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr6:147488800-147491800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:147488800-147495400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:147489000-147491800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:147489000-147492600	Weak transcription	K562	blood
9	chr6:147489000-147494200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr6:147489200-147491000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:147489400-147493000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:147489600-147494600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:147490400-147492400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:147490400-147492400	Enhancers	Osteobl	bone
15	chr6:147490600-147492800	Enhancers	HSMM	muscle
16	chr6:147490800-147491000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:147490800-147491400	Enhancers	NHEK	skin
18	chr6:147490800-147492200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:147490800-147492400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:147490800-147492400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:147490800-147492400	Enhancers	HMEC	breast
22	chr6:147490800-147492800	Enhancers	HSMMtube	muscle
23	chr6:147490800-147492800	Enhancers	NHLF	lung

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