Variant report

Variant	rs1338387
Chromosome Location	chr6:132688042-132688043
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	chr6:132687277..132689536-chr6:132691486..132694409,3	K562	blood:
2	chr6:132687277..132689201-chr6:132691486..132694409,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10499185	0.86[CEU][hapmap]
rs13190939	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs13196312	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs1338388	0.86[CEU][hapmap];0.89[EUR][1000 genomes]
rs17061202	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs17792959	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs1981187	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28385615	0.83[EUR][1000 genomes]
rs34390977	0.83[EUR][1000 genomes]
rs34608104	0.82[EUR][1000 genomes]
rs34807768	0.82[EUR][1000 genomes]
rs36085961	0.83[EUR][1000 genomes]
rs4897576	0.81[EUR][1000 genomes]
rs4897577	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6914923	0.83[EUR][1000 genomes]
rs7740690	0.82[EUR][1000 genomes]
rs7761051	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs7763146	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7766544	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs9375876	0.86[CEU][hapmap];0.89[EUR][1000 genomes]
rs9375877	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs9385602	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9388985	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9493294	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886674	chr6:132613798-132694751	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv830811	chr6:132623160-132787539	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv886675	chr6:132683762-132730947	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv604668	chr6:132687248-132731358	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132677200-132688600	Weak transcription	Osteobl	bone
2	chr6:132677400-132701200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr6:132678600-132690400	Weak transcription	NH-A	brain
4	chr6:132679000-132690000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr6:132682000-132692200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr6:132682200-132705800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:132685600-132688400	Enhancers	Fetal Kidney	kidney
8	chr6:132686600-132690200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:132686800-132688200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:132686800-132690200	Weak transcription	HSMMtube	muscle
11	chr6:132687000-132690200	Weak transcription	HSMM	muscle
12	chr6:132687000-132690400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:132687200-132689000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:132687200-132690000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:132687400-132690400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:132687800-132689000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:132687800-132690000	Strong transcription	NHDF-Ad	bronchial
18	chr6:132688000-132688400	Enhancers	GM12878-XiMat	blood
19	chr6:132688000-132692000	Weak transcription	Fetal Lung	lung

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