Variant report

Variant	rs2327440
Chromosome Location	chr6:11485622-11485623
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs2140110	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4711303	0.80[CHB][hapmap];0.84[JPT][hapmap]
rs4711306	0.81[MEX][hapmap]
rs4713562	0.80[CHB][hapmap];0.84[JPT][hapmap]
rs4713577	0.83[JPT][hapmap]
rs4713579	0.84[JPT][hapmap]
rs478147	0.84[JPT][hapmap]
rs513870	0.95[JPT][hapmap]
rs554671	0.84[JPT][hapmap]
rs555034	0.84[JPT][hapmap]
rs56055084	0.81[AMR][1000 genomes]
rs566237	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs595877	0.92[CEU][hapmap]
rs606402	0.84[JPT][hapmap]
rs620729	0.95[JPT][hapmap]
rs628980	0.84[JPT][hapmap]
rs675565	0.84[JPT][hapmap]
rs678862	0.84[JPT][hapmap]
rs681483	0.81[CEU][hapmap]
rs6936326	0.96[CEU][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6940859	0.80[EUR][1000 genomes]
rs9348896	0.81[MEX][hapmap]
rs9366805	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9380310	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9380311	0.81[AMR][1000 genomes]
rs9380315	0.81[AMR][1000 genomes]
rs9394102	0.84[CEU][hapmap];0.81[AMR][1000 genomes]
rs9394109	0.84[JPT][hapmap]
rs9394115	0.84[JPT][hapmap]
rs9394119	0.80[ASW][hapmap];0.96[CEU][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9394154	0.92[CEU][hapmap]

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	nsv1021078	chr6:10819083-11558560	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv538135	chr6:10819083-11558560	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv432848	chr6:11371614-11560114	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11480200-11491200	Weak transcription	Fetal Kidney	kidney
2	chr6:11481000-11486600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr6:11481200-11485800	Weak transcription	Ovary	ovary
4	chr6:11483800-11486800	Weak transcription	Lung	lung
5	chr6:11483800-11495000	Weak transcription	Pancreas	Pancrea
6	chr6:11484800-11486600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:11484800-11486800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:11484800-11486800	Enhancers	Brain Substantia Nigra	brain
9	chr6:11485000-11485800	Enhancers	Adipose Nuclei	Adipose
10	chr6:11485000-11486000	Enhancers	Fetal Stomach	stomach
11	chr6:11485000-11486800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr6:11485400-11485800	Enhancers	Brain Anterior Caudate	brain
13	chr6:11485400-11485800	Enhancers	Brain Cingulate Gyrus	brain
14	chr6:11485400-11485800	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr6:11485400-11486000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:11485400-11486000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:11485400-11486600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr6:11485400-11486800	Enhancers	Brain Germinal Matrix	brain
19	chr6:11485400-11486800	Enhancers	Brain Hippocampus Middle	brain
20	chr6:11485400-11487000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:11485400-11487400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:11485400-11488200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:11485600-11486800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:11485600-11488000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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