Variant report

Variant	rs72990221
Chromosome Location	chr6:130947051-130947052
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EPB41L2-3	chr6:130947013-130947226	NONHSAT114905

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10485095	1.00[AFR][1000 genomes]
rs17059344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17059420	1.00[AFR][1000 genomes]
rs17059453	1.00[AFR][1000 genomes]
rs17059490	1.00[AFR][1000 genomes]
rs17059520	1.00[AFR][1000 genomes]
rs4144215	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55925405	1.00[AFR][1000 genomes]
rs56116438	1.00[AFR][1000 genomes]
rs56275069	1.00[AFR][1000 genomes]
rs56677103	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56684748	1.00[AFR][1000 genomes]
rs56725541	1.00[AFR][1000 genomes]
rs60789680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61286481	0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6902478	1.00[ASN][1000 genomes]
rs6908038	1.00[ASN][1000 genomes]
rs6924980	1.00[ASN][1000 genomes]
rs72499767	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72988292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72988295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72988296	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72990208	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72990296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72990301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72992209	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72992224	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72992225	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72992244	1.00[AFR][1000 genomes]
rs72992266	1.00[AFR][1000 genomes]
rs72992272	1.00[AFR][1000 genomes]
rs72992280	1.00[AFR][1000 genomes]
rs72992285	1.00[AFR][1000 genomes]
rs72992289	1.00[AFR][1000 genomes]
rs72992294	1.00[AFR][1000 genomes]
rs72992295	1.00[AFR][1000 genomes]
rs72992299	1.00[AFR][1000 genomes]
rs72994307	1.00[AFR][1000 genomes]
rs72994310	1.00[AFR][1000 genomes]
rs72994322	1.00[AFR][1000 genomes]
rs72994328	1.00[AFR][1000 genomes]
rs72996247	1.00[AFR][1000 genomes]
rs72996254	1.00[AFR][1000 genomes]
rs72996267	1.00[AFR][1000 genomes]
rs72996271	1.00[AFR][1000 genomes]
rs7774053	0.97[ASN][1000 genomes]
rs9483154	1.00[ASN][1000 genomes]
rs9492659	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9492660	1.00[ASN][1000 genomes]
rs9492661	0.98[ASN][1000 genomes]
rs9492662	1.00[ASN][1000 genomes]
rs9492663	1.00[ASN][1000 genomes]
rs9492665	1.00[ASN][1000 genomes]
rs9492667	0.89[AMR][1000 genomes];1.00[EUR][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	nsv533971	chr6:130490694-131172051	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv427767	chr6:130875056-131008620	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv830806	chr6:130938330-131107137	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:130946000-130947400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:130946400-130947400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr6:130946400-130947600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:130946400-130948000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr6:130946400-130948000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:130946600-130948000	Enhancers	NHDF-Ad	bronchial
7	chr6:130946800-130947800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:130946800-130947800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:130946800-130947800	Enhancers	HUVEC	blood vessel
10	chr6:130946800-130948000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:130946800-130948000	Enhancers	HSMM	muscle
12	chr6:130946800-130948000	Enhancers	Osteobl	bone
13	chr6:130946800-130948200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:130947000-130947200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:130947000-130947400	Enhancers	Hela-S3	cervix
16	chr6:130947000-130947600	Active TSS	GM12878-XiMat	blood
17	chr6:130947000-130947800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:130947000-130947800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr6:130947000-130947800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:130947000-130947800	Enhancers	HSMMtube	muscle
21	chr6:130947000-130947800	Enhancers	NH-A	brain
22	chr6:130947000-130947800	Enhancers	NHEK	skin
23	chr6:130947000-130947800	Enhancers	NHLF	lung
24	chr6:130947000-130948000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr6:130947000-130948000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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