Variant report

Variant	rs383984
Chromosome Location	chr6:14794213-14794214
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2247548	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs233497	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs233498	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs233499	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs233500	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs233501	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs233502	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs233503	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs233505	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2472814	0.85[EUR][1000 genomes]
rs2472816	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2472817	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2500091	0.85[EUR][1000 genomes]
rs415133	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs550573	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56871358	0.85[AFR][1000 genomes]
rs59090811	0.84[EUR][1000 genomes]
rs6935179	0.82[AFR][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	nsv1023685	chr6:14514647-14838390	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1031668	chr6:14774036-15044308	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv538138	chr6:14774036-15044308	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:14787800-14802600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:14789000-14798600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:14790600-14796800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:14790800-14802400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:14791000-14798400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:14791400-14802600	Weak transcription	Fetal Muscle Leg	muscle
7	chr6:14791800-14797800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr6:14792000-14796600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:14792000-14797200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:14792000-14797800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr6:14792600-14796600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr6:14792800-14797600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr6:14793200-14797600	Weak transcription	K562	blood
14	chr6:14793200-14797800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:14793400-14798600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr6:14793600-14803800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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