Variant report

Variant	rs1938184
Chromosome Location	chr6:48795084-48795085
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	chr19:58948315..58949278-chr6:48794575..48795309,2	Hela-S3	cervix:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12205761	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1938176	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1938179	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1938185	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938190	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1938191	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2096425	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2186212	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2490162	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7760095	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7760648	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7768096	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9367335	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9369820	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9381702	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9381703	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9395415	0.91[EUR][1000 genomes];0.88[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	nsv1033151	chr6:48067287-48797029	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv538217	chr6:48067287-48797029	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv949690	chr6:48595821-49289855	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr6:48786200-48796000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:48793200-48795200	Active TSS	A549	lung
3	chr6:48793400-48795600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:48793400-48795800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:48793600-48795800	Enhancers	NHDF-Ad	bronchial
6	chr6:48794200-48795400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:48794200-48797000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:48794400-48795200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr6:48794400-48795800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:48794400-48795800	Active TSS	HSMMtube	muscle
11	chr6:48794600-48795200	Active TSS	NHEK	skin
12	chr6:48794600-48795400	Active TSS	Hela-S3	cervix
13	chr6:48794600-48795400	Active TSS	HSMM	muscle
14	chr6:48794600-48796600	Enhancers	HMEC	breast
15	chr6:48794800-48795200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:48794800-48795200	Weak transcription	Stomach Mucosa	stomach
17	chr6:48794800-48795400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:48794800-48795400	Flanking Active TSS	Osteobl	bone
19	chr6:48795000-48795200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:48795000-48795400	Active TSS	Muscle Satellite Cultured Cells	--
21	chr6:48795000-48795400	Enhancers	Aorta	Aorta
22	chr6:48795000-48795400	Flanking Active TSS	NH-A	brain
23	chr6:48795000-48795400	Enhancers	NHLF	lung
24	chr6:48795000-48795800	Enhancers	HUVEC	blood vessel
25	chr6:48795000-48797000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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