Variant report

Variant	rs6427143
Chromosome Location	chr1:168687915-168687916
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10918961	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10918964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12073060	1.00[AMR][1000 genomes]
rs12076001	1.00[AMR][1000 genomes]
rs74122770	1.00[AMR][1000 genomes]
rs74122771	1.00[AMR][1000 genomes]
rs7525963	1.00[AMR][1000 genomes]
rs7532043	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7548427	1.00[AMR][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	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv831836	chr1:168538779-168716956	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv831847	chr1:168669877-168850129	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168678200-168695600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:168679200-168694600	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:168679600-168694600	Weak transcription	Fetal Stomach	stomach
4	chr1:168679800-168694600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:168680200-168694800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:168681400-168692400	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:168683600-168688000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:168683600-168688200	Weak transcription	Hela-S3	cervix
9	chr1:168683600-168696000	Weak transcription	Left Ventricle	heart
10	chr1:168686400-168688000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:168687000-168689000	Enhancers	Pancreas	Pancrea
12	chr1:168687000-168689600	Strong transcription	Adipose Nuclei	Adipose
13	chr1:168687200-168688200	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr1:168687200-168688400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:168687200-168689600	Enhancers	HMEC	breast
16	chr1:168687400-168688000	Enhancers	Placenta	Placenta
17	chr1:168687400-168688000	Enhancers	Right Atrium	heart
18	chr1:168687400-168688000	Enhancers	HSMM	muscle
19	chr1:168687600-168688200	Enhancers	GM12878-XiMat	blood
20	chr1:168687600-168689600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:168687600-168692200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:168687600-168695000	Weak transcription	Fetal Lung	lung
23	chr1:168687800-168688200	Flanking Active TSS	Fetal Heart	heart
24	chr1:168687800-168688400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:168687800-168689400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:168687800-168689400	Enhancers	NHEK	skin

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