Variant report

Variant	rs7838641
Chromosome Location	chr8:48988537-48988538
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11988128	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11995532	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4339672	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4389967	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4493931	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7006151	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7814219	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2758156	chr8:48788293-49008014	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv2759611	chr8:48788293-49008014	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv427820	chr8:48788293-49008014	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv890850	chr8:48954143-49018790	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv890851	chr8:48954143-49031082	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv1793797	chr8:48955683-48992093	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv890852	chr8:48964607-49022082	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv890853	chr8:48964607-49031082	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv1025169	chr8:48965133-49024711	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv1020050	chr8:48965133-49028634	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv1033298	chr8:48965133-49048832	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48975200-48988800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr8:48975800-48990400	Weak transcription	Pancreas	Pancrea
3	chr8:48986000-48988800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:48986400-48989400	Enhancers	HMEC	breast
5	chr8:48986600-48988600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:48986600-48989200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:48986800-48988800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:48986800-48989200	Enhancers	NHEK	skin
9	chr8:48986800-48989400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:48987800-48988800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:48987800-48988800	Enhancers	HepG2	liver
12	chr8:48987800-48989000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:48987800-48989200	Enhancers	A549	lung
14	chr8:48987800-48989400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr8:48988000-48989000	Weak transcription	Hela-S3	cervix
16	chr8:48988200-48988800	Enhancers	HSMM	muscle
17	chr8:48988200-48989200	Enhancers	Osteobl	bone
18	chr8:48988400-48988600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:48988400-48989000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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