Variant report

Variant	rs28478283
Chromosome Location	chr4:86834562-86834563
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10004914	1.00[AMR][1000 genomes]
rs10017673	1.00[AMR][1000 genomes]
rs10018270	1.00[AMR][1000 genomes]
rs10024305	1.00[AMR][1000 genomes]
rs11941635	1.00[AMR][1000 genomes]
rs13110649	1.00[AMR][1000 genomes]
rs189357	1.00[AMR][1000 genomes]
rs28384086	1.00[AMR][1000 genomes]
rs28397866	1.00[AMR][1000 genomes]
rs28413133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28421282	1.00[AMR][1000 genomes]
rs28481580	1.00[AMR][1000 genomes]
rs28482943	1.00[AMR][1000 genomes]
rs28503231	1.00[AMR][1000 genomes]
rs28510473	1.00[AMR][1000 genomes]
rs28528165	1.00[AMR][1000 genomes]
rs28582783	1.00[AMR][1000 genomes]
rs28625743	1.00[AMR][1000 genomes]
rs28646131	1.00[AMR][1000 genomes]
rs28655099	1.00[AMR][1000 genomes]
rs28734976	1.00[AMR][1000 genomes]
rs343857	1.00[AMR][1000 genomes]
rs343858	1.00[AMR][1000 genomes]
rs343861	1.00[AMR][1000 genomes]
rs343862	1.00[AMR][1000 genomes]
rs343863	1.00[AMR][1000 genomes]
rs343865	1.00[AMR][1000 genomes]
rs4693125	1.00[AMR][1000 genomes]
rs6531860	1.00[AMR][1000 genomes]
rs7674538	1.00[AMR][1000 genomes]
rs7682809	1.00[AMR][1000 genomes]
rs9997347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9999508	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830000	chr4:86745341-86909059	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv879519	chr4:86786204-86871282	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv2753470	chr4:86804078-86844350	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv879520	chr4:86829529-86918232	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86790800-86835400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:86791200-86844400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:86808200-86846000	Weak transcription	HUVEC	blood vessel
4	chr4:86815800-86842800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:86826800-86845400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:86827600-86835400	Weak transcription	Small Intestine	intestine
7	chr4:86827600-86850600	Weak transcription	Spleen	Spleen
8	chr4:86829600-86843800	Weak transcription	Primary B cells from cord blood	blood
9	chr4:86831200-86851000	Weak transcription	Aorta	Aorta
10	chr4:86831600-86834800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr4:86832400-86842800	Weak transcription	Pancreas	Pancrea
12	chr4:86832400-86843800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr4:86834000-86836200	Enhancers	Fetal Intestine Large	intestine
14	chr4:86834200-86835600	Enhancers	Stomach Mucosa	stomach
15	chr4:86834200-86836000	Enhancers	Fetal Intestine Small	intestine
16	chr4:86834200-86836400	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr4:86834400-86834600	Enhancers	A549	lung
18	chr4:86834400-86836000	Enhancers	Fetal Kidney	kidney

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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