Variant report

Variant	rs6427500
Chromosome Location	chr1:159934916-159934917
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4378200	0.86[CEU][hapmap];0.94[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4656860	0.86[CEU][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4656861	0.85[CEU][hapmap];0.83[AMR][1000 genomes]
rs4656862	0.85[CEU][hapmap];0.85[AMR][1000 genomes]
rs60647227	0.82[ASN][1000 genomes]
rs67918486	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7541727	0.82[YRI][hapmap];0.83[EUR][1000 genomes];0.82[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	nsv872489	chr1:159844819-159940000	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv548055	chr1:159918418-159940000	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv520773	chr1:159922959-159935569	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr1:159928000-159941800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:159932000-159949800	Weak transcription	Esophagus	oesophagus
3	chr1:159932400-159939600	Weak transcription	Colonic Mucosa	Colon
4	chr1:159932600-159938800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:159932600-159940800	Weak transcription	Gastric	stomach
6	chr1:159932800-159940800	Weak transcription	Fetal Heart	heart
7	chr1:159933200-159947200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:159933400-159939200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr1:159933400-159950600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:159934000-159935200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:159934000-159935200	Enhancers	Fetal Intestine Small	intestine
12	chr1:159934400-159935000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:159934400-159938000	Weak transcription	Stomach Mucosa	stomach
14	chr1:159934800-159935000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:159934800-159935400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:159934800-159935400	Genic enhancers	NHEK	skin
17	chr1:159934800-159938200	Weak transcription	Fetal Intestine Large	intestine
18	chr1:159934800-159939000	Weak transcription	Duodenum Mucosa	Duodenum

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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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