Variant report

Variant	rs606012
Chromosome Location	chr1:168666890-168666891
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs494317	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs520084	0.97[ASN][1000 genomes]
rs523582	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs523587	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs524705	0.81[ASN][1000 genomes]
rs530022	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs580360	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs586318	0.80[ASN][1000 genomes]
rs597584	0.80[ASN][1000 genomes]
rs598416	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59849641	0.96[ASN][1000 genomes]
rs603259	0.81[ASN][1000 genomes]
rs604627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs630159	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs631451	0.80[ASN][1000 genomes]
rs664879	0.80[ASN][1000 genomes]
rs680531	0.81[ASN][1000 genomes]
rs681445	0.81[ASN][1000 genomes]
rs682367	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1007846	chr1:168449940-168687265	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168659400-168669400	Weak transcription	Small Intestine	intestine
2	chr1:168663200-168669600	Weak transcription	Liver	Liver
3	chr1:168664000-168669400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:168664000-168669600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:168664600-168667600	Enhancers	Fetal Intestine Small	intestine
6	chr1:168665200-168667000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:168665400-168669800	Weak transcription	Adipose Nuclei	Adipose
8	chr1:168665400-168669800	Weak transcription	Stomach Mucosa	stomach
9	chr1:168665600-168667200	Weak transcription	Pancreas	Pancrea
10	chr1:168665600-168668600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:168665600-168673200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:168665600-168677600	Weak transcription	Fetal Heart	heart
13	chr1:168665800-168669600	Weak transcription	HepG2	liver
14	chr1:168666000-168679000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr1:168666200-168675600	Weak transcription	Fetal Stomach	stomach
16	chr1:168666600-168667200	Enhancers	Fetal Kidney	kidney
17	chr1:168666600-168667800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:168666800-168667600	Enhancers	Fetal Intestine Large	intestine

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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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