Variant report

Variant	rs12122973
Chromosome Location	chr1:62642252-62642253
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12131839	1.00[ASN][1000 genomes]
rs12136917	1.00[ASN][1000 genomes]
rs12141623	1.00[ASN][1000 genomes]
rs2457828	1.00[ASN][1000 genomes]
rs2481696	1.00[ASN][1000 genomes]
rs28560127	0.88[AMR][1000 genomes]
rs72679720	1.00[ASN][1000 genomes]
rs72679729	1.00[ASN][1000 genomes]
rs72679734	1.00[ASN][1000 genomes]
rs7412990	1.00[ASN][1000 genomes]
rs870906	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1001667	chr1:62407786-62649838	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv461650	chr1:62542717-62657530	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv546417	chr1:62542717-62657530	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1012683	chr1:62587852-62643998	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62608400-62643600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:62627000-62642400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr1:62636200-62649000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:62638200-62649000	Weak transcription	Fetal Intestine Small	intestine
5	chr1:62638600-62642400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:62640600-62651200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr1:62640800-62643400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:62641200-62643800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:62641400-62642400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:62641400-62642400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:62641400-62642600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:62641400-62642600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:62641400-62643400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:62641600-62642600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:62641600-62645800	Weak transcription	Fetal Lung	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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