Variant report

Variant	rs12031186
Chromosome Location	chr1:79727478-79727479
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10158555	1.00[ASN][1000 genomes]
rs10489649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874029	1.00[ASN][1000 genomes]
rs11162657	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12024442	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12024774	1.00[ASN][1000 genomes]
rs12024949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12025007	0.94[ASN][1000 genomes]
rs12025109	1.00[ASN][1000 genomes]
rs12025146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12025643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12026006	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12026857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12026909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12026964	0.91[ASN][1000 genomes]
rs12026969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12027492	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12027821	1.00[ASN][1000 genomes]
rs12028115	0.94[ASN][1000 genomes]
rs12028685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12032517	1.00[ASN][1000 genomes]
rs12033889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12034005	1.00[ASN][1000 genomes]
rs12035431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12036705	1.00[ASN][1000 genomes]
rs12038491	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12039243	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12039488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12039920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12040033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12044503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12046684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12046976	0.94[ASN][1000 genomes]
rs12048398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12049507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12077125	1.00[ASN][1000 genomes]
rs12088382	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1331715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1412140	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28370400	1.00[ASN][1000 genomes]
rs5003964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72941396	0.94[ASN][1000 genomes]
rs72943004	0.83[ASN][1000 genomes]
rs72943084	1.00[ASN][1000 genomes]
rs72943085	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491784	chr1:79146141-79853482	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv830326	chr1:79573379-79735667	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv871182	chr1:79614989-79822735	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv999471	chr1:79650363-79774433	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv870657	chr1:79701220-79890774	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79724600-79728000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr1:79724800-79728000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:79725200-79728000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr1:79725600-79728000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr1:79725600-79728200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr1:79725800-79728000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr1:79725800-79728000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:79726000-79728600	Weak transcription	Fetal Stomach	stomach
9	chr1:79726000-79730000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:79726200-79729000	Enhancers	H9 Cell Line	embryonic stem cell
11	chr1:79726600-79729600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:79727200-79727600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr1:79727200-79727800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr1:79727400-79728800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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