Variant report

Variant	rs12991615
Chromosome Location	chr2:183488313-183488314
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10189496	0.85[ASN][1000 genomes]
rs10204014	0.85[ASN][1000 genomes]
rs10497610	0.86[AMR][1000 genomes]
rs12693315	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12693316	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12693317	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12693318	0.86[AMR][1000 genomes]
rs12990399	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13023449	1.00[ASN][1000 genomes]
rs13382205	0.86[AMR][1000 genomes]
rs13389338	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13389590	0.86[AMR][1000 genomes]
rs13402255	0.85[ASN][1000 genomes]
rs13416838	0.86[AMR][1000 genomes]
rs13419447	0.86[AMR][1000 genomes]
rs13419727	0.86[AMR][1000 genomes]
rs13420165	0.83[AMR][1000 genomes]
rs13423751	0.86[AMR][1000 genomes]
rs13426633	0.86[AMR][1000 genomes]
rs13432896	0.86[AMR][1000 genomes]
rs16823445	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823448	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823449	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16823467	1.00[ASN][1000 genomes]
rs34984487	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35102928	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35615098	0.82[AMR][1000 genomes]
rs35750735	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71427857	1.00[ASN][1000 genomes]
rs7577744	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv2830429	chr2:183300759-183545378	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv875480	chr2:183442443-183489249	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv1837855	chr2:183452578-183499313	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv999603	chr2:183465151-183551522	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv962120	chr2:183486499-183495489	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183459600-183493800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:183484200-183490200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:183486000-183495800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:183486200-183495600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:183486800-183490400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:183486800-183490400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:183487000-183493600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:183487200-183490000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:183487200-183490200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:183487400-183490200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:183487600-183490000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:183488000-183490000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links