Variant report

Variant	rs2416791
Chromosome Location	chr12:11701488-11701489
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10772486	0.94[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11054341	0.84[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs12582151	0.88[CEU][hapmap];0.94[CHB][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17817352	0.89[ASN][1000 genomes]
rs2416792	0.98[ASN][1000 genomes]
rs4763703	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4763705	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488425	0.92[ASN][1000 genomes]
rs6488426	0.93[ASN][1000 genomes]
rs6488427	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6488428	0.91[ASN][1000 genomes]
rs74060996	0.86[ASN][1000 genomes]
rs7956437	0.94[CHB][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs7960374	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7967647	0.86[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	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
3	nsv428272	chr12:11069845-11714921	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv469112	chr12:11575570-11711690	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv557573	chr12:11575570-11711690	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11697400-11708600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:11699000-11701800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr12:11699000-11709000	Weak transcription	Fetal Lung	lung
4	chr12:11699200-11701600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:11699400-11707000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr12:11699600-11701600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:11699600-11701800	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr12:11699600-11702600	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr12:11699800-11701600	Enhancers	Primary T cells from cord blood	blood
10	chr12:11700000-11701600	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr12:11700000-11702200	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr12:11700800-11701600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr12:11700800-11707000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr12:11701200-11706600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr12:11701400-11701600	Enhancers	H9 Cell Line	embryonic stem cell

Quick Search:

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

what's new

Quick links