Variant report

Variant	rs11516175
Chromosome Location	chr12:123934296-123934297
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123933826..123935553-chr12:123942012..123946066,3	K562	blood:
2	chr12:123933826..123935553-chr12:123942012..123944583,2	K562	blood:
3	chr12:123933115..123935962-chr12:123941245..123944005,2	MCF-7	breast:
4	chr12:123933162..123935586-chr12:123941113..123943994,3	MCF-7	breast:
5	chr12:123918432..123921016-chr12:123934034..123936294,2	K562	blood:

Variant related genes	Relation type
ENSG00000184209	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11497310	0.92[EUR][1000 genomes]
rs11507743	0.99[EUR][1000 genomes]
rs11516174	0.97[EUR][1000 genomes]
rs11516178	0.88[EUR][1000 genomes]
rs11522341	0.92[EUR][1000 genomes]
rs11522342	0.92[EUR][1000 genomes]
rs11522343	0.93[EUR][1000 genomes]
rs11523309	0.90[EUR][1000 genomes]
rs11535679	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13303358	0.87[EUR][1000 genomes]
rs28493578	0.90[EUR][1000 genomes]
rs28703907	0.92[EUR][1000 genomes]
rs28728075	0.87[EUR][1000 genomes]
rs28781570	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28894691	0.84[EUR][1000 genomes]
rs61953496	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7957839	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9697330	0.89[EUR][1000 genomes]
rs9697415	0.92[EUR][1000 genomes]
rs9697423	0.92[EUR][1000 genomes]
rs9723026	0.87[EUR][1000 genomes]
rs9723244	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9777715	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9777830	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1035223	chr12:123795559-123991706	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1822004	chr12:123919287-124013451	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr12:123930800-123935600	Weak transcription	Fetal Intestine Small	intestine
2	chr12:123933000-123934800	Enhancers	Hela-S3	cervix
3	chr12:123933200-123934400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr12:123933400-123934400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:123933400-123934400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:123933400-123934600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr12:123933400-123935200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr12:123933400-123942200	Weak transcription	Thymus	Thymus
9	chr12:123933600-123934400	Enhancers	Primary hematopoietic stem cells	blood
10	chr12:123933600-123934400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr12:123933800-123934400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:123933800-123934400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:123933800-123934800	Enhancers	K562	blood
14	chr12:123934000-123934600	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr12:123934200-123934400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:123934200-123934800	Enhancers	HepG2	liver
17	chr12:123934200-123936000	Weak transcription	Placenta	Placenta
18	chr12:123934200-123942400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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