Variant report

Variant	rs11051552
Chromosome Location	chr12:31890602-31890603
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:31890191..31892449-chr12:31894562..31897405,2	K562	blood:
2	chr12:31889555..31891560-chr12:31894005..31895879,2	MCF-7	breast:
3	chr12:31804590..31806513-chr12:31889274..31891655,2	K562	blood:
4	chr12:31885885..31887666-chr12:31889660..31891228,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12817640	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7298704	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7309371	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7968269	0.92[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv3432694	chr12:31801467-32109828	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv898966	chr12:31810126-31944985	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv898967	chr12:31858031-31899475	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	esv2422415	chr12:31863360-31930722	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv558100	chr12:31866833-32185924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv1045464	chr12:31869888-32183792	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv541447	chr12:31869888-32183792	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
12	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
13	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
14	nsv558101	chr12:31876666-32006563	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
15	nsv1050448	chr12:31877289-31927006	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
16	nsv558102	chr12:31889824-31907409	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11051552	KLHDC5	cis	cerebellum	SCAN
rs11051552	REP15	cis	parietal	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31883000-31896000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:31885400-31893800	Weak transcription	Primary B cells from cord blood	blood
3	chr12:31885800-31900200	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr12:31886000-31890800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:31886400-31899400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:31887200-31893600	Weak transcription	HUVEC	blood vessel
7	chr12:31887400-31891400	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr12:31887400-31893400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:31887400-31893400	Weak transcription	GM12878-XiMat	blood
10	chr12:31887400-31899000	Weak transcription	Lung	lung
11	chr12:31888000-31896800	Enhancers	Fetal Thymus	thymus
12	chr12:31888000-31897400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:31888400-31891000	Enhancers	Primary T cells fromperipheralblood	blood
14	chr12:31889200-31891000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr12:31889200-31891200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:31889200-31892600	Enhancers	K562	blood
17	chr12:31889200-31896600	Enhancers	Thymus	Thymus
18	chr12:31889400-31890800	Enhancers	Dnd41	blood
19	chr12:31889400-31891200	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr12:31889400-31891400	Enhancers	Primary T cells from cord blood	blood
21	chr12:31889400-31891600	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr12:31889400-31892200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:31889400-31905800	Enhancers	Primary B cells from peripheral blood	blood
24	chr12:31889600-31890800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:31889600-31891000	Enhancers	Hela-S3	cervix
26	chr12:31889600-31891600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr12:31889600-31892400	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr12:31889800-31893600	Weak transcription	A549	lung
29	chr12:31890000-31890800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:31890000-31897600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:31890000-31899200	Weak transcription	NHDF-Ad	bronchial
32	chr12:31890000-31899400	Weak transcription	NH-A	brain
33	chr12:31890200-31892400	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr12:31890400-31891400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr12:31890400-31893600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr12:31890400-31893600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:31890400-31899400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:31890600-31891000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:31890600-31892400	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr12:31890600-31893600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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