Variant report

Variant	rs11183788
Chromosome Location	chr12:47588859-47588860
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:47587174..47588908-chr12:47615802..47618162,2	K562	blood:
2	chr12:47583159..47586380-chr12:47586604..47590176,3	MCF-7	breast:
3	chr12:47572847..47576069-chr12:47588827..47592378,3	K562	blood:
4	chr12:47588311..47590826-chr12:47591836..47593826,2	K562	blood:

Variant related genes	Relation type
ENSG00000179715	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10881075	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10881078	0.81[ASN][1000 genomes]
rs11183785	1.00[ASN][1000 genomes]
rs11183786	1.00[ASN][1000 genomes]
rs11183787	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183789	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183790	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11183791	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11183794	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11183797	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11183807	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs832732	0.83[ASN][1000 genomes]
rs832734	0.86[ASN][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	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv832399	chr12:47502910-47689601	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47581800-47594000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr12:47583200-47589200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:47583200-47628600	Weak transcription	Aorta	Aorta
4	chr12:47584000-47600600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:47584200-47589600	Enhancers	Primary B cells from peripheral blood	blood
6	chr12:47584800-47597200	Weak transcription	Primary B cells from cord blood	blood
7	chr12:47584800-47605800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:47585400-47590200	Enhancers	A549	lung
9	chr12:47585400-47592800	Weak transcription	NHEK	skin
10	chr12:47585400-47600400	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr12:47585600-47599800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr12:47585800-47601000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:47586000-47590400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr12:47586200-47590200	Enhancers	Primary T cells from cord blood	blood
15	chr12:47586400-47589000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr12:47586400-47589200	Enhancers	Primary T cells fromperipheralblood	blood
17	chr12:47586600-47589400	Enhancers	Colon Smooth Muscle	Colon
18	chr12:47587400-47590200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:47587600-47590200	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr12:47587800-47590400	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr12:47587800-47590400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr12:47588000-47589400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:47588000-47589400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:47588000-47592000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr12:47588200-47599600	Weak transcription	Fetal Thymus	thymus
26	chr12:47588400-47589800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
27	chr12:47588600-47589200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr12:47588600-47589400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr12:47588600-47597800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:47588600-47599800	Weak transcription	Spleen	Spleen
31	chr12:47588800-47589200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:47588800-47589400	Enhancers	K562	blood

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