Variant report

Variant	rs11048414
Chromosome Location	chr12:9145307-9145308
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1121401	0.87[ASN][1000 genomes]
rs2377676	0.85[ASN][1000 genomes]
rs7132930	0.89[ASN][1000 genomes]
rs7974486	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832327	chr12:9081779-9246220	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	esv2754892	chr12:9136351-9179007	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9133800-9164600	Weak transcription	Psoas Muscle	Psoas
2	chr12:9133800-9170200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr12:9141600-9145600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:9142400-9168000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr12:9142800-9149000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr12:9143000-9146400	Enhancers	Primary hematopoietic stem cells	blood
7	chr12:9143600-9145400	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr12:9143600-9146000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr12:9144000-9145600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:9144600-9145400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr12:9144600-9145400	Enhancers	Placenta	Placenta
12	chr12:9144600-9145400	Enhancers	Fetal Thymus	thymus
13	chr12:9144800-9145600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
14	chr12:9144800-9145800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:9144800-9146000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:9144800-9146800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:9144800-9148600	Weak transcription	GM12878-XiMat	blood
18	chr12:9145000-9145600	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr12:9145000-9146400	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:9145000-9149400	Weak transcription	Adipose Nuclei	Adipose
21	chr12:9145200-9145400	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr12:9145200-9145400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr12:9145200-9145600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr12:9145200-9146200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr12:9145200-9146200	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr12:9145200-9146600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr12:9145200-9147000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr12:9145200-9147200	Weak transcription	HUVEC	blood vessel

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