Variant report

Variant	rs10047511
Chromosome Location	chr12:9150527-9150528
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11047861	1.00[AMR][1000 genomes]
rs11048285	1.00[AMR][1000 genomes]
rs12297064	1.00[AMR][1000 genomes]
rs12308647	1.00[AMR][1000 genomes]
rs12321827	1.00[AMR][1000 genomes]
rs12322201	1.00[AMR][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:25 , 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	chr12:9142400-9168000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr12:9146400-9161200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:9147200-9150600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr12:9147400-9150800	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr12:9147400-9151000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:9147600-9150600	Enhancers	Placenta	Placenta
9	chr12:9148000-9151000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:9148200-9151200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr12:9148200-9152800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr12:9148200-9152800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:9149400-9155800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr12:9149600-9155800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:9149600-9161000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:9150000-9151000	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr12:9150000-9160800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:9150000-9161000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr12:9150000-9162000	Weak transcription	Adipose Nuclei	Adipose
20	chr12:9150000-9164000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:9150200-9152800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr12:9150200-9154000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:9150400-9150600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
24	chr12:9150400-9150800	Enhancers	GM12878-XiMat	blood
25	chr12:9150400-9151600	Weak transcription	Primary T cells from cord blood	blood

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