Variant report

Variant	rs12304948
Chromosome Location	chr12:9153374-9153375
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs16917969	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs16918152	1.00[MEX][hapmap]
rs1805699	1.00[EUR][1000 genomes]
rs1805713	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3026250	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs41393747	1.00[MEX][hapmap]
rs55770136	1.00[EUR][1000 genomes]
rs60862093	1.00[EUR][1000 genomes]
rs6487550	1.00[EUR][1000 genomes]
rs7133355	1.00[EUR][1000 genomes]
rs7957038	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs7968986	1.00[EUR][1000 genomes]
rs7980288	1.00[MEX][hapmap]

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	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
4	nsv521482	chr12:9153146-9153932	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 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	chr12:9149400-9155800	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr12:9149600-9155800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:9149600-9161000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:9150000-9160800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:9150000-9161000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:9150000-9162000	Weak transcription	Adipose Nuclei	Adipose
11	chr12:9150000-9164000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:9150200-9154000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr12:9151200-9155000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr12:9151600-9155800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:9152000-9153600	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr12:9152000-9155800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr12:9152200-9154000	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr12:9152200-9154400	Enhancers	Primary T cells from cord blood	blood
19	chr12:9152400-9154000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:9152400-9167600	Weak transcription	Left Ventricle	heart
21	chr12:9152800-9153800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:9152800-9155800	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr12:9153000-9154400	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:9153200-9153800	Weak transcription	Primary T cells fromperipheralblood	blood

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