Variant report

Variant	rs28769384
Chromosome Location	chr12:9138523-9138524
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1049948	1.00[ASN][1000 genomes]
rs11048354	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12297905	1.00[ASN][1000 genomes]
rs12313493	1.00[ASN][1000 genomes]
rs12313494	1.00[ASN][1000 genomes]
rs12314142	1.00[ASN][1000 genomes]
rs12314310	1.00[ASN][1000 genomes]
rs12317136	1.00[ASN][1000 genomes]
rs16917943	1.00[ASN][1000 genomes]
rs16917957	1.00[ASN][1000 genomes]
rs1805696	1.00[ASN][1000 genomes]
rs1805750	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3026237	1.00[ASN][1000 genomes]
rs3026240	1.00[ASN][1000 genomes]
rs4882972	1.00[ASN][1000 genomes]
rs4882973	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4882974	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4883207	1.00[ASN][1000 genomes]
rs4883210	1.00[ASN][1000 genomes]
rs56759930	1.00[ASN][1000 genomes]
rs7296548	1.00[ASN][1000 genomes]
rs7310680	1.00[ASN][1000 genomes]
rs7311244	1.00[ASN][1000 genomes]
rs7312460	1.00[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	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	nsv819596	chr12:9113514-9141537	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9133200-9139800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:9133600-9140600	Weak transcription	Spleen	Spleen
3	chr12:9133800-9139000	Weak transcription	Primary T cells from cord blood	blood
4	chr12:9133800-9164600	Weak transcription	Psoas Muscle	Psoas
5	chr12:9133800-9170200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr12:9135800-9141800	Weak transcription	Primary B cells from cord blood	blood
7	chr12:9137600-9139800	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr12:9137600-9139800	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr12:9137600-9142000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr12:9137800-9141800	Enhancers	Primary T cells fromperipheralblood	blood
11	chr12:9137800-9141800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:9137800-9142200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr12:9138000-9140200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:9138000-9142200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr12:9138000-9143000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr12:9138400-9138600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:9138400-9138600	Enhancers	Lung	lung
18	chr12:9138400-9139800	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr12:9138400-9140200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:9138400-9140200	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr12:9138400-9142200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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