Variant report

Variant	rs7957038
Chromosome Location	chr12:9148247-9148248
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12304948	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs16917969	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs16918152	1.00[MEX][hapmap]
rs1805713	1.00[CEU][hapmap]
rs3026250	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs41393747	1.00[MEX][hapmap]
rs7980288	1.00[MEX][hapmap]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7957038	AICDA	cis	lymphoblastoid	seeQTL

Chromatin state (count:30 , 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	chr12:9142800-9149000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr12:9144800-9148600	Weak transcription	GM12878-XiMat	blood
6	chr12:9145000-9149400	Weak transcription	Adipose Nuclei	Adipose
7	chr12:9145600-9148600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr12:9145800-9149200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:9146400-9161200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:9146800-9149400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:9147200-9150200	Enhancers	HUVEC	blood vessel
12	chr12:9147200-9150600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr12:9147400-9150800	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr12:9147400-9151000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:9147600-9148800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:9147600-9149000	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
17	chr12:9147600-9150600	Enhancers	Placenta	Placenta
18	chr12:9147800-9148600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:9147800-9149800	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr12:9148000-9148600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:9148000-9151000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:9148200-9148600	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr12:9148200-9148600	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr12:9148200-9149000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:9148200-9149200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr12:9148200-9149400	Enhancers	Primary T cells from cord blood	blood
27	chr12:9148200-9150200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr12:9148200-9151200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr12:9148200-9152800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:9148200-9152800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood

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