Variant report

Variant	rs12369331
Chromosome Location	chr12:122420308-122420309
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122419365..122421513-chr12:122466163..122468621,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10840630	1.00[ASN][1000 genomes]
rs10840631	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840632	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840633	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840637	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10840640	0.82[AMR][1000 genomes]
rs11043225	1.00[ASN][1000 genomes]
rs11043233	1.00[ASN][1000 genomes]
rs11043244	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11043246	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043251	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043271	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043278	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043280	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043288	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1154514	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612028	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1169070	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1169071	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12809676	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12822775	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12823194	1.00[ASN][1000 genomes]
rs12824593	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12825161	1.00[ASN][1000 genomes]
rs1720033	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1720037	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2167067	1.00[ASN][1000 genomes]
rs34159444	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34906460	1.00[ASN][1000 genomes]
rs35244551	0.81[AMR][1000 genomes]
rs66751701	1.00[ASN][1000 genomes]
rs7132055	1.00[ASN][1000 genomes]
rs73217776	1.00[ASN][1000 genomes]
rs9739381	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12369331	BCL7A	cis	Muscle Skeletal	GTEx

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122394000-122429800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:122396600-122439200	Weak transcription	Brain Anterior Caudate	brain
3	chr12:122409800-122427200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:122409800-122428400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:122409800-122428400	Weak transcription	NHEK	skin
6	chr12:122410000-122428600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:122412800-122430600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr12:122413200-122428800	Weak transcription	HSMMtube	muscle
9	chr12:122415200-122434800	Weak transcription	Pancreas	Pancrea
10	chr12:122415400-122428400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:122417000-122422800	Enhancers	Fetal Thymus	thymus
12	chr12:122418200-122422800	Enhancers	Primary B cells from cord blood	blood
13	chr12:122418400-122427000	Weak transcription	Fetal Stomach	stomach
14	chr12:122418600-122423000	Enhancers	Primary B cells from peripheral blood	blood
15	chr12:122418800-122420800	Weak transcription	Thymus	Thymus
16	chr12:122418800-122421400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr12:122418800-122437600	Weak transcription	Spleen	Spleen
18	chr12:122419000-122421000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:122419000-122427200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:122419400-122421000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:122419600-122420600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr12:122419800-122420800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:122419800-122420800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr12:122419800-122421200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr12:122419800-122429800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:122420200-122421200	Weak transcription	GM12878-XiMat	blood

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