Variant report

Variant	rs324018
Chromosome Location	chr12:57487729-57487730
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57487207..57489372-chr12:57634263..57636332,2	MCF-7	breast:
2	chr12:57462907..57463852-chr12:57486740..57488360,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185633	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs324019	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4559	0.80[ASN][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	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv428590	chr12:57329214-57527358	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv832428	chr12:57340609-57535694	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs324018	STAT6	cis	multi-tissue	Pritchard
rs324018	STAT6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57483800-57492000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:57484000-57498200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:57484200-57488400	Genic enhancers	Spleen	Spleen
4	chr12:57484400-57487800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
5	chr12:57484400-57487800	Transcr. at gene 5' and 3'	NHLF	lung
6	chr12:57484400-57490800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:57484400-57491000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:57484600-57488800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:57484600-57488800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:57484600-57489000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:57484800-57488400	Genic enhancers	Fetal Lung	lung
12	chr12:57484800-57488400	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
13	chr12:57484800-57488600	Genic enhancers	Right Ventricle	heart
14	chr12:57484800-57488800	Genic enhancers	Placenta	Placenta
15	chr12:57484800-57489000	Genic enhancers	Placenta Amnion	Placenta Amnion
16	chr12:57484800-57489400	Genic enhancers	Primary T cells from cord blood	blood
17	chr12:57484800-57490800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:57485000-57488600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
19	chr12:57485000-57489000	Genic enhancers	Liver	Liver
20	chr12:57485000-57489400	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:57485000-57490800	Genic enhancers	Fetal Thymus	thymus
22	chr12:57485000-57491000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr12:57485000-57491000	Genic enhancers	Fetal Muscle Trunk	muscle
24	chr12:57485000-57491400	Strong transcription	Aorta	Aorta
25	chr12:57485200-57488400	Genic enhancers	Brain Inferior Temporal Lobe	brain
26	chr12:57485200-57488400	Weak transcription	Pancreas	Pancrea
27	chr12:57485200-57488600	Genic enhancers	Colonic Mucosa	Colon
28	chr12:57485200-57488800	Genic enhancers	Fetal Muscle Leg	muscle
29	chr12:57485200-57488800	Genic enhancers	Fetal Stomach	stomach
30	chr12:57485200-57489800	Strong transcription	HepG2	liver
31	chr12:57485200-57490000	Genic enhancers	NH-A	brain
32	chr12:57485400-57488600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:57485400-57488800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr12:57485400-57491000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:57485400-57491200	Strong transcription	Fetal Intestine Large	intestine
36	chr12:57485600-57489000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:57485600-57490600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
38	chr12:57485800-57487800	Genic enhancers	Brain Hippocampus Middle	brain
39	chr12:57485800-57488400	Genic enhancers	Fetal Brain Female	brain
40	chr12:57485800-57488800	Genic enhancers	Adipose Nuclei	Adipose
41	chr12:57485800-57490000	Strong transcription	Gastric	stomach
42	chr12:57486000-57487800	Genic enhancers	Thymus	Thymus
43	chr12:57486000-57489000	Genic enhancers	HSMMtube	muscle
44	chr12:57486000-57489800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:57486200-57487800	Strong transcription	Psoas Muscle	Psoas
46	chr12:57486200-57488400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr12:57486200-57488600	Genic enhancers	Brain Angular Gyrus	brain
48	chr12:57486200-57503600	Weak transcription	Fetal Brain Male	brain
49	chr12:57486400-57487800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
50	chr12:57486400-57488200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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