Variant report

Variant	rs3747891
Chromosome Location	chr12:40718883-40718884
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	12:40716064-40722905..12:40793507-40812339	GM12878	blood:
2	chr12:40718883..40719693-chr12:40958776..40959283,2	MCF-7	breast:
3	chr12:40718708..40719694-chr12:40730425..40731019,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205592	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10459264	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10784485	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10784497	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10878299	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10878302	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10878336	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10878386	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11175793	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11175852	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11175902	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11175913	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11175941	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11175959	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11175963	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11175964	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11176022	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176195	0.81[AMR][1000 genomes]
rs11176261	0.81[AMR][1000 genomes]
rs11564183	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11836288	0.81[AMR][1000 genomes]
rs12302298	0.88[AFR][1000 genomes]
rs12314692	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12316801	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12426498	0.81[AMR][1000 genomes]
rs12426891	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17490817	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28365224	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4318033	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56325408	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7133914	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72546323	0.84[AFR][1000 genomes]
rs7308720	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73108329	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73108339	0.86[EUR][1000 genomes]
rs73108368	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044685	chr12:40574460-40771612	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv832377	chr12:40704881-40855223	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40640600-40727400	Weak transcription	Spleen	Spleen
2	chr12:40640600-40768200	Weak transcription	Pancreas	Pancrea
3	chr12:40656800-40746400	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr12:40674400-40760400	Weak transcription	Lung	lung
5	chr12:40681200-40763000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:40684000-40722600	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:40684000-40722600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr12:40684000-40725000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:40687200-40765000	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr12:40695800-40723600	Weak transcription	Brain Angular Gyrus	brain
11	chr12:40699600-40721800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:40704400-40723800	Weak transcription	Brain Anterior Caudate	brain
13	chr12:40705600-40722400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr12:40706800-40722800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:40707000-40719000	Weak transcription	A549	lung
16	chr12:40707800-40724400	Strong transcription	Primary B cells from cord blood	blood
17	chr12:40709600-40721400	Weak transcription	Ovary	ovary
18	chr12:40709800-40721600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr12:40709800-40722400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:40710000-40721200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:40712000-40736600	Weak transcription	Left Ventricle	heart
22	chr12:40712000-40743400	Weak transcription	Aorta	Aorta
23	chr12:40712400-40721800	Weak transcription	Adipose Nuclei	Adipose
24	chr12:40714200-40759200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr12:40716200-40722400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:40716800-40761600	Weak transcription	Fetal Kidney	kidney
27	chr12:40717000-40720400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr12:40717800-40724600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr12:40718000-40721800	Weak transcription	Liver	Liver

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