Variant report

Variant	rs4781231
Chromosome Location	chr16:12510379-12510380
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11075066	0.85[ASN][1000 genomes]
rs11075072	0.86[EUR][1000 genomes]
rs11647957	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11649076	0.82[EUR][1000 genomes]
rs12051092	0.82[EUR][1000 genomes]
rs12448347	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12926226	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12927878	0.81[ASN][1000 genomes]
rs12931371	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2098761	0.80[ASN][1000 genomes]
rs34920830	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs36011100	0.84[EUR][1000 genomes]
rs3851015	0.81[ASN][1000 genomes]
rs4780432	0.81[ASN][1000 genomes]
rs4780437	0.82[EUR][1000 genomes]
rs4781234	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4781236	0.84[EUR][1000 genomes]
rs4781239	0.83[EUR][1000 genomes]
rs62028398	0.81[EUR][1000 genomes]
rs6498294	0.82[ASN][1000 genomes]
rs6498296	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv457411	chr16:12363304-12520199	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv571462	chr16:12363304-12520199	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv571463	chr16:12367791-12783535	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1045385	chr16:12376389-12517006	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv542748	chr16:12376389-12517006	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1736	chr16:12477807-12522707	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1046002	chr16:12482003-12510643	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1051242	chr16:12482972-12897243	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS 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 miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv542749	chr16:12482972-12897243	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4781231	EMP2	cis	parietal	SCAN

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12476000-12531600	Weak transcription	Right Ventricle	heart
2	chr16:12482400-12510400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr16:12497800-12519600	Weak transcription	Brain Anterior Caudate	brain
4	chr16:12497800-12539800	Weak transcription	Left Ventricle	heart
5	chr16:12498000-12510800	Weak transcription	Spleen	Spleen
6	chr16:12498000-12511600	Weak transcription	Fetal Muscle Leg	muscle
7	chr16:12498000-12515400	Weak transcription	Pancreas	Pancrea
8	chr16:12498000-12518600	Weak transcription	Fetal Intestine Small	intestine
9	chr16:12498000-12541200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr16:12498200-12510600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr16:12498200-12513200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr16:12498200-12517200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr16:12498400-12513800	Weak transcription	Aorta	Aorta
14	chr16:12498400-12514200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr16:12498400-12514800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr16:12498400-12516200	Weak transcription	Fetal Stomach	stomach
17	chr16:12498400-12518800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr16:12498400-12523200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr16:12498400-12523600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr16:12498400-12523800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr16:12498400-12564600	Weak transcription	Esophagus	oesophagus
22	chr16:12498800-12516600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr16:12498800-12523800	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr16:12499200-12511800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr16:12499200-12518200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr16:12499400-12512800	Weak transcription	Brain Substantia Nigra	brain
27	chr16:12499400-12517200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr16:12499400-12527000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr16:12499600-12512800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr16:12501000-12510400	Weak transcription	Lung	lung
31	chr16:12501800-12514000	Weak transcription	NHEK	skin
32	chr16:12501800-12514200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr16:12501800-12515600	Weak transcription	NHDF-Ad	bronchial
34	chr16:12501800-12519600	Weak transcription	Brain Hippocampus Middle	brain
35	chr16:12502000-12510400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr16:12502000-12516000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr16:12502200-12512800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr16:12502200-12515400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr16:12506200-12529600	Weak transcription	Gastric	stomach
40	chr16:12506600-12513600	Weak transcription	Adipose Nuclei	Adipose
41	chr16:12507000-12514400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr16:12507400-12515400	Weak transcription	HSMMtube	muscle
43	chr16:12507600-12519200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr16:12507600-12527600	Weak transcription	GM12878-XiMat	blood
45	chr16:12507800-12515600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr16:12507800-12519000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr16:12508800-12523200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr16:12509000-12511200	Strong transcription	Primary B cells from peripheral blood	blood
49	chr16:12509000-12516800	Enhancers	Placenta	Placenta
50	chr16:12509600-12511200	Enhancers	Primary monocytes fromperipheralblood	blood

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