Variant report

Variant	rs12326891
Chromosome Location	chr18:6753738-6753739
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11081264	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11660237	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11663135	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11663719	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12150787	0.95[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12455302	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13381524	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28463953	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4078165	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4132206	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4797256	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4798487	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4798490	0.80[EUR][1000 genomes]
rs55866900	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56061391	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62081458	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7237200	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7505315	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7505383	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7505419	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059678	chr18:6155114-6838290	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv916883	chr18:6299209-7244642	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1055148	chr18:6527292-6790869	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv543629	chr18:6527292-6790869	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3529901	chr18:6537233-6851509	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3529902	chr18:6537233-6851509	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1063762	chr18:6542534-7382339	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv543630	chr18:6542534-7382339	Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv1057885	chr18:6598684-6754548	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv1060757	chr18:6682974-7051982	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv543631	chr18:6682974-7051982	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	nsv1064175	chr18:6740267-7384528	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	esv34611	chr18:6741970-6838290	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12326891	EMILIN2	cis	parietal	SCAN
rs12326891	RP11-91I8.3	cis	Muscle Skeletal	GTEx
rs12326891	ARHGAP28	cis	Thyroid	GTEx

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:6736000-6761400	Weak transcription	Spleen	Spleen
2	chr18:6741600-6761400	Weak transcription	Pancreas	Pancrea
3	chr18:6749000-6756600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr18:6749000-6757800	Weak transcription	Fetal Heart	heart
5	chr18:6750800-6757800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr18:6751200-6754000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr18:6751200-6754600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr18:6751200-6756600	Weak transcription	Psoas Muscle	Psoas
9	chr18:6751800-6757800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr18:6751800-6758200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr18:6752400-6759600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr18:6752400-6761000	Weak transcription	Placenta	Placenta
13	chr18:6752600-6754800	Weak transcription	HUVEC	blood vessel
14	chr18:6752600-6756400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr18:6752600-6757800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr18:6752800-6753800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr18:6752800-6754600	Weak transcription	Fetal Stomach	stomach
18	chr18:6752800-6755000	Weak transcription	Left Ventricle	heart
19	chr18:6752800-6756600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr18:6752800-6757800	Weak transcription	Adipose Nuclei	Adipose
21	chr18:6752800-6757800	Weak transcription	Fetal Muscle Leg	muscle
22	chr18:6752800-6757800	Weak transcription	Ovary	ovary
23	chr18:6752800-6773800	Weak transcription	Right Atrium	heart
24	chr18:6753000-6754400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr18:6753000-6754600	Weak transcription	NHDF-Ad	bronchial
26	chr18:6753000-6755000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr18:6753000-6755000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr18:6753000-6756800	Enhancers	Fetal Lung	lung
29	chr18:6753000-6757800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr18:6753200-6754000	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr18:6753200-6754400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr18:6753200-6754400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr18:6753200-6754400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr18:6753200-6756200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr18:6753200-6757200	Weak transcription	HSMM	muscle
36	chr18:6753200-6757600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr18:6753200-6757600	Weak transcription	HSMMtube	muscle
38	chr18:6753200-6757600	Weak transcription	NH-A	brain
39	chr18:6753200-6758000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr18:6753200-6758200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr18:6753200-6759800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr18:6753200-6763600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr18:6753400-6753800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr18:6753400-6754800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr18:6753400-6757400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr18:6753600-6753800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr18:6753600-6754600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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