Variant report

Variant	rs12231378
Chromosome Location	chr12:60093791-60093792
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10459250	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10877329	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10877330	0.83[CHB][hapmap]
rs10877332	0.92[CHB][hapmap]
rs10877333	0.92[CHB][hapmap]
rs10877334	0.92[CHB][hapmap]
rs11173115	0.92[CHB][hapmap];0.81[ASN][1000 genomes]
rs11173121	0.92[CHB][hapmap]
rs11173138	0.92[CHB][hapmap]
rs12229478	0.93[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12718000	0.80[YRI][hapmap]
rs17650140	0.92[CHB][hapmap]
rs3847656	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56053489	0.81[ASN][1000 genomes]
rs7971953	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.94[TSI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv899131	chr12:59942122-60124089	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3365928	chr12:60042531-60343212	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv2829972	chr12:60079404-60111653	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv899132	chr12:60087572-60211476	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12231378	ERBB3	cis	cerebellum	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60045800-60099800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:60050800-60098600	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr12:60069600-60131400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr12:60071600-60098600	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr12:60072200-60098600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:60072800-60098000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr12:60085200-60098600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:60086000-60102400	Weak transcription	Primary T cells from cord blood	blood
9	chr12:60086200-60098400	Weak transcription	Primary B cells from cord blood	blood
10	chr12:60086200-60105200	Weak transcription	Aorta	Aorta
11	chr12:60086200-60106400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:60087600-60108000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr12:60089400-60093800	Weak transcription	HSMM	muscle
14	chr12:60089400-60126000	Weak transcription	Left Ventricle	heart
15	chr12:60089600-60093800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:60092200-60093800	Enhancers	NHEK	skin
17	chr12:60092200-60094000	Enhancers	Hela-S3	cervix
18	chr12:60092200-60094200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:60092200-60094600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr12:60092600-60093800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:60092800-60094600	Enhancers	NHLF	lung
22	chr12:60093000-60094000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:60093000-60094000	Enhancers	Fetal Lung	lung
24	chr12:60093000-60094200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr12:60093200-60094000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:60093200-60094000	Enhancers	Fetal Heart	heart
27	chr12:60093200-60094200	Enhancers	HMEC	breast
28	chr12:60093400-60094000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:60093400-60094000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr12:60093400-60094000	Flanking Active TSS	NHDF-Ad	bronchial
31	chr12:60093600-60093800	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr12:60093600-60093800	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr12:60093600-60093800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:60093600-60093800	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr12:60093600-60094000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:60093600-60094000	Flanking Active TSS	Liver	Liver
37	chr12:60093600-60094000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr12:60093600-60094000	Enhancers	Fetal Brain Male	brain
39	chr12:60093600-60094000	Flanking Active TSS	Osteobl	bone
40	chr12:60093600-60094200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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