Variant report

Variant	rs1376930
Chromosome Location	chr12:42917248-42917249
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	chr12:42911189..42915377-chr12:42915920..42919957,5	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10785342	0.83[CHB][hapmap];0.88[TSI][hapmap]
rs10880308	0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11181527	1.00[CHB][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.88[ASN][1000 genomes]
rs11181533	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11181537	0.99[ASN][1000 genomes]
rs12578780	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12822031	0.81[TSI][hapmap]
rs1376929	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1962405	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2406679	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2406680	0.81[TSI][hapmap]
rs2708079	0.87[ASW][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4768018	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4768419	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61924423	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7137124	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7965948	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7966423	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7966769	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7976735	0.83[CHB][hapmap];0.86[GIH][hapmap]

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	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv832388	chr12:42878328-43087069	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1376930	TMEFF1	trans	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42898400-42929000	Weak transcription	Fetal Kidney	kidney
2	chr12:42901600-42940200	Weak transcription	Ovary	ovary
3	chr12:42903400-42917800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:42903400-42917800	Weak transcription	HSMMtube	muscle
5	chr12:42909000-42918800	Weak transcription	Lung	lung
6	chr12:42910800-42918200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:42910800-42918400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:42910800-42918600	Weak transcription	Fetal Stomach	stomach
9	chr12:42910800-42942000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:42911200-42941800	Weak transcription	Fetal Muscle Leg	muscle
11	chr12:42913800-42957600	Weak transcription	HMEC	breast
12	chr12:42914000-42940800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:42914400-42917400	Weak transcription	Osteobl	bone
14	chr12:42914400-42952600	Weak transcription	Aorta	Aorta
15	chr12:42914600-42918600	Weak transcription	NH-A	brain
16	chr12:42914600-42954800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:42915000-42917400	Weak transcription	HUVEC	blood vessel
18	chr12:42915000-42928000	Weak transcription	Left Ventricle	heart
19	chr12:42916600-42920600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:42917000-42919200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:42917200-42917800	Genic enhancers	Fetal Heart	heart
22	chr12:42917200-42921000	Strong transcription	HSMM	muscle

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