Variant report

Variant	rs7311677
Chromosome Location	chr12:42972676-42972677
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12818034	0.86[ASN][1000 genomes]
rs12821463	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2406870	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs35672994	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42946800-42975200	Weak transcription	Fetal Muscle Leg	muscle
2	chr12:42959400-42978600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:42960000-42976000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr12:42960400-42981400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr12:42963800-42977200	Weak transcription	HSMM	muscle
6	chr12:42963800-42978400	Weak transcription	NH-A	brain
7	chr12:42965600-42978600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:42966600-42976000	Enhancers	HUVEC	blood vessel
9	chr12:42967000-42973400	Enhancers	Fetal Heart	heart
10	chr12:42967800-42979400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:42968000-42975600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:42968000-42978600	Weak transcription	Left Ventricle	heart
13	chr12:42968400-42975800	Weak transcription	Osteobl	bone
14	chr12:42968400-42976400	Weak transcription	Aorta	Aorta
15	chr12:42968400-42978000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:42970000-42978600	Weak transcription	Right Ventricle	heart
17	chr12:42970200-42975800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:42970200-42978000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:42970400-42976000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr12:42970400-42979400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr12:42970600-42975000	Weak transcription	Fetal Stomach	stomach
22	chr12:42970600-42975600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:42970600-42978000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr12:42971000-42975800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:42971000-42981400	Weak transcription	Stomach Mucosa	stomach
26	chr12:42971400-42973400	Enhancers	Fetal Kidney	kidney
27	chr12:42971600-42973400	Enhancers	Fetal Lung	lung
28	chr12:42971800-42974400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:42972200-42976400	Weak transcription	HSMMtube	muscle
30	chr12:42972400-42976400	Weak transcription	Adipose Nuclei	Adipose
31	chr12:42972400-42976800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:42972600-42973200	Enhancers	Lung	lung

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