Variant report

Variant	rs11613028
Chromosome Location	chr12:106067301-106067302
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11615144	0.83[EUR][1000 genomes]
rs11616099	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17266153	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61941483	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039068	chr12:105935786-106211250	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv899503	chr12:106021477-106175903	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv560054	chr12:106048142-106083042	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1047810	chr12:106067049-106246582	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106064200-106067400	Enhancers	Fetal Muscle Leg	muscle
2	chr12:106064800-106067400	Enhancers	Fetal Stomach	stomach
3	chr12:106065400-106067600	Enhancers	Fetal Muscle Trunk	muscle
4	chr12:106066600-106068000	Weak transcription	Left Ventricle	heart
5	chr12:106066600-106068000	Weak transcription	Lung	lung
6	chr12:106066600-106068000	Weak transcription	Right Atrium	heart
7	chr12:106066600-106068800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:106066600-106069200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr12:106066600-106069400	Weak transcription	Psoas Muscle	Psoas
10	chr12:106066600-106069800	Weak transcription	Gastric	stomach
11	chr12:106066600-106070400	Weak transcription	Esophagus	oesophagus
12	chr12:106066600-106070400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:106066600-106070400	Weak transcription	HUVEC	blood vessel
14	chr12:106066600-106070600	Weak transcription	Right Ventricle	heart
15	chr12:106066600-106076800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:106066800-106068600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:106067200-106067400	Weak transcription	Aorta	Aorta
18	chr12:106067200-106068800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:106067200-106068800	Weak transcription	Placenta	Placenta
20	chr12:106067200-106069000	Weak transcription	Colon Smooth Muscle	Colon
21	chr12:106067200-106069600	Weak transcription	Stomach Mucosa	stomach
22	chr12:106067200-106070200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr12:106067200-106070600	Weak transcription	Adipose Nuclei	Adipose

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