Variant report

Variant	rs12311512
Chromosome Location	chr12:29849501-29849502
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11050387	0.82[AFR][1000 genomes]
rs12304389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12309843	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12317581	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1863223	0.93[EUR][1000 genomes]
rs58519956	0.93[AFR][1000 genomes]
rs59713519	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7296929	0.93[AFR][1000 genomes]
rs74078972	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7978346	0.85[EUR][1000 genomes]
rs9634107	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer 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	40 gene(s)	inside rSNPs	diseases
2	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv557921	chr12:29843095-29859352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
4	esv1826337	chr12:29844526-29851719	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv557930	chr12:29844526-29851719	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv557939	chr12:29844628-29851719	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv557953	chr12:29844857-29851719	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
8	nsv557956	chr12:29845070-29851719	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29820200-29851600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:29828600-29854000	Weak transcription	Aorta	Aorta
3	chr12:29830000-29854000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:29830000-29861600	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:29830200-29857400	Weak transcription	HSMM	muscle
6	chr12:29830400-29857400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:29830600-29858000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr12:29830800-29862600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr12:29831400-29850400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:29837600-29864200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr12:29838000-29851800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:29839400-29858400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr12:29840600-29859000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:29844400-29851600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:29844600-29850400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:29844800-29850800	Weak transcription	HMEC	breast
17	chr12:29844800-29851200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:29845200-29851000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:29845600-29850400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:29845600-29851000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr12:29845600-29851000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr12:29848200-29854200	Weak transcription	NHDF-Ad	bronchial
23	chr12:29848200-29855200	Weak transcription	Psoas Muscle	Psoas
24	chr12:29848200-29857200	Weak transcription	Left Ventricle	heart

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