Variant report

Variant	rs16934418
Chromosome Location	chr12:29688261-29688262
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10160943	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs11050279	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11050282	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs11050309	1.00[AMR][1000 genomes]
rs11050323	0.88[CHB][hapmap];0.81[CHD][hapmap]
rs11829731	1.00[CHB][hapmap];0.87[CHD][hapmap]
rs11834291	1.00[CHB][hapmap];0.87[CHD][hapmap]
rs12307107	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs12307164	1.00[MEX][hapmap];0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs12314860	1.00[AMR][1000 genomes]
rs12822100	0.89[CHB][hapmap]
rs12826893	0.89[CHB][hapmap]
rs12826911	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs12828728	0.89[CHB][hapmap]
rs142565	0.89[CHB][hapmap]
rs148897	1.00[CHB][hapmap];0.87[CHD][hapmap]
rs159688	0.89[CHB][hapmap]
rs159691	0.89[CHB][hapmap]
rs159692	0.89[CHB][hapmap]
rs16934523	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16934537	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16934564	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16934569	1.00[CHB][hapmap]
rs16934597	1.00[CHB][hapmap]
rs16934635	0.89[CHB][hapmap]
rs299477	0.89[CHB][hapmap];0.83[CHD][hapmap]
rs299478	0.89[CHB][hapmap];0.83[CHD][hapmap]
rs299482	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs299483	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs299485	0.89[CHB][hapmap]
rs57121177	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7132003	1.00[AMR][1000 genomes]
rs717197	1.00[MEX][hapmap]
rs7301943	1.00[CHB][hapmap];0.87[CHD][hapmap]
rs7312956	1.00[MEX][hapmap]
rs73263823	0.82[AFR][1000 genomes]
rs73263832	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7963041	1.00[AMR][1000 genomes]
rs7977364	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][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	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	nsv469190	chr12:29612425-29811471	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv557917	chr12:29612425-29811471	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1053629	chr12:29680163-29826626	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29650400-29699000	Weak transcription	Right Ventricle	heart
2	chr12:29658400-29690200	Weak transcription	HMEC	breast
3	chr12:29660800-29690000	Weak transcription	NHDF-Ad	bronchial
4	chr12:29665400-29725400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr12:29667200-29695600	Weak transcription	Ovary	ovary
6	chr12:29668600-29690000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:29668600-29695800	Weak transcription	Aorta	Aorta
8	chr12:29668800-29706000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr12:29668800-29716600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:29670600-29697400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr12:29670600-29699000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:29671000-29697200	Weak transcription	Spleen	Spleen
13	chr12:29671600-29695400	Weak transcription	Fetal Stomach	stomach
14	chr12:29671600-29697200	Weak transcription	Left Ventricle	heart
15	chr12:29673600-29708800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:29675800-29689400	Weak transcription	Hela-S3	cervix
17	chr12:29678000-29690000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:29678400-29695000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:29680600-29690400	Weak transcription	Fetal Kidney	kidney
20	chr12:29681600-29690400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr12:29681600-29695600	Weak transcription	Adipose Nuclei	Adipose
22	chr12:29681600-29695800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr12:29682200-29697400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr12:29683600-29692800	Weak transcription	Psoas Muscle	Psoas
25	chr12:29686200-29690800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr12:29687000-29688400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:29687000-29690000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:29687400-29690000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:29687600-29688400	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr12:29687600-29689400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:29687800-29688600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:29687800-29696000	Weak transcription	HSMM	muscle
33	chr12:29688000-29690600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:29688200-29691600	Weak transcription	Brain Substantia Nigra	brain
35	chr12:29688200-29695400	Weak transcription	Fetal Muscle Leg	muscle
36	chr12:29688200-29699000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:29688200-29705400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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