Variant report

Variant	rs12316665
Chromosome Location	chr12:29625875-29625876
allele	A/C
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]
rs7133304	1.00[LWK][hapmap];0.86[MKK][hapmap];0.85[YRI][hapmap]
rs7965795	1.00[CEU][hapmap];0.83[YRI][hapmap]
rs7966961	1.00[CEU][hapmap]
rs7980369	1.00[CEU][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	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

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29584200-29641800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:29588000-29639800	Weak transcription	Aorta	Aorta
3	chr12:29598400-29657400	Weak transcription	HSMM	muscle
4	chr12:29600000-29639800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr12:29600600-29675600	Weak transcription	Psoas Muscle	Psoas
6	chr12:29604200-29655400	Weak transcription	Adipose Nuclei	Adipose
7	chr12:29608800-29627200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:29609400-29631600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:29612800-29655600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:29613600-29655600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:29613600-29666800	Weak transcription	Spleen	Spleen
12	chr12:29614600-29658000	Weak transcription	HSMMtube	muscle
13	chr12:29616400-29659400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr12:29617400-29657400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:29618200-29642000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:29622200-29627800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:29624000-29630800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr12:29624800-29626400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:29625000-29656800	Weak transcription	Left Ventricle	heart
20	chr12:29625200-29628200	Strong transcription	Muscle Satellite Cultured Cells	--

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