Variant report

Variant	rs12615315
Chromosome Location	chr2:151456951-151456952
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10469691	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10469692	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2340859	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2340864	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34849534	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4664679	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6757157	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7571312	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7604619	1.00[CEU][hapmap];0.98[EUR][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	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv532473	chr2:151164210-151701860	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv834415	chr2:151374254-151558649	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151449000-151457600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:151452600-151457800	Weak transcription	Aorta	Aorta
3	chr2:151453600-151457400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr2:151453600-151457400	Weak transcription	HSMM	muscle
5	chr2:151453800-151457000	Weak transcription	HSMMtube	muscle
6	chr2:151453800-151457800	Weak transcription	NH-A	brain
7	chr2:151454800-151458000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:151454800-151458000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:151455400-151457400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:151455400-151457400	Weak transcription	Adipose Nuclei	Adipose
11	chr2:151455400-151457600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:151455400-151458200	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:151455600-151457200	Weak transcription	Liver	Liver
14	chr2:151456000-151457800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:151456000-151458200	Enhancers	NHDF-Ad	bronchial
16	chr2:151456600-151457400	Enhancers	A549	lung
17	chr2:151456600-151457800	Enhancers	Osteobl	bone
18	chr2:151456800-151457400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:151456800-151458600	Enhancers	NHLF	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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