Variant report

Variant	rs12897048
Chromosome Location	chr14:97646181-97646182
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17095072	1.00[ASN][1000 genomes]
rs7149560	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7149736	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8006234	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044202	chr14:97155291-97683983	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv542179	chr14:97155291-97683983	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv948620	chr14:97334444-98133191	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1048462	chr14:97421360-97804598	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv902213	chr14:97637197-97781834	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv902214	chr14:97643737-97864860	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97643600-97646800	Enhancers	Dnd41	blood
2	chr14:97643600-97647000	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr14:97643600-97647000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr14:97644000-97647200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:97644200-97646400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr14:97644600-97646400	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr14:97645000-97646200	Weak transcription	NHDF-Ad	bronchial
8	chr14:97645200-97646400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:97645200-97646400	Weak transcription	Osteobl	bone
10	chr14:97645200-97647200	Enhancers	NHEK	skin
11	chr14:97645200-97650200	Weak transcription	Primary T cells from cord blood	blood
12	chr14:97645600-97647400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:97645800-97646200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr14:97645800-97646200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:97646000-97647200	Enhancers	NH-A	brain
16	chr14:97646000-97647400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr14:97646000-97651800	Weak transcription	Fetal Thymus	thymus

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

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