Variant report

Variant	rs10747300
Chromosome Location	chr14:70049093-70049094
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:16)

rs_ID	r²[population]
rs17107137	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs2184598	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2877576	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784148	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs3784150	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs3784151	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs3809394	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs3809396	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4899302	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899306	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902735	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902736	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs58585757	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7142060	0.93[EUR][1000 genomes]
rs8015482	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1335	chr14:70036126-70062584	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70041600-70060400	Weak transcription	Esophagus	oesophagus
2	chr14:70043800-70067200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:70045800-70052600	Weak transcription	Right Atrium	heart
4	chr14:70046800-70051600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr14:70047400-70052000	Weak transcription	Lung	lung
6	chr14:70047400-70052400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr14:70047400-70053000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:70047400-70053600	Weak transcription	Stomach Mucosa	stomach
9	chr14:70048200-70049800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr14:70048200-70049800	Enhancers	Hela-S3	cervix
11	chr14:70048400-70049400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:70048400-70049600	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr14:70048600-70053400	Weak transcription	Left Ventricle	heart
14	chr14:70048800-70049400	Enhancers	NH-A	brain
15	chr14:70049000-70049200	Enhancers	Osteobl	bone

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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