Variant report

Variant	rs1544524
Chromosome Location	chr14:72930162-72930163
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10131497	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes]
rs10139942	1.00[CHB][hapmap]
rs11844202	0.88[JPT][hapmap]
rs12050430	0.89[CEU][hapmap];0.81[CHB][hapmap];0.88[JPT][hapmap]
rs12891926	0.88[JPT][hapmap]
rs1548685	0.89[CEU][hapmap];0.88[JPT][hapmap]
rs17116363	0.80[CEU][hapmap]
rs17780517	0.89[CEU][hapmap];0.88[JPT][hapmap]
rs2190937	0.88[JPT][hapmap]
rs2238177	0.89[CEU][hapmap];0.88[JPT][hapmap]
rs2238179	0.88[JPT][hapmap]
rs2238181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2238191	0.81[CHB][hapmap]
rs2239273	0.89[CEU][hapmap];0.88[JPT][hapmap]
rs2239274	0.89[CEU][hapmap];0.88[JPT][hapmap]
rs2239275	0.89[CEU][hapmap];0.88[JPT][hapmap]
rs2239276	0.89[CEU][hapmap];0.88[JPT][hapmap]
rs2283377	0.89[CEU][hapmap];0.88[JPT][hapmap];0.88[YRI][hapmap];0.84[AMR][1000 genomes]
rs2283381	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs3819549	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55796797	0.81[ASN][1000 genomes]
rs55842248	0.82[ASN][1000 genomes]
rs7159382	0.88[JPT][hapmap]
rs72726132	0.83[ASN][1000 genomes]
rs72726152	0.84[AMR][1000 genomes]
rs917426	0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72919000-72931400	Weak transcription	Adipose Nuclei	Adipose
2	chr14:72919400-72945200	Weak transcription	Brain Germinal Matrix	brain
3	chr14:72923800-72946200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:72925400-72930200	Weak transcription	NHLF	lung
5	chr14:72928600-72930800	Enhancers	HSMMtube	muscle
6	chr14:72929200-72930200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:72929600-72931400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr14:72929800-72930400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr14:72929800-72930600	Enhancers	Hela-S3	cervix
10	chr14:72929800-72930600	Enhancers	HSMM	muscle
11	chr14:72929800-72930600	Enhancers	NHDF-Ad	bronchial
12	chr14:72929800-72934000	Weak transcription	Gastric	stomach
13	chr14:72930000-72930200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
14	chr14:72930000-72930200	Enhancers	Left Ventricle	heart
15	chr14:72930000-72930200	Enhancers	Right Atrium	heart
16	chr14:72930000-72930400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:72930000-72930400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:72930000-72930400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:72930000-72930400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:72930000-72930400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr14:72930000-72930400	Enhancers	Placenta	Placenta
22	chr14:72930000-72930400	Enhancers	NH-A	brain
23	chr14:72930000-72930600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:72930000-72930600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr14:72930000-72930800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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