Variant report

Variant	rs17109500
Chromosome Location	chr14:80046850-80046851
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10132897	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10134188	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10137102	0.92[ASW][hapmap];1.00[CEU][hapmap];0.88[LWK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10141349	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10148779	0.81[YRI][hapmap]
rs10149978	0.88[YRI][hapmap]
rs10162315	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10162571	1.00[MEX][hapmap]
rs10483925	1.00[MEX][hapmap]
rs11844619	1.00[MEX][hapmap]
rs1364604	0.85[YRI][hapmap]
rs1544726	0.85[ASW][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes]
rs1544842	0.89[YRI][hapmap]
rs17109461	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17764119	1.00[CEU][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17764298	1.00[ASN][1000 genomes]
rs17764397	1.00[ASN][1000 genomes]
rs17836262	1.00[ASN][1000 genomes]
rs17836264	1.00[ASN][1000 genomes]
rs17836266	1.00[ASN][1000 genomes]
rs17836292	1.00[ASN][1000 genomes]
rs17836306	1.00[ASN][1000 genomes]
rs28519457	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28584086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61153207	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6574509	1.00[MEX][hapmap]
rs7141526	0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs7144465	1.00[MEX][hapmap]
rs7145924	1.00[MEX][hapmap]
rs7148240	0.89[YRI][hapmap]
rs7153889	1.00[MEX][hapmap]
rs7154918	0.92[YRI][hapmap];0.85[AFR][1000 genomes]
rs7156216	0.89[YRI][hapmap]
rs7160334	0.85[ASW][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs73326053	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73326059	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73326100	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73332255	1.00[ASN][1000 genomes]
rs8006556	1.00[ASN][1000 genomes]
rs8010135	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9652379	0.92[YRI][hapmap];0.84[AFR][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	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1039622	chr14:79908702-80266601	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv902112	chr14:79939393-80050771	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv869542	chr14:80009619-80118315	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80011800-80069200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:80040000-80049400	Weak transcription	HSMM	muscle
3	chr14:80042200-80051200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr14:80043200-80047000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr14:80043600-80050600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr14:80044800-80047600	Weak transcription	A549	lung
7	chr14:80045000-80047400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:80045000-80052200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:80045000-80052200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:80045200-80047400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:80045200-80048400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:80045200-80048400	Weak transcription	Osteobl	bone
13	chr14:80045200-80049400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr14:80045200-80050800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr14:80045200-80057000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:80045200-80062200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr14:80045800-80048400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:80046200-80047400	Enhancers	Fetal Heart	heart
19	chr14:80046200-80048600	Enhancers	HSMMtube	muscle
20	chr14:80046600-80047600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr14:80046600-80047600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr14:80046600-80047600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr14:80046800-80047000	Enhancers	Fetal Kidney	kidney
24	chr14:80046800-80047000	Enhancers	Hela-S3	cervix
25	chr14:80046800-80047200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr14:80046800-80047200	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr14:80046800-80047200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:80046800-80047400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr14:80046800-80047600	Enhancers	Fetal Muscle Leg	muscle
30	chr14:80046800-80047800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr14:80046800-80048800	Enhancers	NH-A	brain

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