Variant report

Variant	rs17246251
Chromosome Location	chr7:83614620-83614621
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10225972	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10230794	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10246407	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10258140	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10262098	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10265360	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10268354	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12216596	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12216639	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17245595	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17305389	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17305396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2109704	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2109705	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2109706	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34233210	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34661737	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35704122	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61278416	0.84[ASN][1000 genomes]
rs6945668	0.97[ASN][1000 genomes]
rs740948	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7458473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7789094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv607707	chr7:83381032-83646816	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv888622	chr7:83526743-83631376	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1020784	chr7:83577402-83687108	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv888623	chr7:83596683-83687622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv888624	chr7:83596683-83698177	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv2756224	chr7:83613883-83615983	Weak transcription Enhancers Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83588800-83624600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:83589000-83654600	Weak transcription	Fetal Stomach	stomach
3	chr7:83589200-83616600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:83591000-83624200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr7:83591000-83633800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:83591200-83615800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:83591200-83634200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr7:83591200-83638400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:83591200-83654600	Weak transcription	Fetal Muscle Leg	muscle
10	chr7:83591800-83624600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:83592600-83626400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:83604400-83614800	Weak transcription	Fetal Lung	lung
13	chr7:83606000-83654000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:83606200-83643200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr7:83609800-83650400	Weak transcription	NHLF	lung
16	chr7:83610200-83642200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:83610200-83673000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:83611400-83617000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:83611600-83615000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:83611600-83615400	Weak transcription	Colon Smooth Muscle	Colon
21	chr7:83611600-83624600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:83611800-83616200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:83612200-83617600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:83612200-83626400	Weak transcription	NHDF-Ad	bronchial
25	chr7:83613800-83624600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr7:83614000-83616400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr7:83614000-83617000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:83614000-83625600	Weak transcription	Rectal Smooth Muscle	rectum

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