Variant report

Variant	rs917972
Chromosome Location	chr2:40150729-40150730
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10171743	0.92[EUR][1000 genomes]
rs10186088	0.81[EUR][1000 genomes]
rs10193939	0.92[EUR][1000 genomes]
rs10198341	1.00[EUR][1000 genomes]
rs11124722	1.00[EUR][1000 genomes]
rs11124728	0.92[EUR][1000 genomes]
rs11124731	0.92[EUR][1000 genomes]
rs11124732	0.92[EUR][1000 genomes]
rs1117015	0.92[EUR][1000 genomes]
rs12468217	0.92[EUR][1000 genomes]
rs12471474	0.92[EUR][1000 genomes]
rs12476283	0.92[EUR][1000 genomes]
rs12712674	0.92[EUR][1000 genomes]
rs12990828	0.92[EUR][1000 genomes]
rs13010575	0.92[EUR][1000 genomes]
rs13035505	1.00[EUR][1000 genomes]
rs13427221	0.92[EUR][1000 genomes]
rs1476988	1.00[ASN][1000 genomes]
rs1548875	1.00[EUR][1000 genomes]
rs17024597	1.00[ASN][1000 genomes]
rs1861253	1.00[EUR][1000 genomes]
rs1861262	0.92[EUR][1000 genomes]
rs2024418	0.92[EUR][1000 genomes]
rs2024419	0.92[EUR][1000 genomes]
rs2192721	0.92[EUR][1000 genomes]
rs2215970	0.92[EUR][1000 genomes]
rs2215978	0.92[EUR][1000 genomes]
rs2215979	0.92[EUR][1000 genomes]
rs2373785	0.92[EUR][1000 genomes]
rs2373786	0.92[EUR][1000 genomes]
rs3944017	0.92[EUR][1000 genomes]
rs4245781	0.92[EUR][1000 genomes]
rs4670985	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4952629	0.92[EUR][1000 genomes]
rs4952639	0.92[EUR][1000 genomes]
rs58460675	0.92[EUR][1000 genomes]
rs59028392	1.00[ASN][1000 genomes]
rs6544283	1.00[EUR][1000 genomes]
rs6544286	0.92[EUR][1000 genomes]
rs6544292	0.93[EUR][1000 genomes]
rs6544299	0.92[EUR][1000 genomes]
rs6544300	0.92[EUR][1000 genomes]
rs6544304	0.92[EUR][1000 genomes]
rs6712057	0.92[EUR][1000 genomes]
rs6732101	0.92[EUR][1000 genomes]
rs6732448	0.92[EUR][1000 genomes]
rs6733262	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6747284	0.92[EUR][1000 genomes]
rs6752871	1.00[ASN][1000 genomes]
rs72934813	1.00[EUR][1000 genomes]
rs72938756	1.00[EUR][1000 genomes]
rs73927414	1.00[ASN][1000 genomes]
rs73927415	1.00[ASN][1000 genomes]
rs7565203	0.92[EUR][1000 genomes]
rs7583651	0.92[EUR][1000 genomes]
rs7586599	0.92[EUR][1000 genomes]
rs7589081	1.00[EUR][1000 genomes]
rs7591903	0.92[EUR][1000 genomes]
rs7600823	0.92[EUR][1000 genomes]
rs917978	0.92[EUR][1000 genomes]
rs917979	0.92[EUR][1000 genomes]
rs917981	0.92[EUR][1000 genomes]
rs9749791	1.00[EUR][1000 genomes]
rs981009	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003593	chr2:40009597-40165666	Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535651	chr2:40009597-40165666	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv873891	chr2:40046658-40173905	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv916300	chr2:40079899-40339019	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1003896	chr2:40094081-40231585	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1010609	chr2:40107234-40231674	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv535652	chr2:40107234-40231674	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv998885	chr2:40123904-40182851	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv873893	chr2:40137942-40222206	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv873894	chr2:40139250-40198380	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv873895	chr2:40139250-40207338	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv873896	chr2:40139250-40208665	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv873897	chr2:40139250-40225253	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv963910	chr2:40139364-40155674	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv869668	chr2:40141079-40249854	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv1003920	chr2:40141776-40245464	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv1000423	chr2:40143646-40245464	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40138400-40150800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr2:40141600-40164800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:40147000-40167400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:40148000-40153800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:40148200-40152600	Enhancers	Fetal Thymus	thymus
6	chr2:40148200-40154000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:40149000-40156000	Weak transcription	HSMM	muscle
8	chr2:40150000-40151000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:40150400-40150800	Enhancers	Fetal Brain Male	brain
10	chr2:40150400-40151000	Flanking Active TSS	Dnd41	blood
11	chr2:40150400-40151400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:40150400-40152600	Enhancers	Thymus	Thymus
13	chr2:40150400-40153200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:40150600-40150800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr2:40150600-40150800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr2:40150600-40150800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:40150600-40150800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:40150600-40151000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr2:40150600-40151400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:40150600-40151600	Enhancers	Fetal Stomach	stomach

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