Variant report

Variant	rs73000410
Chromosome Location	chr2:210071871-210071872
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10497926	0.90[EUR][1000 genomes]
rs10497927	0.85[EUR][1000 genomes]
rs10497929	0.84[AFR][1000 genomes]
rs1079125	0.84[AMR][1000 genomes]
rs1371436	0.84[AMR][1000 genomes]
rs17675171	0.84[AFR][1000 genomes]
rs17676871	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17677109	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17690101	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17690726	0.87[EUR][1000 genomes]
rs17690867	0.87[EUR][1000 genomes]
rs17724977	0.83[EUR][1000 genomes]
rs17727631	0.84[AMR][1000 genomes]
rs17738731	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17738962	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17739021	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17741608	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1821985	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55733402	0.82[EUR][1000 genomes]
rs55912739	0.80[AMR][1000 genomes]
rs56242340	0.92[EUR][1000 genomes]
rs56251211	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56392159	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6743365	0.87[EUR][1000 genomes]
rs72989906	0.85[EUR][1000 genomes]
rs72989910	0.85[EUR][1000 genomes]
rs72989919	0.85[EUR][1000 genomes]
rs72989935	0.82[EUR][1000 genomes]
rs72991851	0.84[AFR][1000 genomes]
rs72991855	0.84[AFR][1000 genomes]
rs72998548	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72998591	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72998595	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72998599	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73000403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73000412	0.86[AMR][1000 genomes]
rs73000499	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73006109	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73006138	0.92[EUR][1000 genomes]
rs73006145	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73006148	0.92[EUR][1000 genomes]
rs73006149	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73006151	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73006154	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73006156	0.90[EUR][1000 genomes]
rs73006158	0.90[EUR][1000 genomes]
rs73006160	0.87[EUR][1000 genomes]
rs73006161	0.87[EUR][1000 genomes]
rs73006165	0.87[EUR][1000 genomes]
rs73006166	0.87[EUR][1000 genomes]
rs73006170	0.87[EUR][1000 genomes]
rs73006171	0.87[EUR][1000 genomes]
rs73006172	0.87[EUR][1000 genomes]
rs73006173	0.87[EUR][1000 genomes]
rs7565855	0.82[EUR][1000 genomes]
rs7592860	0.85[EUR][1000 genomes]
rs930611	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875761	chr2:209912108-210222004	Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1000214	chr2:209987607-210308626	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv536133	chr2:209987607-210308626	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv460059	chr2:210058383-210215272	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv584308	chr2:210058383-210215272	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1006506	chr2:210063871-210212039	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv536134	chr2:210063871-210212039	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1003864	chr2:210063871-210308626	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210066000-210072400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr2:210066000-210073000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:210068600-210072000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:210071800-210072600	Active TSS	iPS-15b Cell Line	embryonic stem cell

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