Variant report

Variant	rs72991804
Chromosome Location	chr2:210212662-210212663
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10497926	0.87[EUR][1000 genomes]
rs10497927	0.92[EUR][1000 genomes]
rs10497928	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10497929	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17674661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17675086	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17675171	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17690726	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17690867	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17724977	0.89[EUR][1000 genomes]
rs17741608	0.85[EUR][1000 genomes]
rs34048155	0.83[AMR][1000 genomes]
rs4435391	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs56242340	0.85[EUR][1000 genomes]
rs56389925	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6743365	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72989906	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72989910	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72989919	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72989935	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72990000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72991807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72991851	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72991855	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72991898	0.81[AFR][1000 genomes]
rs73006138	0.85[EUR][1000 genomes]
rs73006145	0.85[EUR][1000 genomes]
rs73006148	0.85[EUR][1000 genomes]
rs73006149	0.85[EUR][1000 genomes]
rs73006151	0.85[EUR][1000 genomes]
rs73006154	0.85[EUR][1000 genomes]
rs73006156	0.87[EUR][1000 genomes]
rs73006158	0.87[EUR][1000 genomes]
rs73006160	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73006161	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73006165	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73006166	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73006170	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73006171	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73006172	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73006173	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7565855	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7587613	0.83[AFR][1000 genomes]
rs7592860	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7606091	0.83[AFR][1000 genomes]
rs930611	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
7	nsv875764	chr2:210195717-210240990	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv834518	chr2:210204958-210372744	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv1014900	chr2:210205050-210235562	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv1006636	chr2:210207332-210235562	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210211600-210213200	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr2:210211800-210213200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:210212000-210213000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:210212000-210213200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:210212000-210213200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:210212000-210213200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr2:210212000-210213200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:210212000-210213400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:210212000-210214000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:210212600-210213200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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