Variant report

Variant	rs58601170
Chromosome Location	chr2:188091039-188091040
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10497680	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13432509	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13432953	0.83[ASN][1000 genomes]
rs16828590	0.81[AFR][1000 genomes]
rs16828669	0.86[AFR][1000 genomes]
rs17705816	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17705846	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28866036	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3771088	0.83[ASN][1000 genomes]
rs3771095	0.85[ASN][1000 genomes]
rs3815524	0.85[ASN][1000 genomes]
rs4614897	0.85[AFR][1000 genomes]
rs56067996	0.90[AFR][1000 genomes]
rs59646699	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6725883	0.86[AFR][1000 genomes]
rs6756559	0.81[AFR][1000 genomes]
rs67965661	0.85[ASN][1000 genomes]
rs72893349	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72895223	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72895240	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72898690	0.87[ASN][1000 genomes]
rs72899252	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72899256	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72899263	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72899265	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72899302	0.83[ASN][1000 genomes]
rs72900656	0.85[ASN][1000 genomes]
rs72904948	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72904991	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72906926	0.83[EUR][1000 genomes]
rs72906928	0.83[EUR][1000 genomes]
rs72906932	0.83[EUR][1000 genomes]
rs72910645	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73979609	0.81[AFR][1000 genomes]
rs73979611	0.81[AFR][1000 genomes]
rs73979619	0.81[AFR][1000 genomes]
rs73979643	0.81[AFR][1000 genomes]
rs73979678	0.86[AFR][1000 genomes]
rs73979692	0.86[AFR][1000 genomes]
rs73979693	0.86[AFR][1000 genomes]
rs73979694	0.86[AFR][1000 genomes]
rs73979701	0.90[AFR][1000 genomes]
rs73981116	0.90[AFR][1000 genomes]
rs7575154	0.86[ASN][1000 genomes]
rs7584162	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7588800	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7596333	0.84[ASN][1000 genomes]
rs840606	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949700	chr2:187713412-188361211	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv431857	chr2:187930023-188098798	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1003061	chr2:187950057-188282330	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1000617	chr2:187950057-188290511	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv875555	chr2:188023107-188143677	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv2751839	chr2:188035947-188141690	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv2763652	chr2:188042583-188153257	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1004711	chr2:188044247-188142073	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv997699	chr2:188052351-188142073	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv584032	chr2:188083217-188150228	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv875556	chr2:188083300-188135654	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv533935	chr2:188089148-188284766	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188088000-188091400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
2	chr2:188088200-188092200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:188088400-188091800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr2:188088800-188092200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:188089000-188092400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:188090600-188092000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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