Variant report

Variant	rs62172510
Chromosome Location	chr2:188093671-188093672
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10181845	0.86[EUR][1000 genomes]
rs10191833	0.86[EUR][1000 genomes]
rs11688116	0.87[EUR][1000 genomes]
rs11688157	0.87[EUR][1000 genomes]
rs11694265	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13013355	0.84[EUR][1000 genomes]
rs13392947	0.85[EUR][1000 genomes]
rs13418561	0.87[EUR][1000 genomes]
rs13427277	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1528236	0.83[EUR][1000 genomes]
rs1540859	0.83[EUR][1000 genomes]
rs1706246	0.87[EUR][1000 genomes]
rs1706254	0.85[EUR][1000 genomes]
rs1706273	0.86[EUR][1000 genomes]
rs1728678	0.84[EUR][1000 genomes]
rs17756804	0.86[EUR][1000 genomes]
rs1918902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2203117	0.82[EUR][1000 genomes]
rs4667160	0.84[EUR][1000 genomes]
rs60343740	0.87[EUR][1000 genomes]
rs62172532	0.86[EUR][1000 genomes]
rs62172533	0.86[EUR][1000 genomes]
rs7576060	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs840564	0.84[EUR][1000 genomes]
rs840567	0.86[EUR][1000 genomes]
rs840569	0.84[EUR][1000 genomes]
rs840570	0.84[EUR][1000 genomes]
rs840571	0.84[EUR][1000 genomes]
rs840572	0.84[EUR][1000 genomes]
rs840574	0.84[EUR][1000 genomes]
rs840576	0.86[EUR][1000 genomes]
rs840577	0.84[EUR][1000 genomes]
rs840578	0.84[EUR][1000 genomes]
rs858919	0.85[EUR][1000 genomes]
rs861458	0.85[EUR][1000 genomes]
rs865763	0.86[EUR][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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188092000-188093800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:188092400-188093800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:188092400-188094000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:188092600-188093800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr2:188093600-188094200	Enhancers	HUES48 Cell Line	embryonic stem cell

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