Variant report

Variant	rs62156219
Chromosome Location	chr2:97409086-97409087
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:97407137..97410088-chr2:97534344..97536079,2	MCF-7	breast:
2	chr2:97407779..97410358-chr2:97422374..97426417,4	K562	blood:

Variant related genes	Relation type
ENSG00000168758	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10203346	0.81[ASN][1000 genomes]
rs11889085	0.95[ASN][1000 genomes]
rs12172	0.83[ASN][1000 genomes]
rs1320146	0.83[ASN][1000 genomes]
rs13419073	0.83[ASN][1000 genomes]
rs17119562	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17119564	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17119591	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17119598	0.83[ASN][1000 genomes]
rs2139406	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2276654	0.83[ASN][1000 genomes]
rs2280356	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2314399	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2872633	0.98[EUR][1000 genomes]
rs3731940	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3731941	0.88[ASN][1000 genomes]
rs56797569	1.00[ASN][1000 genomes]
rs56913233	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57582887	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58147284	0.83[ASN][1000 genomes]
rs59073958	0.90[EUR][1000 genomes]
rs59648446	0.86[EUR][1000 genomes]
rs61742095	0.98[EUR][1000 genomes]
rs61750875	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62152765	1.00[ASN][1000 genomes]
rs62152766	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62152767	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62152768	1.00[ASN][1000 genomes]
rs62152770	1.00[ASN][1000 genomes]
rs62152771	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62152772	0.95[ASN][1000 genomes]
rs62152773	0.95[ASN][1000 genomes]
rs62152774	0.95[ASN][1000 genomes]
rs62152775	0.95[ASN][1000 genomes]
rs62152777	0.90[ASN][1000 genomes]
rs62152780	0.98[EUR][1000 genomes]
rs62152783	0.90[ASN][1000 genomes]
rs62152784	0.84[ASN][1000 genomes]
rs62152785	0.90[ASN][1000 genomes]
rs62152786	0.88[ASN][1000 genomes]
rs62152787	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62152788	0.81[ASN][1000 genomes]
rs62152790	0.83[ASN][1000 genomes]
rs62152793	0.83[ASN][1000 genomes]
rs62152794	0.83[ASN][1000 genomes]
rs62152834	0.83[ASN][1000 genomes]
rs62152860	0.81[ASN][1000 genomes]
rs62156206	0.94[EUR][1000 genomes]
rs62156207	0.94[EUR][1000 genomes]
rs62156208	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156209	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156210	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156211	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156212	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156213	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156216	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156220	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156221	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156222	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156223	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156225	1.00[ASN][1000 genomes]
rs62156226	1.00[ASN][1000 genomes]
rs62156227	1.00[ASN][1000 genomes]
rs62156228	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156229	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62156230	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62156231	1.00[ASN][1000 genomes]
rs62156232	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156233	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62156234	1.00[ASN][1000 genomes]
rs6576981	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6576986	0.83[ASN][1000 genomes]
rs6576987	0.83[ASN][1000 genomes]
rs6751132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6756482	0.90[ASN][1000 genomes]
rs6758151	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72809850	0.95[ASN][1000 genomes]
rs72811623	0.83[ASN][1000 genomes]
rs7568206	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580942	0.83[ASN][1000 genomes]
rs878064	0.98[ASN][1000 genomes]
rs9973492	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv469775	chr2:97240926-97412491	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
10	nsv482586	chr2:97240926-97412491	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
11	nsv834306	chr2:97241115-97412938	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
13	nsv834307	chr2:97321447-97479266	Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
14	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 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	chr2:97406000-97414000	Weak transcription	Spleen	Spleen
2	chr2:97406600-97413400	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr2:97406600-97413400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:97407200-97410800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:97408800-97413200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr2:97409000-97410600	Weak transcription	H9 Cell Line	embryonic stem cell

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