Variant report

Variant	rs62180233
Chromosome Location	chr2:182157572-182157573
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:182152430..182154076-chr2:182155913..182157660,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10197170	0.80[ASN][1000 genomes]
rs1030964	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1371616	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1595812	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17198633	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17270868	0.81[ASN][1000 genomes]
rs17365432	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1899037	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1946895	0.89[ASN][1000 genomes]
rs2033878	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4666738	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4666739	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56118925	0.98[ASN][1000 genomes]
rs62180205	0.89[ASN][1000 genomes]
rs62180206	0.92[ASN][1000 genomes]
rs62180234	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62180242	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62180243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62180246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62180252	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62180253	0.81[ASN][1000 genomes]
rs62180258	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62182269	0.82[ASN][1000 genomes]
rs6706833	0.80[ASN][1000 genomes]
rs73034937	0.94[ASN][1000 genomes]
rs7566314	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs976461	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers 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	39 gene(s)	inside rSNPs	diseases
3	nsv1002647	chr2:182078521-182392273	Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv536064	chr2:182078521-182392273	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182147000-182159400	Weak transcription	Thymus	Thymus
2	chr2:182147000-182160000	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr2:182147800-182158200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr2:182148000-182159600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr2:182148400-182159800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:182150200-182158400	Weak transcription	Dnd41	blood
7	chr2:182150400-182158400	Weak transcription	Primary T cells from cord blood	blood
8	chr2:182153000-182164000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr2:182153800-182159200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr2:182155800-182158200	Weak transcription	Fetal Thymus	thymus
11	chr2:182155800-182160600	Weak transcription	Primary T cells fromperipheralblood	blood

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