Variant report

Variant	rs62180168
Chromosome Location	chr2:182016234-182016235
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:182013926..182016725-chr2:182035700..182038475,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11904405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17198619	1.00[ASN][1000 genomes]
rs4583420	1.00[ASN][1000 genomes]
rs62178847	1.00[ASN][1000 genomes]
rs62178848	1.00[ASN][1000 genomes]
rs62178851	1.00[ASN][1000 genomes]
rs62178852	1.00[ASN][1000 genomes]
rs62178855	1.00[ASN][1000 genomes]
rs62178859	1.00[ASN][1000 genomes]
rs62180161	1.00[ASN][1000 genomes]
rs62180162	1.00[ASN][1000 genomes]
rs62180166	1.00[EUR][1000 genomes]
rs62180167	1.00[ASN][1000 genomes]
rs62180169	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62180174	1.00[ASN][1000 genomes]
rs62180176	1.00[ASN][1000 genomes]
rs62180186	1.00[ASN][1000 genomes]
rs62180188	1.00[ASN][1000 genomes]
rs62180190	1.00[ASN][1000 genomes]
rs62180194	1.00[ASN][1000 genomes]
rs62180197	1.00[ASN][1000 genomes]
rs62180198	1.00[ASN][1000 genomes]
rs62180200	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433896	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6719497	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6738120	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6758061	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73976816	0.94[EUR][1000 genomes]
rs7577144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606704	1.00[ASN][1000 genomes]
rs9679289	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431824	chr2:181946115-182118559	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv459954	chr2:181975252-182040293	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv583910	chr2:181975252-182040293	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:181999600-182022000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:182009800-182016600	Weak transcription	Dnd41	blood
3	chr2:182010800-182021000	Weak transcription	Fetal Thymus	thymus
4	chr2:182011400-182020800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:182012000-182017000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:182013800-182017200	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:182014400-182016600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:182014400-182016600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:182014400-182016800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:182014400-182017000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:182014400-182027600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:182014600-182016600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:182014600-182016600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr2:182014600-182017200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:182015200-182016600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr2:182015800-182019200	Enhancers	Primary T cells from cord blood	blood
17	chr2:182016200-182017800	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr2:182016200-182018600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr2:182016200-182018600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr2:182016200-182019000	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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