Variant report

Variant	rs62141122
Chromosome Location	chr2:30390809-30390810
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30388042..30391287-chr2:30453374..30456490,3	K562	blood:
2	chr2:30385218..30387930-chr2:30389769..30391662,2	K562	blood:
3	chr2:30379061..30381477-chr2:30389554..30391968,2	MCF-7	breast:
4	chr2:30388130..30392158-chr2:30882898..30886661,6	K562	blood:
5	chr2:30390741..30392529-chr2:30392950..30394868,2	K562	blood:

Variant related genes	Relation type
ENSG00000119801	Chromatin interaction
ENSG00000213626	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1001202	1.00[ASN][1000 genomes]
rs1001203	1.00[ASN][1000 genomes]
rs11127261	1.00[ASN][1000 genomes]
rs11127262	1.00[ASN][1000 genomes]
rs11675079	1.00[ASN][1000 genomes]
rs11679132	1.00[ASN][1000 genomes]
rs11679137	1.00[ASN][1000 genomes]
rs11681350	1.00[ASN][1000 genomes]
rs11688651	1.00[ASN][1000 genomes]
rs11690392	1.00[ASN][1000 genomes]
rs11690435	1.00[ASN][1000 genomes]
rs11690629	1.00[ASN][1000 genomes]
rs11694534	1.00[ASN][1000 genomes]
rs11694679	1.00[ASN][1000 genomes]
rs12714304	1.00[ASN][1000 genomes]
rs12996578	1.00[ASN][1000 genomes]
rs13027149	1.00[ASN][1000 genomes]
rs13030064	1.00[ASN][1000 genomes]
rs13422834	1.00[ASN][1000 genomes]
rs34097147	1.00[ASN][1000 genomes]
rs35163883	1.00[ASN][1000 genomes]
rs62141090	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs906864	1.00[ASN][1000 genomes]
rs9967840	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30373200-30396400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:30382400-30392000	Weak transcription	Gastric	stomach
3	chr2:30382400-30393200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:30382400-30395600	Weak transcription	Aorta	Aorta
5	chr2:30382400-30400400	Weak transcription	Left Ventricle	heart
6	chr2:30382400-30400600	Weak transcription	Lung	lung
7	chr2:30382400-30400600	Weak transcription	Spleen	Spleen
8	chr2:30383400-30392000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:30383400-30392200	Weak transcription	Thymus	Thymus
10	chr2:30383400-30393400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:30383400-30395200	Weak transcription	Fetal Heart	heart
12	chr2:30383600-30400800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr2:30384600-30392600	Weak transcription	Brain Angular Gyrus	brain
14	chr2:30385800-30391600	Weak transcription	Adipose Nuclei	Adipose
15	chr2:30386200-30391400	Weak transcription	Primary T cells from cord blood	blood
16	chr2:30386200-30392600	Weak transcription	Fetal Brain Female	brain
17	chr2:30387800-30391000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:30388200-30391800	Weak transcription	Liver	Liver
19	chr2:30388400-30391600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:30388400-30395400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr2:30388400-30401000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:30388800-30391800	Weak transcription	Fetal Lung	lung
23	chr2:30388800-30401400	Weak transcription	HSMMtube	muscle
24	chr2:30388800-30407200	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:30389800-30391800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:30390800-30393400	Weak transcription	Brain Substantia Nigra	brain
27	chr2:30390800-30399200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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