Variant report

Variant	rs62299312
Chromosome Location	chr4:27049947-27049948
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:27049663..27050552-chr4:27320144..27321043,3	MCF-7	breast:
2	chr4:27049630..27050564-chr4:27086025..27086924,3	K562	blood:
3	chr4:27048431..27052730-chr4:27053495..27057145,5	K562	blood:
4	chr4:27049831..27050640-chr4:27086186..27086987,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11734522	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12641290	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12642922	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12649969	0.88[ASN][1000 genomes]
rs16878719	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16878720	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62299310	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62299311	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7654400	0.99[ASN][1000 genomes]
rs7676191	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7681425	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470021	chr4:26721578-27067027	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv461312	chr4:26844674-27078376	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv593872	chr4:26844674-27078376	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62299312	STIM2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:27045800-27050400	Weak transcription	Left Ventricle	heart
2	chr4:27046600-27050000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr4:27048000-27050200	Enhancers	Liver	Liver
4	chr4:27048000-27050200	Weak transcription	Fetal Kidney	kidney
5	chr4:27049600-27050200	Enhancers	Fetal Brain Male	brain
6	chr4:27049800-27050000	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:27049800-27050000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr4:27049800-27050000	Flanking Active TSS	Brain Cingulate Gyrus	brain
9	chr4:27049800-27050000	Enhancers	Brain Hippocampus Middle	brain
10	chr4:27049800-27050200	Enhancers	Adipose Nuclei	Adipose
11	chr4:27049800-27050200	Enhancers	Brain Angular Gyrus	brain
12	chr4:27049800-27050200	Enhancers	Brain Anterior Caudate	brain
13	chr4:27049800-27050200	Enhancers	Fetal Muscle Leg	muscle
14	chr4:27049800-27050200	Bivalent Enhancer	Psoas Muscle	Psoas
15	chr4:27049800-27050200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr4:27049800-27050200	Enhancers	Osteobl	bone
17	chr4:27049800-27050400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:27049800-27050400	Active TSS	Brain Substantia Nigra	brain
19	chr4:27049800-27050400	Active TSS	Fetal Lung	lung
20	chr4:27049800-27050400	Active TSS	HSMM	muscle
21	chr4:27049800-27050400	Enhancers	K562	blood
22	chr4:27049800-27050400	Active TSS	NHDF-Ad	bronchial
23	chr4:27049800-27050600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:27049800-27050600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:27049800-27050600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr4:27049800-27050600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr4:27049800-27050800	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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