Variant report

Variant	rs12053215
Chromosome Location	chr2:9852283-9852284
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9850271..9852517-chr2:9853774..9855814,2	K562	blood:
2	chr2:9843482..9849818-chr2:9850036..9855209,6	K562	blood:
3	chr2:9768827..9772681-chr2:9851903..9856866,5	K562	blood:
4	chr2:9851396..9853236-chr2:9853754..9855301,2	MCF-7	breast:
5	chr2:9851071..9852686-chr2:9893395..9896154,2	K562	blood:
6	chr2:9847027..9849818-chr2:9850088..9852900,2	K562	blood:
7	chr2:9851728..9854489-chr2:10259269..10262065,2	K562	blood:

Variant related genes	Relation type
ENSG00000134308	Chromatin interaction
ENSG00000272524	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10186640	0.82[ASN][1000 genomes]
rs10754954	0.89[ASN][1000 genomes]
rs10929606	0.82[ASN][1000 genomes]
rs11685771	0.90[ASN][1000 genomes]
rs12466375	0.82[ASN][1000 genomes]
rs12478373	0.87[ASN][1000 genomes]
rs13025476	0.82[ASN][1000 genomes]
rs17592239	0.82[ASN][1000 genomes]
rs34840654	0.90[ASN][1000 genomes]
rs35501269	0.82[ASN][1000 genomes]
rs35690179	0.82[ASN][1000 genomes]
rs35969985	0.82[ASN][1000 genomes]
rs4605345	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4669444	0.82[ASN][1000 genomes]
rs9789690	0.82[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	nsv469405	chr2:9814374-9964947	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv580930	chr2:9814374-9964947	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9845400-9860600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:9846800-9854800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:9848000-9852400	Enhancers	Primary T cells fromperipheralblood	blood
4	chr2:9848400-9852400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:9849000-9852400	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr2:9849400-9852400	Weak transcription	K562	blood
7	chr2:9851400-9852400	Weak transcription	Right Ventricle	heart
8	chr2:9851400-9855400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:9851600-9853000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:9851800-9852400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:9851800-9852800	Enhancers	Fetal Thymus	thymus
12	chr2:9852000-9852400	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr2:9852000-9852400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr2:9852000-9852600	Weak transcription	Right Atrium	heart
15	chr2:9852000-9852600	Active TSS	Spleen	Spleen
16	chr2:9852000-9852800	Enhancers	Left Ventricle	heart
17	chr2:9852000-9853000	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr2:9852000-9853000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:9852000-9853000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr2:9852000-9853000	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr2:9852200-9852800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:9852200-9853200	Enhancers	GM12878-XiMat	blood

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