Variant report

Variant	rs12497815
Chromosome Location	chr3:138568899-138568900
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:138552298..138556621-chr3:138563607..138569226,8	K562	blood:
2	chr3:138558851..138561019-chr3:138568750..138570269,2	K562	blood:
3	chr3:138559519..138561549-chr3:138568726..138570250,2	K562	blood:
4	chr3:138552479..138554870-chr3:138567696..138569343,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000051382	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10804659	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10935288	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11706016	0.94[EUR][1000 genomes]
rs11708762	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11711360	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11924479	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12631035	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12633714	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12635713	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13061496	0.94[EUR][1000 genomes]
rs13072146	0.91[EUR][1000 genomes]
rs13077455	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13100110	0.88[EUR][1000 genomes]
rs17484361	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2881900	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4405948	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4894358	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4894359	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282204	0.87[EUR][1000 genomes]
rs62282207	0.85[EUR][1000 genomes]
rs6773514	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6776833	0.82[EUR][1000 genomes]
rs6780989	1.00[ASN][1000 genomes]
rs6784610	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6791627	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6794270	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6800801	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7613579	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7628172	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7634571	0.81[EUR][1000 genomes]
rs7646689	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7650967	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9289566	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9647336	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9647337	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9813576	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9817727	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9818354	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9822500	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9851887	0.91[EUR][1000 genomes]
rs9855727	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9871842	0.82[EUR][1000 genomes]
rs9877108	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9882957	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1013074	chr3:138213166-138737688	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1002612	chr3:138213274-138831792	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv536726	chr3:138213274-138831792	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1009726	chr3:138219923-138737688	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv869205	chr3:138248190-138775288	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv868955	chr3:138248190-138848947	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv591854	chr3:138348081-138764229	Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv1010514	chr3:138365640-138737688	Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv1000927	chr3:138423543-138632596	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv917964	chr3:138440701-138699084	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12497815	PIK3CB	Cis_1M	lymphoblastoid	RTeQTL
rs12497815	CEP70	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138565800-138571800	Weak transcription	NHEK	skin
2	chr3:138565800-138573200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:138566400-138571800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr3:138567400-138569200	Enhancers	Fetal Intestine Large	intestine
5	chr3:138567400-138569200	Enhancers	Fetal Intestine Small	intestine
6	chr3:138567400-138569400	Enhancers	HepG2	liver
7	chr3:138567600-138569000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr3:138567800-138569000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:138568200-138569400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr3:138568400-138569000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr3:138568400-138569000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr3:138568600-138569000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr3:138568600-138569000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr3:138568600-138569000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr3:138568600-138569200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr3:138568600-138569400	Enhancers	Fetal Heart	heart
17	chr3:138568800-138569200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr3:138568800-138572600	Weak transcription	Adipose Nuclei	Adipose
19	chr3:138568800-138579800	Weak transcription	H9 Cell Line	embryonic stem cell

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