Variant report

Variant	rs12156077
Chromosome Location	chr14:56698496-56698497
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1293315	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13264298	0.86[ASN][1000 genomes]
rs17756892	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2409830	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2409832	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2409833	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2645424	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4308694	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6601611	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6601612	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7002768	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7005011	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7009302	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7015195	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7015547	0.85[AMR][1000 genomes]
rs962366	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1844788	chr14:56594420-56771207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1044886	chr14:56689682-56834648	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv542104	chr14:56689682-56834648	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12156077	CTSB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56682200-56699200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr14:56686800-56702000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr14:56688000-56707800	Weak transcription	Spleen	Spleen
4	chr14:56689600-56699200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr14:56689600-56710000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:56689800-56715800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr14:56692400-56703000	Weak transcription	Aorta	Aorta
8	chr14:56692400-56710000	Weak transcription	Fetal Stomach	stomach
9	chr14:56692600-56701400	Weak transcription	Ovary	ovary
10	chr14:56692600-56703200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr14:56692800-56699200	Weak transcription	Stomach Mucosa	stomach
12	chr14:56693000-56704000	Weak transcription	Primary T cells from cord blood	blood
13	chr14:56693200-56703000	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr14:56693200-56724400	Weak transcription	Gastric	stomach
15	chr14:56694000-56701600	Weak transcription	Pancreas	Pancrea
16	chr14:56694000-56723000	Weak transcription	Lung	lung
17	chr14:56695200-56702200	Weak transcription	Dnd41	blood
18	chr14:56696000-56703200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:56696000-56706400	Weak transcription	Thymus	Thymus
20	chr14:56696000-56715600	Weak transcription	Fetal Thymus	thymus
21	chr14:56696800-56703000	Weak transcription	H1 Cell Line	embryonic stem cell

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