Variant report

Variant	rs12818979
Chromosome Location	chr12:26347978-26347979
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:26347965-26349671	PANC-1	pancreas:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SSPN-3	chr12:26347810-26348109	l_621_chr12:26342464-26348546_testes

Variant related genes	Relation type
SSPN	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12318480	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12822290	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12827659	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12829316	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1480037	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1531649	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17380788	1.00[ASN][1000 genomes]
rs34371272	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34753809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4963970	1.00[ASN][1000 genomes]
rs57749967	0.89[ASN][1000 genomes]
rs57948457	0.89[ASN][1000 genomes]
rs58292015	1.00[ASN][1000 genomes]
rs58769131	0.89[ASN][1000 genomes]
rs59631457	1.00[ASN][1000 genomes]
rs61139398	0.89[ASN][1000 genomes]
rs71438624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73292989	1.00[ASN][1000 genomes]
rs73292998	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv648	chr12:26330291-26375186	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26338800-26348200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:26341800-26348000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:26341800-26348000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:26341800-26348000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:26341800-26348000	Weak transcription	A549	lung
6	chr12:26341800-26348000	Weak transcription	NH-A	brain
7	chr12:26341800-26348000	Weak transcription	NHEK	skin
8	chr12:26341800-26348000	Weak transcription	Osteobl	bone
9	chr12:26343600-26348000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:26346800-26348000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:26347400-26348000	Weak transcription	Placenta	Placenta
12	chr12:26347600-26348000	Enhancers	Fetal Muscle Trunk	muscle
13	chr12:26347800-26348000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr12:26347800-26348000	Enhancers	Primary B cells from peripheral blood	blood
15	chr12:26347800-26348000	Enhancers	Primary hematopoietic stem cells	blood
16	chr12:26347800-26348000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:26347800-26348000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:26347800-26348000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr12:26347800-26348000	Enhancers	Brain Germinal Matrix	brain
20	chr12:26347800-26348000	Enhancers	Fetal Muscle Leg	muscle
21	chr12:26347800-26348000	Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr12:26347800-26348000	Active TSS	Thymus	Thymus
23	chr12:26347800-26349000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:26347800-26349200	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr12:26347800-26349600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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