Variant report

Variant	rs12592026
Chromosome Location	chr15:75806657-75806658
allele	C/T
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	chr15:75806464-75806908	PFSK-1	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000259931	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12591076	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12591309	1.00[EUR][1000 genomes]
rs12591954	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12592505	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12593372	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12593870	1.00[EUR][1000 genomes]
rs12594671	1.00[EUR][1000 genomes]
rs28372857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4886434	1.00[EUR][1000 genomes]
rs4886435	1.00[EUR][1000 genomes]
rs4886445	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4886685	1.00[EUR][1000 genomes]
rs4886689	1.00[EUR][1000 genomes]
rs4886697	1.00[EUR][1000 genomes]
rs4886701	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8032031	1.00[EUR][1000 genomes]
rs8035510	1.00[EUR][1000 genomes]
rs8035796	1.00[EUR][1000 genomes]
rs9788768	1.00[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	nsv531901	chr15:75600108-76019966	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	esv3445070	chr15:75623136-76045948	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv530345	chr15:75628556-75951011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv1048028	chr15:75637515-76019967	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
5	nsv542436	chr15:75637515-76019967	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
6	nsv482802	chr15:75686519-75899896	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
7	esv1800424	chr15:75692303-75991451	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
8	nsv904387	chr15:75706296-75806911	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv531902	chr15:75724505-75919237	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
10	nsv904389	chr15:75739824-75806911	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
11	nsv904390	chr15:75795177-75840943	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75777200-75816800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:75777600-75812000	Weak transcription	Small Intestine	intestine
3	chr15:75780200-75812200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr15:75782600-75815200	Weak transcription	K562	blood
5	chr15:75785600-75814200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr15:75790000-75814200	Weak transcription	Psoas Muscle	Psoas
7	chr15:75797800-75819600	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr15:75797800-75819600	Strong transcription	Fetal Stomach	stomach
9	chr15:75797800-75820000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr15:75798400-75824800	Weak transcription	Stomach Mucosa	stomach
11	chr15:75798400-75825000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr15:75798600-75807600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr15:75798600-75818800	Weak transcription	Fetal Heart	heart
14	chr15:75798800-75820400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:75799000-75813200	Weak transcription	Aorta	Aorta
16	chr15:75799200-75812800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr15:75799200-75814000	Weak transcription	Fetal Brain Male	brain
18	chr15:75799200-75814800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr15:75799400-75807600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr15:75799400-75808800	Weak transcription	Fetal Kidney	kidney
21	chr15:75799400-75809400	Weak transcription	Primary B cells from cord blood	blood
22	chr15:75799400-75809600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr15:75799400-75809600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr15:75799400-75812200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr15:75799400-75814200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr15:75799400-75814200	Weak transcription	Pancreas	Pancrea
27	chr15:75799400-75818000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr15:75799400-75819400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:75799400-75821800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr15:75799600-75807600	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr15:75799600-75813200	Weak transcription	Esophagus	oesophagus
32	chr15:75799800-75812000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr15:75800600-75819800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr15:75801200-75809600	Weak transcription	Brain Hippocampus Middle	brain
35	chr15:75801200-75812400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr15:75801400-75808400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr15:75801400-75809200	Weak transcription	Hela-S3	cervix
38	chr15:75801400-75809200	Weak transcription	Osteobl	bone
39	chr15:75801400-75809400	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr15:75801400-75812200	Weak transcription	NHLF	lung
41	chr15:75801400-75820800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr15:75802400-75820000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr15:75802600-75807600	Strong transcription	Fetal Intestine Large	intestine
44	chr15:75802600-75808800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr15:75802600-75809200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr15:75802800-75819600	Strong transcription	Liver	Liver
47	chr15:75802800-75820000	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr15:75803200-75807400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr15:75803200-75807800	Strong transcription	Duodenum Mucosa	Duodenum
50	chr15:75803200-75808200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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