Variant report

Variant	rs832726
Chromosome Location	chr12:47607017-47607018
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	CEBPB	chr12:47605875-47607064	A549	lung:	n/a	chr12:47606133-47606146
2	TBL1XR1	chr12:47606919-47607064	K562	blood:	n/a	n/a
3	NFYA	chr12:47606539-47607030	Hela-S3	cervix:	n/a	n/a
4	GATA3	chr12:47605829-47607093	A549	lung:	n/a	n/a
5	EP300	chr12:47605750-47607094	A549	lung:	n/a	n/a
6	SIX5	chr12:47605852-47607155	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:47603497..47605103-chr12:47606291..47607826,2	MCF-7	breast:
2	chr12:47606333..47607962-chr12:47619491..47621970,2	K562	blood:
3	chr12:47598802..47603269-chr12:47603355..47607825,7	K562	blood:

Variant related genes	Relation type
PCED1B-AS1	TF binding region
PCED1B	TF binding region
ENSG00000247774	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10881074	0.80[JPT][hapmap]
rs4768783	0.82[JPT][hapmap]
rs832733	0.82[JPT][hapmap]
rs832741	0.94[JPT][hapmap];0.84[MEX][hapmap]

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	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv832399	chr12:47502910-47689601	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription 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 miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs832726	PRICKLE1	cis	parietal	SCAN
rs832726	C12orf68	cis	cerebellum	SCAN

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47583200-47628600	Weak transcription	Aorta	Aorta
2	chr12:47600000-47614600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr12:47600800-47614400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:47600800-47616400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:47601400-47610000	Weak transcription	HSMM	muscle
6	chr12:47601400-47610200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:47601400-47612000	Weak transcription	Gastric	stomach
8	chr12:47601400-47616200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:47601600-47610400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:47601600-47617400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:47601800-47628400	Weak transcription	Esophagus	oesophagus
12	chr12:47602000-47608600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:47602000-47615200	Weak transcription	Fetal Intestine Small	intestine
14	chr12:47602200-47616600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr12:47602600-47616400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr12:47603000-47608000	Weak transcription	Dnd41	blood
17	chr12:47603000-47608600	Weak transcription	Thymus	Thymus
18	chr12:47603000-47608800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr12:47603000-47609600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:47603200-47608200	Weak transcription	Fetal Thymus	thymus
21	chr12:47603200-47611800	Weak transcription	Spleen	Spleen
22	chr12:47603200-47615600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:47603200-47616400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:47603800-47608200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr12:47603800-47608200	Weak transcription	K562	blood
26	chr12:47604000-47608200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:47604200-47608600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:47604200-47608800	Weak transcription	GM12878-XiMat	blood
29	chr12:47604800-47612000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:47605200-47613000	Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr12:47605200-47613000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr12:47605200-47613600	Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr12:47605800-47608600	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr12:47606000-47607400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr12:47606000-47608400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
36	chr12:47606000-47608400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr12:47606200-47613400	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr12:47606400-47610000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr12:47606600-47608000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr12:47606600-47611800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr12:47606600-47616800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:47606800-47608200	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr12:47606800-47608200	Enhancers	Primary B cells from peripheral blood	blood
44	chr12:47606800-47608600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:47606800-47608800	Weak transcription	Liver	Liver
46	chr12:47606800-47610200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:47606800-47610200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr12:47606800-47611800	Active TSS	Primary T cells fromperipheralblood	blood
49	chr12:47606800-47612600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr12:47606800-47614000	Active TSS	Primary T helper naive cells fromperipheralblood	blood

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