Variant report

Variant	rs832723
Chromosome Location	chr12:47613284-47613285
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	STAT3	chr12:47612999-47613355	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr12:47613051-47613295	MCF10A-Er-Src	breast:	n/a	chr12:47613161-47613171 chr12:47613160-47613172
3	FOSL2	chr12:47613048-47613311	HepG2	liver:	n/a	chr12:47613161-47613171 chr12:47613160-47613172
4	FOSL2	chr12:47612985-47613373	A549	lung:	n/a	chr12:47613161-47613171 chr12:47613160-47613172
5	RAD21	chr12:47613002-47613439	A549	lung:	n/a	n/a
6	FOS	chr12:47613002-47613345	MCF10A-Er-Src	breast:	n/a	chr12:47613161-47613171 chr12:47613160-47613172
7	SP1	chr12:47612879-47613543	A549	lung:	n/a	n/a
8	FOXA1	chr12:47613084-47613320	T-47D	breast:	n/a	n/a
9	REST	chr12:47612828-47613861	A549	lung:	n/a	n/a
10	GATA3	chr12:47612745-47613607	A549	lung:	n/a	n/a
11	FOSL2	chr12:47612815-47613680	A549	lung:	n/a	chr12:47613161-47613171 chr12:47613160-47613172
12	E2F4	chr12:47613249-47613524	MCF10A-Er-Src	breast:	n/a	n/a
13	CEBPB	chr12:47612883-47613493	A549	lung:	n/a	n/a
14	STAT3	chr12:47613001-47613337	MCF10A-Er-Src	breast:	n/a	n/a
15	TCF12	chr12:47612556-47613801	A549	lung:	n/a	n/a
16	EP300	chr12:47612882-47613820	A549	lung:	n/a	chr12:47613577-47613591
17	FOS	chr12:47612993-47613373	MCF10A-Er-Src	breast:	n/a	chr12:47613161-47613171 chr12:47613160-47613172
18	MAFK	chr12:47613155-47613320	HepG2	liver:	n/a	chr12:47613162-47613172 chr12:47613160-47613169
19	STAT3	chr12:47613042-47613670	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr12:47613226-47613392	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr12:47613023-47613336	MCF10A-Er-Src	breast:	n/a	chr12:47613161-47613171 chr12:47613160-47613172
22	SP1	chr12:47612960-47613516	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:47473622..47475648-chr12:47613193..47617300,3	MCF-7	breast:
2	chr12:47611815..47614000-chr12:47619333..47621050,2	K562	blood:
3	chr12:47611807..47614340-chr2:17996221..17998309,2	MCF-7	breast:

Variant related genes	Relation type
PCED1B-AS1	TF binding region
PCED1B	TF binding region
ENSG00000139211	Chromatin interaction
ENSG00000151379	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12825118	1.00[CEU][hapmap];0.85[CHB][hapmap]
rs832716	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs832721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs832725	1.00[CEU][hapmap];0.85[CHB][hapmap]
rs832742	1.00[CEU][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs832723	DDX6	trans	brain	seeQTL

Chromatin state (count:76 , 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	chr12:47601400-47616200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:47601600-47617400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:47601800-47628400	Weak transcription	Esophagus	oesophagus
8	chr12:47602000-47615200	Weak transcription	Fetal Intestine Small	intestine
9	chr12:47602200-47616600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr12:47602600-47616400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr12:47603200-47615600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:47603200-47616400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:47605200-47613600	Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr12:47606200-47613400	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr12:47606600-47616800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:47606800-47614000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr12:47606800-47614200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:47606800-47616600	Weak transcription	Adipose Nuclei	Adipose
19	chr12:47608400-47616800	Weak transcription	Fetal Lung	lung
20	chr12:47609000-47616400	Weak transcription	Colon Smooth Muscle	Colon
21	chr12:47609400-47617000	Weak transcription	Pancreas	Pancrea
22	chr12:47610200-47614800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr12:47610200-47616800	Weak transcription	Brain Anterior Caudate	brain
24	chr12:47610400-47614600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr12:47610400-47615800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
26	chr12:47610400-47628400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:47610600-47616800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr12:47610800-47614400	Weak transcription	NH-A	brain
29	chr12:47610800-47616800	Weak transcription	HSMMtube	muscle
30	chr12:47610800-47617000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:47610800-47617000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:47611000-47617000	Weak transcription	Osteobl	bone
33	chr12:47611600-47616200	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr12:47611800-47613400	Enhancers	K562	blood
35	chr12:47611800-47618000	Enhancers	HMEC	breast
36	chr12:47612000-47614400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr12:47612000-47616600	Weak transcription	Right Ventricle	heart
38	chr12:47612200-47613800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr12:47612200-47615800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:47612200-47616600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:47612400-47613600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr12:47612400-47614000	Enhancers	Primary B cells from peripheral blood	blood
43	chr12:47612400-47614800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr12:47612400-47616400	Weak transcription	Colonic Mucosa	Colon
45	chr12:47612400-47616400	Weak transcription	Duodenum Mucosa	Duodenum
46	chr12:47612400-47616400	Weak transcription	GM12878-XiMat	blood
47	chr12:47612400-47616600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr12:47612400-47616600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr12:47612400-47617000	Weak transcription	Lung	lung
50	chr12:47612400-47617000	Weak transcription	Spleen	Spleen

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