Variant report

Variant	rs214700
Chromosome Location	chr12:47614938-47614939
allele	A/C
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	chr12:47614569-47615717	A549	lung:	n/a	chr12:47615040-47615053 chr12:47615037-47615054 chr12:47615040-47615053
2	MAX	chr12:47614185-47615922	A549	lung:	n/a	n/a
3	STAT3	chr12:47614399-47615231	MCF10A-Er-Src	breast:	n/a	n/a
4	SP1	chr12:47614130-47615931	A549	lung:	n/a	n/a
5	E2F4	chr12:47614656-47615034	MCF10A-Er-Src	breast:	n/a	n/a
6	CEBPB	chr12:47614890-47615798	A549	lung:	n/a	chr12:47615040-47615053 chr12:47615037-47615054 chr12:47615040-47615053
7	CEBPB	chr12:47614899-47615089	K562	blood:	n/a	chr12:47615040-47615053 chr12:47615037-47615054 chr12:47615040-47615053
8	EP300	chr12:47614230-47615928	A549	lung:	n/a	chr12:47615041-47615055
9	EP300	chr12:47614331-47615989	A549	lung:	n/a	chr12:47615041-47615055
10	REST	chr12:47614329-47615962	A549	lung:	n/a	n/a
11	SP1	chr12:47614161-47616004	A549	lung:	n/a	n/a
12	TFAP2C	chr12:47614369-47614956	Hela-S3	cervix:	n/a	chr12:47614735-47614750
13	TCF12	chr12:47614163-47616048	A549	lung:	n/a	n/a
14	FOSL2	chr12:47614170-47615863	A549	lung:	n/a	n/a
15	CEBPB	chr12:47614922-47615710	HepG2	liver:	n/a	chr12:47615040-47615053 chr12:47615037-47615054 chr12:47615040-47615053
16	TFAP2A	chr12:47614389-47614958	Hela-S3	cervix:	n/a	chr12:47614704-47614719 chr12:47614733-47614748
17	CEBPB	chr12:47614410-47615855	A549	lung:	n/a	chr12:47615040-47615053 chr12:47615037-47615054 chr12:47615040-47615053
18	GATA3	chr12:47614275-47616060	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	chr12:47614083..47616989-chr12:47658260..47660029,2	MCF-7	breast:
3	chr12:47613611..47616531-chr12:47785792..47787897,2	K562	blood:
4	chr12:47471464..47473049-chr12:47613997..47616979,2	MCF-7	breast:

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

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs214694	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs214701	0.82[EUR][1000 genomes]
rs214704	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214711	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2524344	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs832709	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs866881	0.82[EUR][1000 genomes];0.88[ASN][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	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

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47583200-47628600	Weak transcription	Aorta	Aorta
2	chr12:47600800-47616400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:47601400-47616200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:47601600-47617400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:47601800-47628400	Weak transcription	Esophagus	oesophagus
6	chr12:47602000-47615200	Weak transcription	Fetal Intestine Small	intestine
7	chr12:47602200-47616600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:47602600-47616400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr12:47603200-47615600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:47603200-47616400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:47606600-47616800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:47606800-47616600	Weak transcription	Adipose Nuclei	Adipose
13	chr12:47608400-47616800	Weak transcription	Fetal Lung	lung
14	chr12:47609000-47616400	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:47609400-47617000	Weak transcription	Pancreas	Pancrea
16	chr12:47610200-47616800	Weak transcription	Brain Anterior Caudate	brain
17	chr12:47610400-47615800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
18	chr12:47610400-47628400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:47610600-47616800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr12:47610800-47616800	Weak transcription	HSMMtube	muscle
21	chr12:47610800-47617000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:47610800-47617000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:47611000-47617000	Weak transcription	Osteobl	bone
24	chr12:47611600-47616200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr12:47611800-47618000	Enhancers	HMEC	breast
26	chr12:47612000-47616600	Weak transcription	Right Ventricle	heart
27	chr12:47612200-47615800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:47612200-47616600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:47612400-47616400	Weak transcription	Colonic Mucosa	Colon
30	chr12:47612400-47616400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr12:47612400-47616400	Weak transcription	GM12878-XiMat	blood
32	chr12:47612400-47616600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr12:47612400-47616600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr12:47612400-47617000	Weak transcription	Lung	lung
35	chr12:47612400-47617000	Weak transcription	Spleen	Spleen
36	chr12:47612400-47617000	Weak transcription	HSMM	muscle
37	chr12:47612400-47628400	Weak transcription	Placenta	Placenta
38	chr12:47612600-47615400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:47612800-47615400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr12:47612800-47617200	Enhancers	NHEK	skin
41	chr12:47612800-47617800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr12:47613400-47615200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr12:47613400-47615400	Weak transcription	K562	blood
44	chr12:47613400-47616400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr12:47613400-47617000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr12:47613400-47617200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:47613600-47615000	Weak transcription	Fetal Intestine Large	intestine
48	chr12:47613600-47617000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:47613800-47616200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr12:47614000-47616400	Enhancers	HUES6 Cell Line	embryonic stem cell

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