Variant report

Variant	rs3782225
Chromosome Location	chr12:75902186-75902187
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	chr12:75901975-75902281	HepG2	liver:	n/a	n/a
2	CEBPB	chr12:75901957-75902283	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr12:75901996-75902290	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr12:75901957-75902298	K562	blood:	n/a	n/a
5	CEBPB	chr12:75901958-75902296	IMR90	lung:	n/a	n/a
6	CEBPB	chr12:75901938-75902344	MCF-7	breast:	n/a	n/a
7	CEBPB	chr12:75901947-75902316	A549	lung:	n/a	n/a
8	CEBPB	chr12:75901940-75902351	A549	lung:	n/a	n/a
9	STAT3	chr12:75902002-75902265	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:75901516..75903864-chr12:75903925..75905942,3	MCF-7	breast:
2	chr12:75872783..75874994-chr12:75900196..75902850,2	K562	blood:

Variant related genes	Relation type
KRR1	TF binding region
ENSG00000111615	Chromatin interaction
ENSG00000139278	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12423477	0.88[EUR][1000 genomes]
rs12424725	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12425236	0.83[AFR][1000 genomes]
rs12425465	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2279246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34281469	0.85[EUR][1000 genomes]
rs58248634	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs59537164	0.82[EUR][1000 genomes]
rs60445445	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492067	chr12:75415458-76077537	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv899313	chr12:75715330-76057811	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv428592	chr12:75766619-75936721	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv470305	chr12:75896688-75987360	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75875600-75903400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:75875800-75903000	Weak transcription	Small Intestine	intestine
3	chr12:75875800-75903600	Weak transcription	Fetal Intestine Small	intestine
4	chr12:75876200-75903400	Weak transcription	Fetal Stomach	stomach
5	chr12:75880600-75903800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:75882600-75903200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:75883400-75902600	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr12:75883600-75902200	Strong transcription	Primary B cells from peripheral blood	blood
9	chr12:75883800-75904800	Weak transcription	Esophagus	oesophagus
10	chr12:75884200-75902200	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr12:75885000-75902200	Strong transcription	HUVEC	blood vessel
12	chr12:75885000-75902400	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr12:75886200-75903200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:75886600-75903000	Strong transcription	Fetal Thymus	thymus
15	chr12:75887000-75902200	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:75887200-75902200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr12:75887400-75903000	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:75887600-75902400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:75887800-75902600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:75888000-75903000	Weak transcription	Pancreas	Pancrea
21	chr12:75888600-75903200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:75888800-75902200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:75888800-75903800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr12:75888800-75904200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:75890600-75903200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr12:75891400-75903800	Weak transcription	Fetal Brain Male	brain
27	chr12:75892400-75902400	Strong transcription	K562	blood
28	chr12:75892800-75904400	Weak transcription	Gastric	stomach
29	chr12:75893800-75903600	Weak transcription	Stomach Mucosa	stomach
30	chr12:75895400-75903000	Weak transcription	Ovary	ovary
31	chr12:75895400-75903800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:75895400-75903800	Weak transcription	Brain Substantia Nigra	brain
33	chr12:75895400-75904000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr12:75895400-75904200	Weak transcription	Right Ventricle	heart
35	chr12:75895400-75904400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr12:75895400-75904600	Weak transcription	Lung	lung
37	chr12:75895600-75904000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:75895800-75904800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:75896000-75903600	Weak transcription	Brain Angular Gyrus	brain
40	chr12:75896200-75904000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr12:75896400-75903800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr12:75896400-75904000	Weak transcription	Fetal Heart	heart
43	chr12:75896800-75903000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr12:75897000-75903000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr12:75897000-75903400	Weak transcription	Fetal Brain Female	brain
46	chr12:75897000-75903600	Weak transcription	Brain Hippocampus Middle	brain
47	chr12:75897000-75904000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr12:75897000-75904600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:75897200-75902800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:75897200-75903800	Weak transcription	Brain Anterior Caudate	brain

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