Variant report

Variant	rs34483615
Chromosome Location	chr12:56715645-56715646
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	chr12:56715565-56715960	A549	lung:	n/a	chr12:56715585-56715596
2	CEBPB	chr12:56715499-56715781	H1-hESC	embryonic stem cell:	n/a	chr12:56715585-56715596
3	CEBPB	chr12:56715503-56715966	Hela-S3	cervix:	n/a	chr12:56715585-56715596
4	CEBPB	chr12:56715485-56715721	HepG2	liver:	n/a	chr12:56715585-56715596
5	CEBPB	chr12:56715473-56715845	K562	blood:	n/a	chr12:56715585-56715596
6	CEBPB	chr12:56715478-56715759	IMR90	lung:	n/a	chr12:56715585-56715596
7	CEBPB	chr12:56715577-56715807	ECC-1	luminal epithelium:	n/a	chr12:56715585-56715596
8	CEBPB	chr12:56715472-56715782	A549	lung:	n/a	chr12:56715585-56715596
9	CEBPB	chr12:56715488-56715724	K562	blood:	n/a	chr12:56715585-56715596
10	CEBPB	chr12:56715490-56715831	K562	blood:	n/a	chr12:56715585-56715596
11	CEBPB	chr12:56715536-56715656	HepG2	liver:	n/a	chr12:56715585-56715596

No.	Distal block	Cell Line	Cell type
1	chr12:56714784..56717447-chr12:56726555..56728691,3	K562	blood:
2	chr12:56707850..56716783-chr12:56721562..56730442,13	MCF-7	breast:
3	chr12:56710492..56713076-chr12:56713802..56716464,2	MCF-7	breast:
4	chr12:56714972..56719227-chr12:56860901..56862515,3	MCF-7	breast:
5	chr12:56707245..56710317-chr12:56714317..56717689,3	MCF-7	breast:

Variant related genes	Relation type
PAN2	TF binding region
ENSG00000257727	Chromatin interaction
ENSG00000144785	Chromatin interaction
ENSG00000176422	Chromatin interaction
ENSG00000135473	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12831884	1.00[AFR][1000 genomes]
rs34026747	1.00[AFR][1000 genomes]
rs3816804	1.00[AFR][1000 genomes]
rs71459362	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56710200-56716600	Weak transcription	Small Intestine	intestine
2	chr12:56710600-56715800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:56710600-56715800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr12:56710600-56715800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr12:56710600-56716200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:56710600-56716200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr12:56710600-56716400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:56710600-56717400	Weak transcription	Fetal Heart	heart
9	chr12:56710600-56717800	Weak transcription	Stomach Mucosa	stomach
10	chr12:56710600-56718200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:56710600-56726800	Weak transcription	NH-A	brain
12	chr12:56710800-56715800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:56710800-56716200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr12:56710800-56719000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:56710800-56726400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr12:56710800-56726600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr12:56711000-56717400	Weak transcription	Psoas Muscle	Psoas
18	chr12:56711000-56718400	Weak transcription	Hela-S3	cervix
19	chr12:56711000-56722400	Strong transcription	Fetal Muscle Trunk	muscle
20	chr12:56711000-56722600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:56711000-56722800	Strong transcription	Fetal Muscle Leg	muscle
22	chr12:56711200-56722400	Strong transcription	Fetal Stomach	stomach
23	chr12:56711400-56721400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:56711400-56722600	Strong transcription	Liver	Liver
25	chr12:56711400-56726600	Weak transcription	Fetal Brain Male	brain
26	chr12:56711600-56719000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:56711600-56721800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:56711600-56722600	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr12:56711600-56722800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr12:56711800-56722800	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr12:56712000-56722400	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr12:56712000-56722600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:56712000-56722600	Strong transcription	Stomach Smooth Muscle	stomach
34	chr12:56712000-56722800	Strong transcription	Fetal Intestine Large	intestine
35	chr12:56712000-56722800	Strong transcription	Placenta	Placenta
36	chr12:56712000-56724000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr12:56712200-56721400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:56712200-56722400	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr12:56712200-56722600	Strong transcription	Primary B cells from cord blood	blood
40	chr12:56712600-56722400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:56712600-56722600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr12:56712600-56722600	Strong transcription	Brain Inferior Temporal Lobe	brain
43	chr12:56712600-56722600	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr12:56712600-56722600	Strong transcription	Thymus	Thymus
45	chr12:56712800-56720400	Strong transcription	Left Ventricle	heart
46	chr12:56712800-56721200	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr12:56712800-56722400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:56712800-56722600	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr12:56712800-56722600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:56712800-56722600	Strong transcription	Fetal Intestine Small	intestine

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