Variant report

Variant	rs546180874
Chromosome Location	chr12:31741745-31741746
allele	C/T
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	POLR2A	chr12:31737848-31743421	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:31741307..31745552-chr12:31748528..31751513,3	MCF-7	breast:
2	chr12:31740065..31741913-chr12:31741979..31745084,3	K562	blood:
3	chr12:31739424..31741927-chr12:31747863..31749994,2	K562	blood:
4	chr12:31740792..31743101-chr12:31745770..31747885,3	MCF-7	breast:

Variant related genes	Relation type
DENND5B-AS1	TF binding region
ENSG00000231788	Chromatin interaction
ENSG00000170456	Chromatin interaction
ENSG00000252390	Chromatin interaction
ENSG00000255867	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv1836923	chr12:31539122-31761172	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv898965	chr12:31631819-31771689	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv832365	chr12:31642811-31808532	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv1842653	chr12:31670378-31744033	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv1797962	chr12:31733044-31761172	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv3371967	chr12:31741685-31745983	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31721600-31742400	Weak transcription	Aorta	Aorta
2	chr12:31726400-31742000	Weak transcription	Fetal Intestine Large	intestine
3	chr12:31728400-31741800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:31737800-31741800	Flanking Active TSS	GM12878-XiMat	blood
5	chr12:31738400-31742400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:31738400-31742600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:31738400-31742600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:31738400-31742600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:31738400-31742600	Weak transcription	Lung	lung
10	chr12:31738600-31741800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:31738600-31741800	Weak transcription	NHDF-Ad	bronchial
12	chr12:31738600-31742200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:31738600-31742400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:31738600-31742400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:31738600-31742600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:31738800-31741800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr12:31738800-31741800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr12:31738800-31741800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:31738800-31741800	Weak transcription	NHLF	lung
20	chr12:31738800-31742000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:31738800-31742600	Weak transcription	Small Intestine	intestine
22	chr12:31739000-31742000	Weak transcription	HSMM	muscle
23	chr12:31739000-31742000	Weak transcription	NHEK	skin
24	chr12:31739000-31742400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr12:31739400-31742000	Weak transcription	Fetal Stomach	stomach
26	chr12:31739400-31742400	Enhancers	Stomach Mucosa	stomach
27	chr12:31739800-31742000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:31739800-31742000	Weak transcription	Fetal Intestine Small	intestine
29	chr12:31740000-31742600	Weak transcription	Gastric	stomach
30	chr12:31740200-31741800	Enhancers	Primary B cells from cord blood	blood
31	chr12:31740200-31742200	Enhancers	Primary B cells from peripheral blood	blood
32	chr12:31740600-31741800	Enhancers	HepG2	liver
33	chr12:31740800-31742000	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr12:31741000-31741800	Enhancers	Psoas Muscle	Psoas
35	chr12:31741000-31742000	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr12:31741000-31742000	Enhancers	Liver	Liver
37	chr12:31741000-31742000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr12:31741000-31742000	Enhancers	Colon Smooth Muscle	Colon
39	chr12:31741000-31742000	Enhancers	Fetal Heart	heart
40	chr12:31741000-31742000	Enhancers	Right Ventricle	heart
41	chr12:31741000-31742000	Enhancers	NH-A	brain
42	chr12:31741000-31742200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr12:31741000-31742200	Enhancers	Fetal Brain Male	brain
44	chr12:31741000-31742400	Enhancers	Brain Substantia Nigra	brain
45	chr12:31741200-31741800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:31741200-31742000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:31741200-31742600	Weak transcription	Pancreas	Pancrea
48	chr12:31741400-31741800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr12:31741400-31741800	Active TSS	Fetal Brain Female	brain
50	chr12:31741400-31741800	Enhancers	Rectal Smooth Muscle	rectum

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