Variant report

Variant	rs528794429
Chromosome Location	chr12:32713453-32713454
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1054191	chr12:32534619-32733066	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv541455	chr12:32534619-32733066	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv3342938	chr12:32551041-32716745	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1037224	chr12:32698189-32721994	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv541456	chr12:32698189-32721994	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv973958	chr12:32712509-32726963	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32693000-32729600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:32698800-32719600	Weak transcription	Colonic Mucosa	Colon
3	chr12:32699600-32714800	Weak transcription	Fetal Intestine Large	intestine
4	chr12:32702000-32719400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:32702000-32719400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:32702800-32717200	Weak transcription	HUVEC	blood vessel
7	chr12:32703000-32717000	Weak transcription	HMEC	breast
8	chr12:32703000-32717200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:32703000-32719400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr12:32703200-32719000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:32704200-32719800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:32704600-32714600	Weak transcription	Fetal Heart	heart
13	chr12:32710000-32714400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:32710400-32715400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:32711000-32713800	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr12:32711000-32714000	Enhancers	Primary B cells from peripheral blood	blood
17	chr12:32711400-32714800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr12:32711400-32714800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:32711400-32715400	Enhancers	HepG2	liver
20	chr12:32711800-32714600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:32711800-32714800	Weak transcription	Pancreas	Pancrea
22	chr12:32711800-32714800	Weak transcription	HSMM	muscle
23	chr12:32711800-32717000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr12:32711800-32719800	Weak transcription	Gastric	stomach
25	chr12:32711800-32724800	Weak transcription	Fetal Brain Male	brain
26	chr12:32712000-32713800	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr12:32712000-32714600	Weak transcription	HSMMtube	muscle
28	chr12:32712000-32714800	Weak transcription	Fetal Stomach	stomach
29	chr12:32712000-32717000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr12:32712200-32717000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr12:32712200-32719000	Weak transcription	Aorta	Aorta
32	chr12:32712400-32713800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:32712600-32713600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:32712600-32713600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:32712600-32713600	Enhancers	Stomach Mucosa	stomach
36	chr12:32712600-32713800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:32712600-32713800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:32712600-32713800	Enhancers	Adipose Nuclei	Adipose
39	chr12:32712600-32738600	Weak transcription	Primary B cells from cord blood	blood
40	chr12:32712800-32713600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr12:32712800-32713800	Strong transcription	Fetal Intestine Small	intestine
42	chr12:32712800-32713800	Enhancers	Left Ventricle	heart
43	chr12:32712800-32713800	Enhancers	Psoas Muscle	Psoas
44	chr12:32712800-32714800	Weak transcription	Brain Germinal Matrix	brain
45	chr12:32712800-32715200	Enhancers	Lung	lung
46	chr12:32713000-32713600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:32713000-32713800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:32713000-32714600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr12:32713000-32714600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr12:32713000-32714600	Enhancers	Skeletal Muscle Male	skeletal muscle

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