Variant report

Variant	rs73301595
Chromosome Location	chr12:32661850-32661851
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57318963	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7133663	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7312178	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303511	1.00[AMR][1000 genomes]
rs73303524	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303600	1.00[AMR][1000 genomes]
rs73305519	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv898970	chr12:32622097-32680236	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32655200-32686000	Weak transcription	Lung	lung
2	chr12:32656000-32666000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr12:32656000-32668000	Weak transcription	Fetal Thymus	thymus
4	chr12:32656200-32662600	Weak transcription	HepG2	liver
5	chr12:32656200-32668000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:32656400-32685800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:32657200-32662200	Enhancers	Fetal Heart	heart
8	chr12:32658600-32667800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:32658600-32682000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr12:32659200-32664400	Weak transcription	NHEK	skin
11	chr12:32659400-32665800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:32659400-32667000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr12:32659600-32662600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:32659600-32662600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:32659600-32663400	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr12:32659600-32668000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr12:32659600-32675200	Weak transcription	Fetal Stomach	stomach
18	chr12:32659800-32662800	Weak transcription	Fetal Intestine Large	intestine
19	chr12:32659800-32665400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr12:32659800-32669000	Weak transcription	Brain Hippocampus Middle	brain
21	chr12:32660200-32662200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr12:32660400-32662000	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr12:32660400-32662200	Enhancers	Stomach Mucosa	stomach
24	chr12:32660600-32662600	Weak transcription	Fetal Intestine Small	intestine
25	chr12:32660600-32664200	Enhancers	Liver	Liver
26	chr12:32660800-32662000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:32660800-32662000	Enhancers	Fetal Lung	lung
28	chr12:32660800-32662000	Enhancers	Ovary	ovary
29	chr12:32660800-32662000	Enhancers	Right Atrium	heart
30	chr12:32660800-32663000	Enhancers	Left Ventricle	heart
31	chr12:32661000-32663800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:32661000-32668000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr12:32661000-32668000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr12:32661200-32662000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr12:32661200-32662000	Weak transcription	Fetal Brain Female	brain
36	chr12:32661200-32662600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr12:32661200-32662800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:32661200-32662800	Weak transcription	Brain Anterior Caudate	brain
39	chr12:32661200-32663000	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr12:32661200-32665400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr12:32661200-32668200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr12:32661200-32675600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr12:32661400-32662000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:32661400-32668200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr12:32661400-32668800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr12:32661600-32662000	Enhancers	Fetal Brain Male	brain
47	chr12:32661600-32662600	Weak transcription	Brain Substantia Nigra	brain
48	chr12:32661600-32662600	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr12:32661600-32665200	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr12:32661600-32668000	Weak transcription	HUVEC	blood vessel

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