Variant report

Variant	rs2733697
Chromosome Location	chr12:32554417-32554418
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12425397	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12425634	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2651364	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2728667	0.84[EUR][1000 genomes]
rs2733681	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2733695	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2733699	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73296053	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73296057	1.00[EUR][1000 genomes]
rs73296079	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv558171	chr12:32287259-32559693	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv469346	chr12:32531220-32587465	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv558188	chr12:32531220-32587465	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32551200-32554800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:32551800-32554600	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr12:32551800-32554800	Active TSS	H1 Cell Line	embryonic stem cell
4	chr12:32551800-32555200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:32552000-32554600	Active TSS	Stomach Mucosa	stomach
6	chr12:32552000-32554800	Active TSS	Fetal Intestine Small	intestine
7	chr12:32552000-32555200	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr12:32552000-32555400	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr12:32552200-32554600	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr12:32552200-32554600	Active TSS	Rectal Mucosa Donor 31	rectum
11	chr12:32552200-32554600	Active TSS	HMEC	breast
12	chr12:32553000-32554800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:32553200-32555600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:32553400-32555200	Active TSS	Duodenum Mucosa	Duodenum
15	chr12:32553400-32555200	Weak transcription	Lung	lung
16	chr12:32553400-32572200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:32553400-32572200	Weak transcription	HSMMtube	muscle
18	chr12:32553400-32572400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:32553600-32554800	Enhancers	Liver	Liver
20	chr12:32553600-32555000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:32553600-32555200	Weak transcription	Gastric	stomach
22	chr12:32553600-32555200	Weak transcription	Pancreas	Pancrea
23	chr12:32553600-32556000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr12:32553600-32572600	Weak transcription	Esophagus	oesophagus
25	chr12:32553800-32554600	Active TSS	Adipose Nuclei	Adipose
26	chr12:32553800-32554600	Enhancers	HepG2	liver
27	chr12:32553800-32556000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:32553800-32571600	Weak transcription	Left Ventricle	heart
29	chr12:32554000-32554800	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr12:32554000-32555200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr12:32554000-32555200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr12:32554000-32572200	Weak transcription	Right Ventricle	heart
33	chr12:32554200-32554600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:32554200-32554600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:32554200-32554600	Enhancers	Brain Hippocampus Middle	brain
36	chr12:32554200-32555000	Weak transcription	HUVEC	blood vessel
37	chr12:32554200-32555200	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr12:32554200-32555600	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr12:32554200-32556000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr12:32554200-32556000	Enhancers	NHEK	skin
41	chr12:32554200-32559600	Weak transcription	A549	lung
42	chr12:32554200-32561200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr12:32554200-32566400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr12:32554200-32571800	Weak transcription	Ovary	ovary
45	chr12:32554200-32573800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:32554400-32554600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:32554400-32554600	Bivalent Enhancer	Fetal Intestine Large	intestine
48	chr12:32554400-32554600	Bivalent Enhancer	Fetal Thymus	thymus
49	chr12:32554400-32554600	Enhancers	Placenta Amnion	Placenta Amnion
50	chr12:32554400-32554800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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