Variant report

Variant	rs61921896
Chromosome Location	chr12:59284025-59284026
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:13)

rs_ID	r²[population]
rs11172814	1.00[EUR][1000 genomes]
rs11837539	0.83[EUR][1000 genomes]
rs12301978	0.83[EUR][1000 genomes]
rs12322708	0.83[EUR][1000 genomes]
rs17121655	1.00[EUR][1000 genomes]
rs17121690	1.00[EUR][1000 genomes]
rs17121692	1.00[EUR][1000 genomes]
rs17121696	1.00[EUR][1000 genomes]
rs60869355	0.83[EUR][1000 genomes]
rs61921895	0.87[EUR][1000 genomes]
rs61921899	0.83[EUR][1000 genomes]
rs61921902	0.86[EUR][1000 genomes]
rs748822	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758311	chr12:59022729-59323045	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2759902	chr12:59022729-59323045	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59260600-59284200	Strong transcription	HUVEC	blood vessel
2	chr12:59261400-59284200	Strong transcription	Rectal Mucosa Donor 29	rectum
3	chr12:59261600-59284200	Strong transcription	Rectal Mucosa Donor 31	rectum
4	chr12:59262600-59295000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:59264800-59284200	Strong transcription	Duodenum Mucosa	Duodenum
6	chr12:59265400-59284200	Strong transcription	Skeletal Muscle Female	skeletal muscle
7	chr12:59266000-59311000	Weak transcription	Fetal Thymus	thymus
8	chr12:59271600-59284600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:59271600-59284600	Strong transcription	Osteobl	bone
10	chr12:59272800-59285800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr12:59273600-59287000	Weak transcription	Stomach Mucosa	stomach
12	chr12:59273800-59289000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:59274800-59289000	Weak transcription	Right Ventricle	heart
14	chr12:59275000-59300800	Weak transcription	HSMMtube	muscle
15	chr12:59275200-59297800	Weak transcription	Hela-S3	cervix
16	chr12:59277400-59286000	Weak transcription	GM12878-XiMat	blood
17	chr12:59277800-59288800	Weak transcription	Right Atrium	heart
18	chr12:59279000-59286800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:59279000-59310800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr12:59279200-59290200	Weak transcription	Fetal Heart	heart
21	chr12:59279200-59309400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr12:59279800-59284200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr12:59280200-59287400	Weak transcription	Psoas Muscle	Psoas
24	chr12:59281000-59289400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr12:59281200-59287400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:59281400-59284200	Genic enhancers	NHEK	skin
27	chr12:59281400-59284600	Enhancers	Brain Anterior Caudate	brain
28	chr12:59281600-59284200	Enhancers	Brain Hippocampus Middle	brain
29	chr12:59281600-59284600	Enhancers	Brain Angular Gyrus	brain
30	chr12:59282200-59284200	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr12:59282200-59284200	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr12:59282200-59284600	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:59282200-59285600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr12:59282400-59284200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:59282400-59284200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:59282400-59284200	Strong transcription	Adipose Nuclei	Adipose
37	chr12:59282400-59284200	Strong transcription	Liver	Liver
38	chr12:59282400-59284400	Strong transcription	NHDF-Ad	bronchial
39	chr12:59282400-59286400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:59282400-59286800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr12:59282400-59287000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:59282400-59290200	Weak transcription	Fetal Brain Female	brain
43	chr12:59282400-59290600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:59282400-59297800	Weak transcription	A549	lung
45	chr12:59282800-59284600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:59282800-59287600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:59282800-59287800	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr12:59283400-59284200	Strong transcription	Fetal Lung	lung
49	chr12:59283400-59284800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:59283400-59298000	Weak transcription	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links