Variant report

Variant	rs2948123
Chromosome Location	chr12:121749561-121749562
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11065526	0.83[EUR][1000 genomes]
rs12579382	0.90[ASN][1000 genomes]
rs2001701	0.86[ASN][1000 genomes]
rs2007651	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2280067	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2461474	0.84[ASN][1000 genomes]
rs2686350	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2686356	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2686358	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2686359	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2942064	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2942065	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2942067	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2948127	0.84[ASN][1000 genomes]
rs2948129	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2948132	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs3751162	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59997381	0.86[ASN][1000 genomes]
rs7134657	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7297531	0.80[ASN][1000 genomes]
rs7971785	0.84[ASN][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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv1048801	chr12:121695522-121761800	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121735600-121755600	Weak transcription	Brain Angular Gyrus	brain
2	chr12:121735600-121755800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:121735600-121755800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:121735600-121755800	Weak transcription	Aorta	Aorta
5	chr12:121735600-121755800	Weak transcription	Esophagus	oesophagus
6	chr12:121735800-121754000	Weak transcription	Fetal Kidney	kidney
7	chr12:121735800-121755800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:121735800-121755800	Weak transcription	Right Ventricle	heart
9	chr12:121735800-121756000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:121735800-121764200	Weak transcription	Fetal Heart	heart
11	chr12:121736000-121761200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:121738400-121755800	Weak transcription	Psoas Muscle	Psoas
13	chr12:121741400-121754000	Weak transcription	HepG2	liver
14	chr12:121742400-121754800	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:121742600-121766200	Weak transcription	Fetal Brain Male	brain
16	chr12:121744000-121763600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:121744200-121783400	Weak transcription	Stomach Mucosa	stomach
18	chr12:121744600-121750000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr12:121744800-121754000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr12:121745000-121750200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:121745000-121752800	Strong transcription	Fetal Intestine Small	intestine
22	chr12:121745200-121749800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:121745200-121750400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:121745200-121750600	Strong transcription	Fetal Thymus	thymus
25	chr12:121745200-121751000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:121745400-121750200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:121745400-121750200	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr12:121745400-121752800	Strong transcription	Fetal Stomach	stomach
29	chr12:121745600-121749800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:121745600-121749800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:121745600-121749800	Strong transcription	Hela-S3	cervix
32	chr12:121745600-121750000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:121745600-121750000	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr12:121745600-121750000	Strong transcription	Liver	Liver
35	chr12:121745600-121750200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:121745600-121750200	Strong transcription	Fetal Muscle Trunk	muscle
37	chr12:121745600-121750200	Strong transcription	Fetal Muscle Leg	muscle
38	chr12:121745600-121750400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr12:121745600-121750400	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr12:121745600-121750400	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr12:121745600-121750600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:121745600-121750800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:121745600-121750800	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr12:121745600-121751000	Strong transcription	Thymus	Thymus
45	chr12:121745600-121751400	Strong transcription	Primary B cells from peripheral blood	blood
46	chr12:121745600-121751400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr12:121745600-121751800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:121745600-121753400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:121745800-121749600	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr12:121745800-121749600	Strong transcription	Rectal Mucosa Donor 29	rectum

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