Variant report

Variant	rs11173101
Chromosome Location	chr12:60005961-60005962
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10506397	0.80[ASN][1000 genomes]
rs10877321	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10877323	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10877324	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11173102	0.84[ASN][1000 genomes]
rs11173108	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17122696	0.84[ASN][1000 genomes]
rs17122775	0.80[ASN][1000 genomes]
rs4304824	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7965740	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs982322	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv899131	chr12:59942122-60124089	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1048949	chr12:59974039-60041477	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1038100	chr12:59983391-60018745	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59991400-60009400	Weak transcription	Gastric	stomach
2	chr12:59991600-60009400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr12:59992600-60013400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:60002200-60006000	ZNF genes & repeats	Dnd41	blood
5	chr12:60003600-60007600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
6	chr12:60004200-60007200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
7	chr12:60004400-60006200	ZNF genes & repeats	Primary T cells from cord blood	blood
8	chr12:60004400-60006200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
9	chr12:60004400-60006200	ZNF genes & repeats	NHDF-Ad	bronchial
10	chr12:60004400-60006400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
11	chr12:60004400-60006800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
12	chr12:60004400-60007000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:60004400-60007200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:60004400-60007400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:60004400-60007800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:60004400-60007800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
17	chr12:60004600-60006000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:60004600-60006000	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr12:60004600-60006000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:60004600-60006400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:60004600-60006400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
22	chr12:60004600-60006400	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:60004600-60006800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
24	chr12:60004600-60007600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:60004600-60007600	ZNF genes & repeats	Primary B cells from cord blood	blood
26	chr12:60004600-60008000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
27	chr12:60004800-60006400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:60004800-60006800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:60004800-60006800	ZNF genes & repeats	Adipose Nuclei	Adipose
30	chr12:60005000-60006000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr12:60005000-60006200	ZNF genes & repeats	Pancreas	Pancrea
32	chr12:60005000-60006200	ZNF genes & repeats	NHLF	lung
33	chr12:60005000-60006400	ZNF genes & repeats	Left Ventricle	heart
34	chr12:60005000-60006400	ZNF genes & repeats	Lung	lung
35	chr12:60005000-60007000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
36	chr12:60005000-60011800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr12:60005200-60006000	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr12:60005200-60007400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:60005400-60006200	ZNF genes & repeats	Thymus	Thymus
40	chr12:60005400-60006600	Weak transcription	Fetal Heart	heart
41	chr12:60005600-60006000	ZNF genes & repeats	Fetal Thymus	thymus
42	chr12:60005600-60006200	ZNF genes & repeats	Fetal Intestine Small	intestine
43	chr12:60005600-60006200	ZNF genes & repeats	Fetal Stomach	stomach
44	chr12:60005600-60006200	ZNF genes & repeats	Ovary	ovary
45	chr12:60005600-60006800	ZNF genes & repeats	Aorta	Aorta
46	chr12:60005600-60006800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
47	chr12:60005600-60007400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:60005800-60006200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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