Variant report

Variant	rs11052081
Chromosome Location	chr12:32720678-32720679
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10506094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10844245	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10844246	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10844248	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11052070	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11052071	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11052072	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11052073	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11052076	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11052079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11052082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052083	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11052085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11052087	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11052088	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11052092	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16920058	0.95[ASN][1000 genomes]
rs17538775	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1909509	0.95[ASN][1000 genomes]
rs35861269	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4525322	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4931019	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4931028	0.91[EUR][1000 genomes]
rs73081434	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73081435	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73081444	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73081467	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73100149	0.82[AMR][1000 genomes];1.00[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	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	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
3	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
4	nsv1037224	chr12:32698189-32721994	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv541456	chr12:32698189-32721994	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv973958	chr12:32712509-32726963	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32693000-32729600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:32711800-32724800	Weak transcription	Fetal Brain Male	brain
3	chr12:32712600-32738600	Weak transcription	Primary B cells from cord blood	blood
4	chr12:32713000-32780400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:32713400-32796200	Weak transcription	Fetal Lung	lung
6	chr12:32713800-32738400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:32714000-32740600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr12:32715200-32722200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr12:32715200-32735000	Weak transcription	Placenta	Placenta
10	chr12:32715200-32753800	Weak transcription	Fetal Brain Female	brain
11	chr12:32715200-32760200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:32715400-32730600	Weak transcription	Fetal Stomach	stomach
13	chr12:32717000-32722200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:32717000-32723000	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr12:32717000-32723000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr12:32717000-32723600	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr12:32717400-32722200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:32717400-32722200	Enhancers	Brain Anterior Caudate	brain
19	chr12:32717800-32721200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:32718200-32722600	Enhancers	Brain Angular Gyrus	brain
21	chr12:32718200-32722800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr12:32718400-32721000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr12:32718400-32722600	Enhancers	Stomach Mucosa	stomach
24	chr12:32718600-32721200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:32718600-32722600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr12:32718600-32722600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:32718800-32722600	Enhancers	Brain Cingulate Gyrus	brain
28	chr12:32719000-32720800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:32719000-32720800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:32719000-32720800	Genic enhancers	Fetal Muscle Leg	muscle
31	chr12:32719000-32721000	Enhancers	Duodenum Mucosa	Duodenum
32	chr12:32719000-32721000	Enhancers	Fetal Intestine Small	intestine
33	chr12:32719000-32721000	Enhancers	Left Ventricle	heart
34	chr12:32719000-32721000	Enhancers	Right Atrium	heart
35	chr12:32719000-32721000	Enhancers	Right Ventricle	heart
36	chr12:32719000-32722600	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr12:32719000-32723000	Enhancers	NHEK	skin
38	chr12:32719200-32720800	Enhancers	Fetal Intestine Large	intestine
39	chr12:32719200-32722400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr12:32719200-32722400	Enhancers	HUVEC	blood vessel
41	chr12:32719400-32721000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:32719400-32722200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:32719400-32722400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:32719400-32722400	Enhancers	Brain Germinal Matrix	brain
45	chr12:32719400-32722600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:32719400-32722600	Enhancers	NH-A	brain
47	chr12:32719400-32723000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:32719400-32723000	Enhancers	HMEC	breast
49	chr12:32719600-32721200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:32719600-32721200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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