Variant report

Variant	rs2102043
Chromosome Location	chr12:32721868-32721869
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10844246	0.89[EUR][1000 genomes]
rs10844248	0.89[EUR][1000 genomes]
rs11052078	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11052083	0.88[EUR][1000 genomes]
rs11052084	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11052087	0.92[ASN][1000 genomes]
rs11052088	0.92[ASN][1000 genomes]
rs16920058	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17538775	0.97[ASN][1000 genomes]
rs1909509	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35861269	0.89[EUR][1000 genomes]
rs4931019	0.87[ASN][1000 genomes]
rs61926167	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6488066	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73081434	0.87[EUR][1000 genomes]
rs73081435	0.88[EUR][1000 genomes]
rs73081467	0.92[ASN][1000 genomes]
rs73100149	0.89[EUR][1000 genomes]
rs7313539	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7961549	0.93[AMR][1000 genomes];1.00[EUR][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	chr12:32718200-32722600	Enhancers	Brain Angular Gyrus	brain
20	chr12:32718200-32722800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr12:32718400-32722600	Enhancers	Stomach Mucosa	stomach
22	chr12:32718600-32722600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr12:32718600-32722600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:32718800-32722600	Enhancers	Brain Cingulate Gyrus	brain
25	chr12:32719000-32722600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr12:32719000-32723000	Enhancers	NHEK	skin
27	chr12:32719200-32722400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr12:32719200-32722400	Enhancers	HUVEC	blood vessel
29	chr12:32719400-32722200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:32719400-32722400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:32719400-32722400	Enhancers	Brain Germinal Matrix	brain
32	chr12:32719400-32722600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:32719400-32722600	Enhancers	NH-A	brain
34	chr12:32719400-32723000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:32719400-32723000	Enhancers	HMEC	breast
36	chr12:32719600-32722400	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr12:32719600-32722600	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr12:32719600-32722600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:32719600-32722600	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr12:32719600-32722600	Enhancers	Adipose Nuclei	Adipose
41	chr12:32719600-32722600	Enhancers	NHDF-Ad	bronchial
42	chr12:32719800-32722000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:32719800-32722400	Enhancers	Osteobl	bone
44	chr12:32719800-32722600	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr12:32719800-32722600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:32719800-32722600	Enhancers	Hela-S3	cervix
47	chr12:32719800-32722600	Enhancers	HSMM	muscle
48	chr12:32719800-32741400	Weak transcription	Spleen	Spleen
49	chr12:32720000-32722600	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr12:32720000-32728000	Weak transcription	Liver	Liver

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