Variant report

Variant	rs12294357
Chromosome Location	chr11:36295185-36295186
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10836525	0.98[EUR][1000 genomes]
rs11033520	0.98[EUR][1000 genomes]
rs12272725	0.98[EUR][1000 genomes]
rs12274512	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12275072	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12278582	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282145	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12283981	0.92[EUR][1000 genomes]
rs12285631	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12285953	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12286007	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12286010	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12286643	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12292727	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12293902	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289984	0.98[EUR][1000 genomes]
rs2289985	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36280400-36299000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:36280800-36300200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:36282200-36302000	Weak transcription	NHEK	skin
4	chr11:36283000-36298000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr11:36283200-36300000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:36287600-36295400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr11:36287600-36304800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr11:36288000-36310200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:36288400-36295200	Weak transcription	NHLF	lung
10	chr11:36288400-36304600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:36289200-36299800	Weak transcription	HepG2	liver
12	chr11:36289200-36300000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr11:36290600-36296800	Strong transcription	Fetal Brain Female	brain
14	chr11:36290800-36310400	Weak transcription	Stomach Mucosa	stomach
15	chr11:36291000-36298200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr11:36291000-36298400	Strong transcription	Fetal Stomach	stomach
17	chr11:36291000-36301200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:36291000-36301800	Weak transcription	Right Atrium	heart
19	chr11:36291200-36296800	Strong transcription	Brain Cingulate Gyrus	brain
20	chr11:36291200-36298000	Strong transcription	Spleen	Spleen
21	chr11:36291200-36299000	Strong transcription	Adipose Nuclei	Adipose
22	chr11:36291200-36299000	Strong transcription	Ovary	ovary
23	chr11:36291200-36299200	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr11:36291200-36299400	Strong transcription	Brain Angular Gyrus	brain
25	chr11:36291200-36299400	Strong transcription	Brain Hippocampus Middle	brain
26	chr11:36291200-36302200	Strong transcription	Stomach Smooth Muscle	stomach
27	chr11:36291200-36302400	Strong transcription	Primary T cells from cord blood	blood
28	chr11:36291200-36302800	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr11:36291400-36295400	Weak transcription	Hela-S3	cervix
30	chr11:36291400-36298400	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr11:36291400-36298800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:36291400-36303000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr11:36291600-36295400	Weak transcription	GM12878-XiMat	blood
34	chr11:36291800-36301200	Strong transcription	Fetal Intestine Large	intestine
35	chr11:36291800-36302200	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr11:36292000-36296800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:36292000-36296800	Strong transcription	Brain Substantia Nigra	brain
38	chr11:36292000-36298000	Weak transcription	NH-A	brain
39	chr11:36292000-36298200	Strong transcription	Brain Anterior Caudate	brain
40	chr11:36292000-36298200	Strong transcription	Brain Germinal Matrix	brain
41	chr11:36292000-36298200	Strong transcription	Thymus	Thymus
42	chr11:36292000-36298800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:36292000-36299000	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr11:36292000-36302000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr11:36292000-36302400	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr11:36292000-36303200	Strong transcription	Primary B cells from cord blood	blood
47	chr11:36292000-36309600	Weak transcription	Psoas Muscle	Psoas
48	chr11:36292200-36296400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:36292200-36296400	Strong transcription	HSMM	muscle
50	chr11:36292200-36296600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links