Variant report

Variant	rs12291497
Chromosome Location	chr11:36206011-36206012
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:36202112..36204050-chr11:36205831..36207575,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12271981	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12278309	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12289984	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12291281	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12291429	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12785650	1.00[AMR][1000 genomes]
rs12785670	0.87[ASW][hapmap];1.00[GIH][hapmap]
rs12785820	1.00[AMR][1000 genomes]
rs12786107	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12791048	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12792616	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12794494	1.00[AMR][1000 genomes]
rs12802388	1.00[GIH][hapmap]
rs12802606	1.00[AMR][1000 genomes]
rs12802983	1.00[AMR][1000 genomes]
rs12807726	1.00[AMR][1000 genomes]
rs12808224	0.87[ASW][hapmap];1.00[GIH][hapmap];0.82[LWK][hapmap];1.00[AMR][1000 genomes]
rs12808874	1.00[AMR][1000 genomes]
rs34016181	1.00[AMR][1000 genomes]
rs34860482	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34972611	1.00[AMR][1000 genomes]
rs35122223	1.00[AMR][1000 genomes]
rs35873090	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35999024	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36036155	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56860164	1.00[AMR][1000 genomes]
rs60598097	0.83[AMR][1000 genomes]
rs61518528	0.83[AMR][1000 genomes]
rs66503254	1.00[AMR][1000 genomes]
rs73437288	0.83[AMR][1000 genomes]
rs7938873	1.00[GIH][hapmap]
rs953124	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs953125	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv897225	chr11:36136912-36244190	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36184400-36220000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:36184800-36206200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:36185200-36207800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr11:36186400-36207600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:36188000-36213600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:36198000-36207000	Weak transcription	Fetal Stomach	stomach
7	chr11:36198000-36207200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:36198200-36207000	Weak transcription	NHEK	skin
9	chr11:36198400-36207000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:36198400-36207000	Weak transcription	Fetal Muscle Leg	muscle
11	chr11:36199800-36207200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:36200400-36223800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr11:36201200-36207600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:36201400-36217400	Weak transcription	Ovary	ovary
15	chr11:36202200-36217200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:36203400-36207200	Weak transcription	Brain Germinal Matrix	brain
17	chr11:36203400-36218000	Weak transcription	NHLF	lung
18	chr11:36204200-36206600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr11:36204200-36207600	Weak transcription	Fetal Lung	lung
20	chr11:36204400-36207000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr11:36204400-36211400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:36204400-36211400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:36204400-36213800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:36204400-36217200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr11:36204600-36207000	Weak transcription	Fetal Heart	heart
26	chr11:36204600-36212600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:36204800-36207200	Weak transcription	HSMMtube	muscle
28	chr11:36204800-36209200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:36204800-36215000	Weak transcription	Brain Substantia Nigra	brain
30	chr11:36204800-36217400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:36205200-36207600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:36205400-36207600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:36205400-36208200	Weak transcription	Gastric	stomach
34	chr11:36206000-36206200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:36206000-36206200	Strong transcription	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links