Variant report

Variant	rs12417496
Chromosome Location	chr11:36185448-36185449
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1014357	1.00[CHB][hapmap];0.87[CHD][hapmap];0.82[MEX][hapmap];0.87[ASN][1000 genomes]
rs10836513	0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs10836514	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11033473	0.90[CHD][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs11033476	0.87[ASN][1000 genomes]
rs11033477	0.87[ASN][1000 genomes]
rs11033478	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs11499817	0.86[ASN][1000 genomes]
rs12269916	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12278757	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs12282945	0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs12417511	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420381	0.87[ASN][1000 genomes]
rs12575549	0.86[ASN][1000 genomes]
rs12576371	1.00[CHB][hapmap];0.94[JPT][hapmap];0.99[ASN][1000 genomes]
rs16926221	0.84[CHB][hapmap];0.88[JPT][hapmap]
rs35567395	0.89[ASN][1000 genomes]
rs4612777	1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[MEX][hapmap];0.93[ASN][1000 genomes]
rs4755439	0.87[CHD][hapmap];0.83[ASN][1000 genomes]
rs4756291	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4756292	0.87[ASN][1000 genomes]
rs55659003	0.80[ASN][1000 genomes]
rs59459290	0.87[ASN][1000 genomes]
rs6416082	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6416083	0.87[ASN][1000 genomes]
rs7117510	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7121939	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72935599	0.87[ASN][1000 genomes]
rs72935601	0.87[ASN][1000 genomes]
rs7929112	0.98[ASN][1000 genomes]
rs7933303	0.93[ASN][1000 genomes]
rs7943467	0.85[ASN][1000 genomes]
rs7943612	0.93[ASN][1000 genomes]
rs7948709	0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs7951966	0.87[CHD][hapmap];0.94[JPT][hapmap];0.88[ASN][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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36171600-36187800	Weak transcription	Spleen	Spleen
2	chr11:36172600-36190400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:36178200-36186000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:36178200-36187200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:36179200-36185600	Weak transcription	NHEK	skin
6	chr11:36179400-36185600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:36179400-36185800	Weak transcription	HSMM	muscle
8	chr11:36179600-36193000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:36181200-36187800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr11:36181200-36188000	Enhancers	Fetal Lung	lung
11	chr11:36181400-36186400	Enhancers	Fetal Muscle Leg	muscle
12	chr11:36181800-36185600	Weak transcription	Lung	lung
13	chr11:36183000-36187800	Enhancers	Fetal Stomach	stomach
14	chr11:36183200-36186400	Enhancers	HSMMtube	muscle
15	chr11:36183400-36187800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr11:36183800-36185600	Flanking Active TSS	Fetal Brain Female	brain
17	chr11:36183800-36185600	Enhancers	Fetal Kidney	kidney
18	chr11:36183800-36185800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:36183800-36185800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:36183800-36186000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:36183800-36186200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:36183800-36186400	Enhancers	Ovary	ovary
23	chr11:36184000-36185800	Enhancers	Brain Anterior Caudate	brain
24	chr11:36184000-36186400	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr11:36184000-36186400	Enhancers	Right Atrium	heart
26	chr11:36184200-36185800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:36184200-36185800	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr11:36184200-36185800	Weak transcription	NHLF	lung
29	chr11:36184200-36186000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:36184400-36185600	Weak transcription	NHDF-Ad	bronchial
31	chr11:36184400-36186400	Enhancers	Brain Angular Gyrus	brain
32	chr11:36184400-36186800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr11:36184400-36189200	Weak transcription	Pancreas	Pancrea
34	chr11:36184400-36220000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:36184600-36185800	Weak transcription	Gastric	stomach
36	chr11:36184600-36185800	Weak transcription	Psoas Muscle	Psoas
37	chr11:36184600-36186200	Enhancers	Fetal Intestine Large	intestine
38	chr11:36184600-36186400	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr11:36184600-36188400	Enhancers	HUVEC	blood vessel
40	chr11:36184800-36185800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:36184800-36186000	Weak transcription	Brain Hippocampus Middle	brain
42	chr11:36184800-36206200	Weak transcription	Fetal Muscle Trunk	muscle
43	chr11:36185000-36186000	Weak transcription	Left Ventricle	heart
44	chr11:36185000-36186000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr11:36185000-36186400	Enhancers	Fetal Brain Male	brain
46	chr11:36185000-36186400	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr11:36185000-36187200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:36185000-36187400	Weak transcription	Small Intestine	intestine
49	chr11:36185200-36185600	Enhancers	Fetal Heart	heart
50	chr11:36185200-36186200	Weak transcription	Adipose Nuclei	Adipose

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