Variant report

Variant	rs17121655
Chromosome Location	chr12:59279529-59279530
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	chr12:59271162..59273310-chr12:59279369..59281964,2	K562	blood:
2	chr12:59278745..59280496-chr12:59282070..59283730,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139263	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10506360	0.84[AMR][1000 genomes]
rs11172776	0.88[AMR][1000 genomes]
rs11172781	0.88[AMR][1000 genomes]
rs11172785	0.88[AMR][1000 genomes]
rs11172814	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11837539	0.83[EUR][1000 genomes]
rs12301978	0.83[EUR][1000 genomes]
rs12322708	1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs17121690	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17121692	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[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17121696	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[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60869355	0.83[EUR][1000 genomes]
rs61921895	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61921896	1.00[EUR][1000 genomes]
rs61921899	0.83[EUR][1000 genomes]
rs61921902	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs748822	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[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758311	chr12:59022729-59323045	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2759902	chr12:59022729-59323045	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59260600-59284200	Strong transcription	HUVEC	blood vessel
2	chr12:59261400-59284200	Strong transcription	Rectal Mucosa Donor 29	rectum
3	chr12:59261600-59284200	Strong transcription	Rectal Mucosa Donor 31	rectum
4	chr12:59261800-59280800	Strong transcription	Fetal Intestine Large	intestine
5	chr12:59262600-59295000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:59263400-59281400	Strong transcription	NHEK	skin
7	chr12:59264800-59284200	Strong transcription	Duodenum Mucosa	Duodenum
8	chr12:59265400-59284200	Strong transcription	Skeletal Muscle Female	skeletal muscle
9	chr12:59266000-59282000	Strong transcription	Adipose Nuclei	Adipose
10	chr12:59266000-59311000	Weak transcription	Fetal Thymus	thymus
11	chr12:59266200-59284000	Strong transcription	Fetal Muscle Trunk	muscle
12	chr12:59266400-59284000	Strong transcription	Fetal Muscle Leg	muscle
13	chr12:59267800-59281600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:59271600-59280400	Strong transcription	Liver	Liver
15	chr12:59271600-59281400	Strong transcription	HMEC	breast
16	chr12:59271600-59282000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:59271600-59282000	Strong transcription	NHDF-Ad	bronchial
18	chr12:59271600-59284600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:59271600-59284600	Strong transcription	Osteobl	bone
20	chr12:59271800-59281400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:59271800-59284000	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr12:59272000-59282000	Strong transcription	NHLF	lung
23	chr12:59272200-59281400	Strong transcription	NH-A	brain
24	chr12:59272800-59285800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr12:59273000-59281400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr12:59273200-59283400	Weak transcription	Esophagus	oesophagus
27	chr12:59273400-59281200	Weak transcription	Brain Hippocampus Middle	brain
28	chr12:59273600-59287000	Weak transcription	Stomach Mucosa	stomach
29	chr12:59273800-59280000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:59273800-59283400	Weak transcription	Lung	lung
31	chr12:59273800-59283400	Weak transcription	Spleen	Spleen
32	chr12:59273800-59289000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:59274000-59279600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr12:59274600-59281000	Weak transcription	HepG2	liver
35	chr12:59274600-59281200	Weak transcription	Brain Substantia Nigra	brain
36	chr12:59274600-59281400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:59274600-59281400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr12:59274600-59283200	Weak transcription	Gastric	stomach
39	chr12:59274600-59283200	Weak transcription	Pancreas	Pancrea
40	chr12:59274800-59283600	Weak transcription	Fetal Intestine Small	intestine
41	chr12:59274800-59289000	Weak transcription	Right Ventricle	heart
42	chr12:59275000-59300800	Weak transcription	HSMMtube	muscle
43	chr12:59275200-59297800	Weak transcription	Hela-S3	cervix
44	chr12:59275800-59280000	Weak transcription	Left Ventricle	heart
45	chr12:59275800-59280800	Strong transcription	Fetal Lung	lung
46	chr12:59276200-59279600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr12:59276600-59284000	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr12:59277000-59281000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:59277000-59282000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:59277200-59282000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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