Variant report

Variant	rs10501128
Chromosome Location	chr11:33712835-33712836
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:33705983..33707697-chr11:33711196..33713737,2	K562	blood:
2	chr11:33710199..33713605-chr11:33756401..33760125,5	MCF-7	breast:
3	chr11:33705260..33707766-chr11:33711578..33713625,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000085063	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10768019	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10768020	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10768021	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10836100	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11032341	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11032343	0.93[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032344	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1569764	0.97[ASN][1000 genomes]
rs34565296	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4142964	0.97[ASN][1000 genomes]
rs4356198	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7127596	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7928865	0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832113	chr11:33609202-33767781	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10501128	LDLRAD3	cis	parietal	SCAN
rs10501128	CCDC73	cis	parietal	SCAN
rs10501128	HIPK3	cis	cerebellum	SCAN

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33694000-33713600	Weak transcription	Fetal Brain Female	brain
2	chr11:33706000-33714200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:33706600-33714200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:33709200-33721800	Enhancers	HMEC	breast
5	chr11:33709400-33719800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr11:33709600-33717200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:33709600-33722200	Enhancers	Stomach Mucosa	stomach
8	chr11:33710400-33713600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:33710400-33717200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:33710400-33717200	Enhancers	Left Ventricle	heart
11	chr11:33710600-33713200	Flanking Active TSS	NHDF-Ad	bronchial
12	chr11:33710600-33713400	Enhancers	HSMMtube	muscle
13	chr11:33710600-33713800	Enhancers	Placenta Amnion	Placenta Amnion
14	chr11:33710600-33714600	Flanking Active TSS	Hela-S3	cervix
15	chr11:33710600-33715400	Enhancers	Placenta	Placenta
16	chr11:33710600-33715400	Enhancers	Right Atrium	heart
17	chr11:33710800-33713200	Enhancers	K562	blood
18	chr11:33710800-33713400	Enhancers	Gastric	stomach
19	chr11:33710800-33713600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr11:33710800-33717200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:33711000-33715000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:33711000-33715000	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr11:33711000-33719000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr11:33711200-33713400	Enhancers	Brain Hippocampus Middle	brain
25	chr11:33711200-33713600	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr11:33711200-33715000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:33711400-33713800	Flanking Active TSS	A549	lung
28	chr11:33711600-33714400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr11:33711600-33714800	Enhancers	Fetal Intestine Large	intestine
30	chr11:33711600-33715400	Enhancers	Fetal Lung	lung
31	chr11:33711600-33716400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:33711800-33713000	Enhancers	Brain Cingulate Gyrus	brain
33	chr11:33711800-33713000	Weak transcription	Colon Smooth Muscle	Colon
34	chr11:33711800-33713600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:33711800-33715000	Enhancers	Fetal Heart	heart
36	chr11:33711800-33715000	Enhancers	Fetal Stomach	stomach
37	chr11:33711800-33720400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:33712000-33713200	Flanking Active TSS	HepG2	liver
39	chr11:33712000-33713400	Enhancers	Brain Angular Gyrus	brain
40	chr11:33712000-33713400	Enhancers	Spleen	Spleen
41	chr11:33712000-33713600	Enhancers	Brain Substantia Nigra	brain
42	chr11:33712000-33713800	Enhancers	Fetal Brain Male	brain
43	chr11:33712000-33714200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr11:33712000-33714800	Enhancers	Colonic Mucosa	Colon
45	chr11:33712000-33717400	Enhancers	Pancreas	Pancrea
46	chr11:33712000-33720200	Enhancers	Right Ventricle	heart
47	chr11:33712200-33713200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:33712200-33713400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:33712200-33713400	Enhancers	Brain Germinal Matrix	brain
50	chr11:33712200-33713400	Enhancers	Small Intestine	intestine

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