Variant report

Variant	rs11169273
Chromosome Location	chr12:50507471-50507472
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50506553..50508392-chr12:50677270..50679374,2	K562	blood:
2	chr12:50506976..50509315-chr12:50512886..50514757,3	K562	blood:
3	chr12:50504614..50508392-chr12:50676689..50680044,5	K562	blood:
4	chr12:50475972..50484033-chr12:50500850..50507517,14	K562	blood:
5	chr12:50478595..50483647-chr12:50502911..50507517,7	K562	blood:
6	chr12:50506326..50509315-chr12:50512899..50514726,2	K562	blood:
7	chr12:50505504..50507655-chr12:50614479..50616710,2	MCF-7	breast:
8	chr12:50503326..50508590-chr12:50559314..50563839,9	MCF-7	breast:
9	chr12:50506379..50508104-chr12:50510403..50512251,3	K562	blood:
10	chr12:50503967..50508677-chr12:50559559..50562905,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000050405	Chromatin interaction
ENSG00000066117	Chromatin interaction
ENSG00000139624	Chromatin interaction
ENSG00000203433	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11169272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11169279	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11169280	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12299109	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12305438	1.00[AMR][1000 genomes]
rs12309501	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs296735	1.00[AMR][1000 genomes]
rs296738	1.00[AMR][1000 genomes]
rs296753	1.00[AMR][1000 genomes]
rs372753	1.00[AMR][1000 genomes]
rs55800109	1.00[AMR][1000 genomes]
rs57143574	1.00[AMR][1000 genomes]
rs57596053	1.00[AMR][1000 genomes]
rs58826760	1.00[AMR][1000 genomes]
rs61221429	1.00[AMR][1000 genomes]
rs672697	1.00[AMR][1000 genomes]
rs7312996	1.00[AMR][1000 genomes]
rs74090092	1.00[AMR][1000 genomes]
rs74090094	1.00[AMR][1000 genomes]
rs74090112	1.00[AMR][1000 genomes]
rs74092539	1.00[AMR][1000 genomes]
rs7963427	1.00[AMR][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	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
5	nsv558840	chr12:50449976-50523964	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 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	chr12:50505200-50507600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:50505200-50507600	Active TSS	K562	blood
3	chr12:50505200-50507800	Active TSS	GM12878-XiMat	blood
4	chr12:50505400-50507600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:50505400-50507600	Active TSS	Hela-S3	cervix
6	chr12:50505600-50507600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:50506600-50507800	Weak transcription	Spleen	Spleen
8	chr12:50506800-50507600	Weak transcription	Small Intestine	intestine
9	chr12:50506800-50521000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:50506800-50523600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:50507000-50507600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:50507000-50507600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr12:50507000-50507600	Weak transcription	Aorta	Aorta
14	chr12:50507000-50507600	Enhancers	Fetal Muscle Trunk	muscle
15	chr12:50507000-50507800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:50507000-50507800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:50507000-50507800	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr12:50507000-50507800	Enhancers	Primary B cells from peripheral blood	blood
19	chr12:50507000-50507800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:50507000-50507800	Weak transcription	Brain Angular Gyrus	brain
21	chr12:50507000-50507800	Weak transcription	Lung	lung
22	chr12:50507000-50507800	Weak transcription	Ovary	ovary
23	chr12:50507000-50507800	Weak transcription	Pancreas	Pancrea
24	chr12:50507000-50507800	Weak transcription	Psoas Muscle	Psoas
25	chr12:50507000-50508000	Enhancers	Primary T cells from cord blood	blood
26	chr12:50507000-50508000	Enhancers	Fetal Muscle Leg	muscle
27	chr12:50507000-50508200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr12:50507000-50508200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:50507000-50508200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:50507000-50508200	Weak transcription	Fetal Stomach	stomach
31	chr12:50507000-50508400	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr12:50507000-50508400	Enhancers	Fetal Thymus	thymus
33	chr12:50507000-50508400	Enhancers	Left Ventricle	heart
34	chr12:50507000-50508600	Enhancers	Colon Smooth Muscle	Colon
35	chr12:50507000-50508800	Enhancers	Adipose Nuclei	Adipose
36	chr12:50507000-50509200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr12:50507000-50509200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:50507000-50509200	Weak transcription	Gastric	stomach
39	chr12:50507000-50509400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr12:50507000-50510000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:50507000-50510200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr12:50507000-50510400	Weak transcription	HSMMtube	muscle
43	chr12:50507000-50513000	Weak transcription	Esophagus	oesophagus
44	chr12:50507000-50513200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr12:50507000-50513200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:50507000-50513600	Weak transcription	Fetal Kidney	kidney
47	chr12:50507000-50513800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:50507000-50520800	Weak transcription	Fetal Lung	lung
49	chr12:50507000-50520800	Weak transcription	NH-A	brain
50	chr12:50507000-50522400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links