Variant report

Variant	rs11168855
Chromosome Location	chr12:49487927-49487928
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	chr12:49453076..49457977-chr12:49485062..49491403,12	K562	blood:
2	chr12:49483859..49489908-chr12:49657302..49662649,9	K562	blood:
3	chr12:49487580..49490269-chr12:49658075..49660760,2	K562	blood:
4	chr12:49460491..49475559-chr12:49480736..49489831,23	K562	blood:
5	chr12:49447251..49459518-chr12:49480338..49487981,17	K562	blood:
6	chr12:49478072..49490419-chr12:49518907..49527034,52	K562	blood:
7	chr12:49477289..49493962-chr12:49512467..49528127,64	K562	blood:
8	chr12:49482462..49486545-chr12:49487319..49491529,4	MCF-7	breast:
9	chr12:49481573..49488751-chr12:49501255..49506032,14	K562	blood:
10	chr12:49452588..49458658-chr12:49486666..49491439,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000139636	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000200309	Chromatin interaction
ENSG00000167548	Chromatin interaction
ENSG00000257346	Chromatin interaction
ENSG00000258017	Chromatin interaction
ENSG00000167550	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11168858	1.00[AMR][1000 genomes]
rs11168871	1.00[AMR][1000 genomes]
rs12298540	1.00[AMR][1000 genomes]
rs12301841	1.00[AMR][1000 genomes]
rs12308383	1.00[AMR][1000 genomes]
rs12309311	1.00[AMR][1000 genomes]
rs12311604	1.00[AMR][1000 genomes]
rs12314634	1.00[AMR][1000 genomes]
rs12314888	1.00[AMR][1000 genomes]
rs12318907	1.00[AMR][1000 genomes]
rs12320695	1.00[AMR][1000 genomes]
rs59178045	1.00[AMR][1000 genomes]
rs61539002	0.83[AMR][1000 genomes]
rs61557154	1.00[AMR][1000 genomes]
rs73304131	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	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49482800-49499200	Weak transcription	Hela-S3	cervix
2	chr12:49483600-49488800	Bivalent Enhancer	Fetal Lung	lung
3	chr12:49483800-49488800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr12:49484400-49489000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:49484400-49489000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:49485600-49488000	Flanking Active TSS	K562	blood
7	chr12:49485800-49490800	Weak transcription	Aorta	Aorta
8	chr12:49486000-49488800	Bivalent Enhancer	Fetal Thymus	thymus
9	chr12:49486200-49488000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
10	chr12:49486400-49488000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
11	chr12:49486400-49490600	Weak transcription	HSMM	muscle
12	chr12:49486600-49488000	Weak transcription	Ovary	ovary
13	chr12:49486600-49489200	Enhancers	Spleen	Spleen
14	chr12:49486800-49488000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:49486800-49488600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:49486800-49488600	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:49487200-49488000	Bivalent Enhancer	Primary T cells from cord blood	blood
18	chr12:49487200-49488800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
19	chr12:49487400-49488000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:49487400-49488000	Bivalent Enhancer	Colonic Mucosa	Colon
21	chr12:49487400-49488200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
22	chr12:49487400-49488200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
23	chr12:49487400-49488400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
24	chr12:49487400-49488400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
25	chr12:49487400-49488600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
26	chr12:49487400-49488600	Flanking Active TSS	HUVEC	blood vessel
27	chr12:49487400-49488800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:49487400-49488800	Bivalent Enhancer	Fetal Brain Male	brain
29	chr12:49487400-49489000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:49487400-49489000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
31	chr12:49487400-49489000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
32	chr12:49487400-49489000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:49487400-49489000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
34	chr12:49487600-49488000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
35	chr12:49487600-49488000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:49487600-49488000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr12:49487600-49488000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:49487600-49488000	Bivalent Enhancer	Brain Cingulate Gyrus	brain
39	chr12:49487600-49488000	Enhancers	Psoas Muscle	Psoas
40	chr12:49487600-49488000	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
41	chr12:49487600-49488000	Bivalent Enhancer	Thymus	Thymus
42	chr12:49487600-49488200	Bivalent Enhancer	Primary B cells from cord blood	blood
43	chr12:49487600-49488200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
44	chr12:49487600-49488200	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:49487600-49488200	Bivalent Enhancer	Fetal Intestine Large	intestine
46	chr12:49487600-49488200	Enhancers	Lung	lung
47	chr12:49487600-49488600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
48	chr12:49487600-49488600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
49	chr12:49487600-49488600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr12:49487600-49488600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood

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