Variant report

Variant	rs59178045
Chromosome Location	chr12:49488550-49488551
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	chr12:49478072..49490419-chr12:49518907..49527034,52	K562	blood:
6	chr12:49477289..49493962-chr12:49512467..49528127,64	K562	blood:
7	chr12:49482462..49486545-chr12:49487319..49491529,4	MCF-7	breast:
8	chr12:49481573..49488751-chr12:49501255..49506032,14	K562	blood:
9	chr12:49450480..49457103-chr12:49487982..49492074,8	K562	blood:
10	chr12:49452588..49458658-chr12:49486666..49491439,6	MCF-7	breast:

No data

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

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

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

rs_ID	r²[population]
rs11168855	1.00[AMR][1000 genomes]
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	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12311604	0.83[AFR][1000 genomes];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]
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:116 , 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	chr12:49485800-49490800	Weak transcription	Aorta	Aorta
7	chr12:49486000-49488800	Bivalent Enhancer	Fetal Thymus	thymus
8	chr12:49486400-49490600	Weak transcription	HSMM	muscle
9	chr12:49486600-49489200	Enhancers	Spleen	Spleen
10	chr12:49486800-49488600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:49486800-49488600	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:49487200-49488800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
13	chr12:49487400-49488600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
14	chr12:49487400-49488600	Flanking Active TSS	HUVEC	blood vessel
15	chr12:49487400-49488800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:49487400-49488800	Bivalent Enhancer	Fetal Brain Male	brain
17	chr12:49487400-49489000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:49487400-49489000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
19	chr12:49487400-49489000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr12:49487400-49489000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:49487400-49489000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
22	chr12:49487600-49488600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
23	chr12:49487600-49488600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr12:49487600-49488600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:49487600-49488600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
26	chr12:49487600-49488600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:49487600-49488600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:49487600-49488600	Enhancers	Liver	Liver
29	chr12:49487600-49488600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
30	chr12:49487600-49488600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
31	chr12:49487600-49488600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
32	chr12:49487600-49488600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
33	chr12:49487600-49488600	Enhancers	Pancreas	Pancrea
34	chr12:49487600-49488600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
35	chr12:49487600-49488600	Bivalent Enhancer	Stomach Mucosa	stomach
36	chr12:49487600-49488600	Bivalent Enhancer	GM12878-XiMat	blood
37	chr12:49487600-49488600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
38	chr12:49487600-49488800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:49487600-49488800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:49487600-49489000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
41	chr12:49487600-49489000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:49487600-49489400	Bivalent Enhancer	Fetal Heart	heart
43	chr12:49487600-49490600	Weak transcription	Dnd41	blood
44	chr12:49487800-49488600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
45	chr12:49487800-49488600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
46	chr12:49487800-49488600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr12:49487800-49488600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
48	chr12:49487800-49488600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:49487800-49488600	Flanking Active TSS	Brain Anterior Caudate	brain
50	chr12:49487800-49488600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain

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