Variant report

Variant	rs55865069
Chromosome Location	chr12:49448463-49448464
allele	C/T
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	chr12:49447251..49459518-chr12:49480338..49487981,17	K562	blood:
2	chr12:49446392..49469923-chr12:49518127..49527853,66	K562	blood:
3	chr12:49446497..49448784-chr12:49523692..49525234,2	MCF-7	breast:
4	chr12:49408338..49419708-chr12:49447252..49460551,38	K562	blood:
5	chr12:49411250..49414905-chr12:49447359..49450802,6	MCF-7	breast:
6	chr12:49448339..49452151-chr12:49502290..49505835,5	K562	blood:
7	chr12:49409714..49416851-chr12:49447402..49455499,24	MCF-7	breast:
8	chr12:49440399..49469923-chr12:49518291..49528303,83	K562	blood:
9	chr12:49432703..49444457-chr12:49447982..49454860,15	MCF-7	breast:
10	chr12:49389470..49393018-chr12:49447976..49450275,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000200309	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000257346	Chromatin interaction
ENSG00000139636	Chromatin interaction
ENSG00000258017	Chromatin interaction
ENSG00000181929	Chromatin interaction
ENSG00000257913	Chromatin interaction
ENSG00000167548	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12310024	1.00[EUR][1000 genomes]
rs55776396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][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	nsv832404	chr12:49258560-49458555	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv558833	chr12:49358880-49478812	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49413000-49453400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:49413400-49449000	Strong transcription	Fetal Intestine Small	intestine
3	chr12:49413800-49449200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:49414200-49449000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:49414400-49448800	Strong transcription	Colonic Mucosa	Colon
6	chr12:49414400-49449000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:49414400-49449000	Strong transcription	Brain Cingulate Gyrus	brain
8	chr12:49414400-49449000	Strong transcription	Brain Germinal Matrix	brain
9	chr12:49414400-49449200	Strong transcription	Fetal Stomach	stomach
10	chr12:49414400-49449200	Strong transcription	Fetal Thymus	thymus
11	chr12:49414400-49449200	Strong transcription	Thymus	Thymus
12	chr12:49414400-49449400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:49414400-49449400	Strong transcription	Fetal Intestine Large	intestine
14	chr12:49414400-49449800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:49414600-49448600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:49414600-49448600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:49414600-49448600	Strong transcription	Adipose Nuclei	Adipose
18	chr12:49414600-49448800	Strong transcription	Ovary	ovary
19	chr12:49414600-49449000	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr12:49414600-49449000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:49414600-49449000	Strong transcription	Primary T cells from cord blood	blood
22	chr12:49414600-49449400	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr12:49414600-49449600	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr12:49414600-49449800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:49414800-49449200	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr12:49414800-49449200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr12:49414800-49449400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:49414800-49449400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr12:49415000-49449000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:49415000-49449000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:49415000-49449000	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr12:49415200-49448600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:49415200-49448600	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:49415200-49448800	Strong transcription	Liver	Liver
35	chr12:49415200-49449600	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr12:49415400-49449000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr12:49415400-49449200	Strong transcription	H9 Cell Line	embryonic stem cell
38	chr12:49415600-49449000	Strong transcription	Fetal Lung	lung
39	chr12:49417800-49449200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:49417800-49449400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:49420600-49449000	Strong transcription	Duodenum Mucosa	Duodenum
42	chr12:49424800-49448800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr12:49425600-49448600	Strong transcription	Primary B cells from peripheral blood	blood
44	chr12:49425600-49449400	Weak transcription	Right Atrium	heart
45	chr12:49427800-49449400	Strong transcription	Brain Substantia Nigra	brain
46	chr12:49428200-49448800	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr12:49428400-49448600	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr12:49428400-49449000	Strong transcription	Fetal Muscle Trunk	muscle
49	chr12:49428400-49449200	Strong transcription	Fetal Muscle Leg	muscle
50	chr12:49428600-49449000	Strong transcription	Brain Anterior Caudate	brain

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