Variant report

Variant	rs12118724
Chromosome Location	chr1:193073853-193073854
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:193026932..193030661-chr1:193071909..193075798,10	K562	blood:
2	chr1:193027166..193030257-chr1:193073439..193079424,9	MCF-7	breast:
3	chr1:193073789..193075142-chr1:193090301..193091722,13	MCF-7	breast:
4	chr1:193071213..193080146-chr1:193088491..193094639,51	MCF-7	breast:
5	chr1:193020543..193046917-chr1:193069266..193098746,125	K562	blood:
6	chr1:193071491..193076891-chr1:193086924..193094906,44	MCF-7	breast:
7	chr1:193027586..193031673-chr1:193072686..193075563,11	MCF-7	breast:
8	chr1:193033762..193041249-chr1:193071629..193075233,8	K562	blood:
9	chr1:193060114..193062197-chr1:193073397..193075467,2	MCF-7	breast:
10	chr1:193072300..193074482-chr1:193111235..193114031,2	MCF-7	breast:
11	chr1:193071262..193074086-chr1:193134961..193136816,2	K562	blood:
12	chr1:193073395..193075181-chr1:193090593..193091565,9	MCF-7	breast:
13	chr1:193073518..193075825-chr16:84536562..84538522,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272579	Chromatin interaction
ENSG00000134371	Chromatin interaction
ENSG00000116747	Chromatin interaction
ENSG00000140950	Chromatin interaction
ENSG00000238754	Chromatin interaction
ENSG00000116750	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10489686	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10801170	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12123511	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12123970	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12129832	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12132305	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12134846	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12136893	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2887640	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34961778	0.82[AMR][1000 genomes]
rs35221108	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56022114	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6670264	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72738588	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72738589	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72738599	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7544830	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1002094	chr1:192968080-193084045	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193072800-193074200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:193072800-193074800	Active TSS	NHDF-Ad	bronchial
3	chr1:193072800-193074800	Active TSS	NHLF	lung
4	chr1:193073000-193074000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr1:193073000-193074000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
6	chr1:193073000-193074000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr1:193073000-193074200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr1:193073000-193074200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr1:193073000-193074200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:193073000-193074800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:193073000-193074800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:193073000-193075000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:193073000-193075000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:193073000-193075400	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr1:193073000-193075400	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr1:193073200-193074800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:193073200-193075000	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr1:193073200-193075000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:193073200-193075000	Active TSS	Aorta	Aorta
20	chr1:193073200-193075000	Active TSS	Colonic Mucosa	Colon
21	chr1:193073200-193075000	Active TSS	Esophagus	oesophagus
22	chr1:193073200-193075000	Active TSS	Fetal Kidney	kidney
23	chr1:193073200-193075000	Active TSS	Fetal Muscle Trunk	muscle
24	chr1:193073200-193075000	Active TSS	Left Ventricle	heart
25	chr1:193073200-193075000	Active TSS	Ovary	ovary
26	chr1:193073200-193075000	Active TSS	Psoas Muscle	Psoas
27	chr1:193073200-193075000	Active TSS	Right Atrium	heart
28	chr1:193073200-193075200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr1:193073200-193075200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:193073200-193075400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:193073200-193075400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:193073200-193075400	Active TSS	Brain Germinal Matrix	brain
33	chr1:193073400-193074200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:193073400-193074600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr1:193073400-193074800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:193073400-193074800	Active TSS	Gastric	stomach
37	chr1:193073400-193074800	Active TSS	Lung	lung
38	chr1:193073400-193074800	Active TSS	Small Intestine	intestine
39	chr1:193073400-193074800	Active TSS	HepG2	liver
40	chr1:193073400-193075000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:193073400-193075000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:193073400-193075000	Active TSS	H9 Cell Line	embryonic stem cell
43	chr1:193073400-193075000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:193073400-193075000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:193073400-193075000	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr1:193073400-193075000	Active TSS	Brain Substantia Nigra	brain
47	chr1:193073400-193075000	Active TSS	Pancreas	Pancrea
48	chr1:193073400-193075000	Active TSS	Placenta Amnion	Placenta Amnion
49	chr1:193073400-193075000	Active TSS	Stomach Mucosa	stomach
50	chr1:193073400-193075000	Active TSS	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links