Variant report

Variant	rs61955589
Chromosome Location	chr12:122694870-122694871
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122693808..122696129-chr12:122709070..122710648,2	MCF-7	breast:
2	chr12:122689006..122695894-chr12:122708656..122711898,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184047	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11057290	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11061368	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11836373	0.98[EUR][1000 genomes]
rs12426902	0.83[EUR][1000 genomes]
rs12580043	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1882581	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2089887	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35422129	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58134429	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60995900	0.98[EUR][1000 genomes]
rs61954363	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61954365	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61954366	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61954367	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61954368	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61954369	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61954370	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61954371	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61954374	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61954376	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61954377	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61954378	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61954381	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61954382	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61954383	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61954393	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61954394	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61954395	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61954397	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61955587	0.87[AMR][1000 genomes]
rs61955588	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7132789	0.84[EUR][1000 genomes]
rs7303975	0.84[EUR][1000 genomes]
rs7311354	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7953290	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7964780	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7968764	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7979955	0.80[EUR][1000 genomes]
rs907485	0.88[AMR][1000 genomes];0.93[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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 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	chr12:122688200-122696600	Weak transcription	Hela-S3	cervix
2	chr12:122689000-122709000	Weak transcription	Right Atrium	heart
3	chr12:122689200-122696800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:122690200-122695600	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:122690200-122696000	Weak transcription	NHDF-Ad	bronchial
6	chr12:122690400-122695600	Weak transcription	Fetal Brain Male	brain
7	chr12:122690600-122700400	Weak transcription	Fetal Heart	heart
8	chr12:122690600-122708000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:122690800-122696400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:122690800-122700400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:122690800-122706000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:122690800-122708400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:122690800-122708800	Strong transcription	Fetal Brain Female	brain
14	chr12:122690800-122709400	Weak transcription	Stomach Mucosa	stomach
15	chr12:122691000-122700800	Strong transcription	Fetal Intestine Small	intestine
16	chr12:122691000-122703200	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr12:122691000-122705800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:122691000-122707600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:122691000-122707800	Strong transcription	Thymus	Thymus
20	chr12:122691000-122708200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr12:122691000-122708800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:122691000-122708800	Strong transcription	A549	lung
23	chr12:122691200-122700800	Strong transcription	Spleen	Spleen
24	chr12:122691200-122706600	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr12:122691200-122708000	Strong transcription	Brain Germinal Matrix	brain
26	chr12:122691200-122708000	Strong transcription	Stomach Smooth Muscle	stomach
27	chr12:122691200-122708400	Strong transcription	Duodenum Mucosa	Duodenum
28	chr12:122691200-122708600	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr12:122691200-122708800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:122691200-122709000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:122691200-122709200	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr12:122691400-122695000	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr12:122691400-122696000	Strong transcription	Ovary	ovary
34	chr12:122691400-122696200	Strong transcription	Left Ventricle	heart
35	chr12:122691400-122696400	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr12:122691400-122701800	Strong transcription	HSMM	muscle
37	chr12:122691400-122703000	Strong transcription	Brain Anterior Caudate	brain
38	chr12:122691400-122703000	Strong transcription	Fetal Intestine Large	intestine
39	chr12:122691400-122703200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr12:122691400-122704000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:122691400-122704000	Strong transcription	Dnd41	blood
42	chr12:122691400-122705800	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr12:122691400-122707200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr12:122691400-122707800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:122691400-122707800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:122691400-122708000	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr12:122691400-122708200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr12:122691400-122708400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr12:122691400-122708400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:122691400-122708800	Strong transcription	Primary monocytes fromperipheralblood	blood

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