Variant report

Variant	rs61955588
Chromosome Location	chr12:122690784-122690785
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	chr12:122686753..122691904-chr12:122708300..122712516,9	MCF-7	breast:
2	chr12:122689282..122691935-chr12:122699257..122701541,2	MCF-7	breast:
3	chr12:122326336..122328188-chr12:122688489..122691049,2	MCF-7	breast:
4	chr12:122625217..122627565-chr12:122689835..122692014,2	K562	blood:
5	chr12:122457835..122460525-chr12:122689961..122692307,2	K562	blood:
6	chr12:122685663..122693033-chr12:122702446..122708793,8	K562	blood:
7	chr12:122689976..122691920-chr12:122706553..122708365,2	MCF-7	breast:
8	chr12:122522234..122524489-chr12:122689205..122691310,2	MCF-7	breast:
9	chr12:122620610..122622976-chr12:122690151..122692942,2	K562	blood:
10	chr12:122688288..122691366-chr12:122708809..122712145,5	K562	blood:
11	chr12:122689006..122695894-chr12:122708656..122711898,6	MCF-7	breast:
12	chr12:122684854..122691366-chr12:122708809..122712343,7	K562	blood:
13	chr12:122674983..122677095-chr12:122689266..122691695,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255856	Chromatin interaction
ENSG00000256950	Chromatin interaction
ENSG00000110801	Chromatin interaction
ENSG00000184047	Chromatin interaction
ENSG00000110987	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11057290	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11061368	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11836373	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12426902	0.83[EUR][1000 genomes]
rs12580043	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1882581	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2089887	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35422129	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58134429	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60995900	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61954363	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61954365	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61954366	0.86[AFR][1000 genomes];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];0.90[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	0.81[AFR][1000 genomes];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];0.90[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];0.85[EUR][1000 genomes]
rs61955586	0.80[EUR][1000 genomes]
rs61955587	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61955589	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	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7964780	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7968764	0.89[AFR][1000 genomes];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:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122688200-122696600	Weak transcription	Hela-S3	cervix
2	chr12:122688600-122692200	Weak transcription	GM12878-XiMat	blood
3	chr12:122688800-122692600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:122688800-122694200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr12:122688800-122694400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:122689000-122691600	Weak transcription	Aorta	Aorta
7	chr12:122689000-122691800	Weak transcription	Liver	Liver
8	chr12:122689000-122691800	Weak transcription	HSMMtube	muscle
9	chr12:122689000-122709000	Weak transcription	Right Atrium	heart
10	chr12:122689200-122691200	Weak transcription	Right Ventricle	heart
11	chr12:122689200-122691400	Weak transcription	Ovary	ovary
12	chr12:122689200-122691400	Weak transcription	HSMM	muscle
13	chr12:122689200-122691600	Weak transcription	Gastric	stomach
14	chr12:122689200-122691600	Weak transcription	HMEC	breast
15	chr12:122689200-122692600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:122689200-122694200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:122689200-122696800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:122689400-122691400	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr12:122689400-122691400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:122689400-122692000	Weak transcription	Primary B cells from cord blood	blood
21	chr12:122689400-122693000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr12:122689600-122691400	Weak transcription	Dnd41	blood
23	chr12:122689600-122691800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr12:122689800-122692800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr12:122690000-122690800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
26	chr12:122690000-122691000	Weak transcription	A549	lung
27	chr12:122690000-122691200	Weak transcription	Lung	lung
28	chr12:122690000-122691400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr12:122690000-122691400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr12:122690000-122691400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr12:122690000-122691400	Enhancers	Placenta	Placenta
32	chr12:122690000-122691600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:122690000-122691600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:122690000-122692400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr12:122690200-122690800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:122690200-122690800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:122690200-122691000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:122690200-122691200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr12:122690200-122691400	Weak transcription	Primary T cells from cord blood	blood
40	chr12:122690200-122691400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr12:122690200-122691400	Weak transcription	Brain Anterior Caudate	brain
42	chr12:122690200-122691400	Weak transcription	Left Ventricle	heart
43	chr12:122690200-122691400	Weak transcription	Pancreas	Pancrea
44	chr12:122690200-122691400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr12:122690200-122691400	Weak transcription	Small Intestine	intestine
46	chr12:122690200-122691400	Weak transcription	NHEK	skin
47	chr12:122690200-122691600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:122690200-122691600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr12:122690200-122691600	Weak transcription	Brain Hippocampus Middle	brain
50	chr12:122690200-122691800	Weak transcription	Brain Angular Gyrus	brain

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