Variant report

Variant	rs61953484
Chromosome Location	chr12:123894641-123894642
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123889075..123892344-chr12:123892398..123894933,4	K562	blood:
2	chr12:123892437..123894843-chr12:124070809..124073314,2	MCF-7	breast:
3	chr12:123871220..123876084-chr12:123892723..123900288,8	K562	blood:

Variant related genes	Relation type
ENSG00000183955	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10846513	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057241	0.93[AMR][1000 genomes]
rs11057244	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11057246	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11057289	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12312675	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28573826	0.83[EUR][1000 genomes]
rs61953418	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs61953419	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs61953483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61955083	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61955085	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61955089	0.83[EUR][1000 genomes]
rs61955114	0.83[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	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1035223	chr12:123795559-123991706	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv899579	chr12:123843017-123901480	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv975551	chr12:123888322-123897046	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region miRNA target site	3 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	chr12:123875600-123895600	Strong transcription	Fetal Thymus	thymus
2	chr12:123876400-123894800	Strong transcription	Fetal Intestine Small	intestine
3	chr12:123876600-123894800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr12:123877400-123895600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:123882000-123911600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:123883200-123895400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:123883800-123895200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:123884200-123895200	Strong transcription	Fetal Muscle Trunk	muscle
9	chr12:123886000-123895200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:123886000-123895400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:123886200-123894800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:123886200-123895200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:123886200-123895200	Strong transcription	Fetal Muscle Leg	muscle
14	chr12:123886200-123895200	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:123886200-123895200	Strong transcription	Dnd41	blood
16	chr12:123886200-123895400	Strong transcription	Fetal Brain Female	brain
17	chr12:123886400-123894800	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:123886400-123895000	Strong transcription	Adipose Nuclei	Adipose
19	chr12:123886400-123895000	Strong transcription	Liver	Liver
20	chr12:123886400-123895200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:123886400-123895200	Strong transcription	Spleen	Spleen
22	chr12:123886400-123895200	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr12:123886400-123895200	Strong transcription	NHLF	lung
24	chr12:123886400-123895400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:123886400-123895400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:123886400-123895400	Strong transcription	Thymus	Thymus
27	chr12:123886600-123895000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:123886600-123895200	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr12:123887000-123895200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:123887000-123897600	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr12:123887200-123895200	Strong transcription	Brain Cingulate Gyrus	brain
32	chr12:123887200-123895200	Strong transcription	Duodenum Mucosa	Duodenum
33	chr12:123887400-123895000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:123887400-123895600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:123888000-123896200	Strong transcription	Lung	lung
36	chr12:123888200-123895200	Strong transcription	Brain Hippocampus Middle	brain
37	chr12:123888200-123895200	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr12:123888400-123895000	Strong transcription	Stomach Smooth Muscle	stomach
39	chr12:123889200-123895200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:123889600-123894800	Weak transcription	Fetal Heart	heart
41	chr12:123889600-123895000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr12:123889600-123902600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:123889600-123917000	Weak transcription	K562	blood
44	chr12:123889800-123902800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr12:123890200-123895800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr12:123890200-123896400	Weak transcription	Primary B cells from cord blood	blood
47	chr12:123890800-123894800	Strong transcription	Colonic Mucosa	Colon
48	chr12:123890800-123917200	Weak transcription	Fetal Kidney	kidney
49	chr12:123891000-123895400	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr12:123891200-123920400	Weak transcription	Psoas Muscle	Psoas

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