Variant report

Variant	rs73227954
Chromosome Location	chr12:122135587-122135588
allele	C/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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122133700..122136564-chr12:122230848..122233714,3	K562	blood:
2	chr12:122134845..122136380-chr12:122213063..122216045,2	K562	blood:
3	chr12:122134705..122135736-chr12:122210853..122211809,10	MCF-7	breast:
4	chr12:122133742..122136740-chr12:122185481..122187047,2	MCF-7	breast:
5	chr12:122135150..122137253-chr12:122230158..122231709,2	MCF-7	breast:
6	chr12:122135031..122135678-chr12:122231970..122232647,2	MCF-7	breast:
7	chr12:122134846..122137148-chr12:122229846..122233417,4	MCF-7	breast:
8	chr12:122134662..122135654-chr12:122210878..122211737,2	MCF-7	breast:
9	chr12:122134034..122138136-chr12:122226162..122228726,3	MCF-7	breast:
10	chr12:122134674..122135744-chr12:122210813..122211800,14	K562	blood:
11	chr12:122134847..122135729-chr12:122231885..122233170,6	K562	blood:
12	chr12:122134681..122135706-chr12:122214135..122214665,3	MCF-7	breast:
13	chr12:122134190..122135735-chr12:122208204..122211190,2	K562	blood:
14	chr12:122134794..122135634-chr12:122186324..122187082,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000188735	Chromatin interaction
ENSG00000139725	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs35343615	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4760119	1.00[EUR][1000 genomes]
rs4760120	1.00[EUR][1000 genomes]
rs4760122	1.00[EUR][1000 genomes]
rs4760124	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4981001	1.00[AMR][1000 genomes]
rs55692746	1.00[EUR][1000 genomes]
rs55699326	0.96[EUR][1000 genomes]
rs55911302	1.00[EUR][1000 genomes]
rs56166919	1.00[EUR][1000 genomes]
rs56790499	0.82[EUR][1000 genomes]
rs57099146	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57195740	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58648683	1.00[EUR][1000 genomes]
rs59143714	1.00[EUR][1000 genomes]
rs59976026	1.00[EUR][1000 genomes]
rs60637634	1.00[EUR][1000 genomes]
rs73227908	1.00[AMR][1000 genomes]
rs73227911	1.00[AMR][1000 genomes]
rs73227927	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73227935	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73227941	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227943	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227944	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227946	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227949	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7397580	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7486943	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][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	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122121800-122149600	Weak transcription	Right Atrium	heart
2	chr12:122125400-122137600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:122125400-122139200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr12:122129400-122139800	Weak transcription	A549	lung
5	chr12:122135000-122135600	Enhancers	Dnd41	blood
6	chr12:122135200-122135600	Enhancers	Primary B cells from peripheral blood	blood
7	chr12:122135200-122135600	Enhancers	Primary T cells fromperipheralblood	blood
8	chr12:122135200-122135600	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr12:122135200-122135600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr12:122135200-122135600	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr12:122135200-122135600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:122135200-122135600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:122135200-122135600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr12:122135200-122135600	Enhancers	Fetal Thymus	thymus
15	chr12:122135200-122135600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr12:122135200-122135600	Enhancers	Hela-S3	cervix
17	chr12:122135200-122135600	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr12:122135400-122139000	Weak transcription	Fetal Intestine Small	intestine
19	chr12:122135400-122139200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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