Variant report

Variant	rs61955089
Chromosome Location	chr12:123851372-123851373
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123749757..123758492-chr12:123844437..123851411,15	MCF-7	breast:
2	chr12:123756475..123758463-chr12:123849452..123851589,2	K562	blood:
3	chr12:123754032..123756441-chr12:123848296..123851530,6	K562	blood:
4	chr12:123849812..123851534-chr12:123858422..123861381,2	MCF-7	breast:
5	chr12:123846590..123852305-chr12:123861449..123873718,39	K562	blood:
6	chr12:123846880..123851536-chr12:123865445..123870876,12	MCF-7	breast:
7	chr12:123832815..123836496-chr12:123847723..123851604,4	MCF-7	breast:
8	chr12:123845329..123854937-chr12:123865496..123876607,58	K562	blood:
9	chr12:123845591..123852236-chr12:123866929..123875043,19	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000111328	Chromatin interaction
ENSG00000139697	Chromatin interaction
ENSG00000207189	Chromatin interaction
ENSG00000183955	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10773007	0.91[ASN][1000 genomes]
rs10773009	0.91[ASN][1000 genomes]
rs10773010	0.91[ASN][1000 genomes]
rs10773014	0.91[ASN][1000 genomes]
rs10846503	0.83[ASN][1000 genomes]
rs10846504	0.83[ASN][1000 genomes]
rs10846509	0.91[ASN][1000 genomes]
rs10846510	0.91[ASN][1000 genomes]
rs10846511	0.91[ASN][1000 genomes]
rs10846513	0.83[EUR][1000 genomes]
rs10846514	0.91[ASN][1000 genomes]
rs10846518	0.91[ASN][1000 genomes]
rs10846521	0.91[ASN][1000 genomes]
rs10846522	0.91[ASN][1000 genomes]
rs10846524	0.91[ASN][1000 genomes]
rs11057243	0.83[ASN][1000 genomes]
rs11057250	0.91[ASN][1000 genomes]
rs11057264	0.91[ASN][1000 genomes]
rs11057266	0.91[ASN][1000 genomes]
rs11057285	0.91[ASN][1000 genomes]
rs11057286	0.91[ASN][1000 genomes]
rs11057289	0.91[EUR][1000 genomes]
rs12312675	0.83[EUR][1000 genomes]
rs12371973	0.91[ASN][1000 genomes]
rs28376696	0.87[ASN][1000 genomes]
rs28377694	0.91[ASN][1000 genomes]
rs28397122	0.91[ASN][1000 genomes]
rs28454135	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs28475177	0.91[ASN][1000 genomes]
rs28573826	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28633324	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs28646185	0.83[ASN][1000 genomes]
rs28655516	0.91[ASN][1000 genomes]
rs28660661	0.91[ASN][1000 genomes]
rs28861152	0.91[ASN][1000 genomes]
rs28898283	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4281511	0.83[ASN][1000 genomes]
rs4313613	0.83[ASN][1000 genomes]
rs61953483	0.83[EUR][1000 genomes]
rs61953484	0.83[EUR][1000 genomes]
rs61955083	0.91[EUR][1000 genomes]
rs61955085	0.91[EUR][1000 genomes]
rs61955088	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs61955114	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61955117	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6488868	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123850400-123856200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:123850600-123851400	Enhancers	Primary T cells fromperipheralblood	blood
3	chr12:123850600-123852000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:123850600-123852200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:123850600-123852200	Weak transcription	A549	lung
6	chr12:123850600-123867200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:123850600-123867800	Weak transcription	Right Atrium	heart
8	chr12:123850800-123851400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:123850800-123851400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:123850800-123852000	Enhancers	Primary B cells from cord blood	blood
11	chr12:123850800-123852000	Weak transcription	Hela-S3	cervix
12	chr12:123850800-123856800	Weak transcription	HepG2	liver
13	chr12:123851000-123851600	Enhancers	Dnd41	blood
14	chr12:123851200-123851400	Weak transcription	Fetal Intestine Small	intestine
15	chr12:123851200-123851600	Enhancers	GM12878-XiMat	blood
16	chr12:123851200-123852200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr12:123851200-123853400	Weak transcription	K562	blood
18	chr12:123851200-123856200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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