Variant report

Variant	rs61954450
Chromosome Location	chr12:122931754-122931755
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122914575..122917314-chr12:122929160..122931843,2	MCF-7	breast:
2	chr12:122904517..122908948-chr12:122931200..122935714,5	MCF-7	breast:
3	chr12:122929603..122932468-chr12:122945246..122946778,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130779	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10846839	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10846854	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10846879	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10846896	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057787	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11057801	0.83[EUR][1000 genomes]
rs11057810	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11057832	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11057894	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11057934	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11058001	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11058009	0.86[AMR][1000 genomes]
rs11058010	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11058043	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11058062	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11058064	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11058099	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11058136	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11058143	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11058144	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11058159	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11058186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11058206	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11058232	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11058237	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12229152	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12229345	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12424715	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12427143	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12427421	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2173581	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3817012	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4758661	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4758672	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4758694	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4758697	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56861120	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56863652	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58062133	0.81[EUR][1000 genomes]
rs58766840	0.82[AMR][1000 genomes]
rs58853108	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61954405	0.82[EUR][1000 genomes]
rs61954416	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61954418	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61954421	0.80[ASN][1000 genomes]
rs61954422	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61954424	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61954425	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61954427	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61954441	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61954442	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61954447	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61956097	0.81[ASN][1000 genomes]
rs8181750	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs882969	0.82[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	nsv973945	chr12:122923254-122958354	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	8 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	chr12:122922800-122960400	Weak transcription	Right Atrium	heart
2	chr12:122931000-122932000	Enhancers	K562	blood
3	chr12:122931200-122931800	Enhancers	A549	lung
4	chr12:122931200-122931800	Enhancers	NHEK	skin
5	chr12:122931200-122932000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:122931200-122932200	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr12:122931200-122932400	Enhancers	HSMM	muscle
8	chr12:122931400-122932400	Enhancers	Hela-S3	cervix
9	chr12:122931400-122933000	Weak transcription	Placenta	Placenta
10	chr12:122931400-122933800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:122931400-122938200	Weak transcription	HepG2	liver
12	chr12:122931600-122931800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr12:122931600-122931800	Enhancers	Duodenum Mucosa	Duodenum
14	chr12:122931600-122931800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr12:122931600-122931800	Enhancers	NHLF	lung
16	chr12:122931600-122932000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr12:122931600-122932000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr12:122931600-122932000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:122931600-122932000	Enhancers	Osteobl	bone

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