Variant report

Variant	rs1378894
Chromosome Location	chr15:51937462-51937463
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:51923743..51925497-chr15:51937035..51939547,2	K562	blood:
2	chr15:51933560..51938280-chr15:51939228..51942863,5	MCF-7	breast:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1017679	0.85[EUR][1000 genomes]
rs10851501	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11070861	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11857716	0.88[AMR][1000 genomes]
rs12324531	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12441057	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12708427	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12901452	0.92[EUR][1000 genomes]
rs12904173	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12904583	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1378892	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1378893	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1378895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1456295	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1456297	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1471072	0.85[EUR][1000 genomes]
rs1531157	0.81[EUR][1000 genomes]
rs1551657	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17524750	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17524906	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1840707	0.93[EUR][1000 genomes]
rs1902595	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1902596	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2061425	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2252220	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2414112	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2606134	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2606136	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2606137	0.93[EUR][1000 genomes]
rs2606138	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2606139	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2606141	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2606143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2606145	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2606146	0.92[EUR][1000 genomes]
rs2607110	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2607112	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2607116	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2607117	0.83[EUR][1000 genomes]
rs2622768	0.92[EUR][1000 genomes]
rs2622769	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2622770	0.93[EUR][1000 genomes]
rs28408214	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34448759	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34532503	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34662965	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34929849	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35011964	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35561856	0.80[EUR][1000 genomes]
rs4465557	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4774594	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4775954	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55725532	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56879579	0.85[EUR][1000 genomes]
rs61618680	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6493507	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493511	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6493512	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493514	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs716986	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7180329	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7181921	0.83[EUR][1000 genomes]
rs8025974	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8027162	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8029731	0.92[EUR][1000 genomes]
rs897581	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs956171	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9672605	0.92[EUR][1000 genomes]
rs9806214	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9944266	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[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	nsv471243	chr15:51345485-52018096	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv904219	chr15:51851999-51977159	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	n/a
3	nsv457139	chr15:51854718-51977159	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	n/a
4	nsv569407	chr15:51854718-51977159	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	n/a
5	nsv569408	chr15:51867172-51946100	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51934200-51938400	Weak transcription	K562	blood
2	chr15:51934200-51939400	Weak transcription	Stomach Mucosa	stomach
3	chr15:51934400-51939000	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr15:51935000-51938800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr15:51935200-51938800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr15:51935200-51939000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr15:51935200-51939400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr15:51935200-51939400	Weak transcription	HMEC	breast
9	chr15:51935400-51939400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr15:51935400-51939400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr15:51935400-51939400	Weak transcription	NHEK	skin
12	chr15:51936000-51939400	Weak transcription	Fetal Intestine Small	intestine

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