Variant report

Variant	rs12989012
Chromosome Location	chr2:40774425-40774426
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	chr2:40773010..40775504-chr2:40776139..40777780,2	K562	blood:
2	chr2:40763799..40765386-chr2:40772496..40774595,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12992540	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12992598	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13001437	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13003735	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13018810	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13019175	0.95[EUR][1000 genomes]
rs13019183	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13019201	0.95[EUR][1000 genomes]
rs13034467	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17026114	0.82[CEU][hapmap]
rs17026128	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34106653	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34446865	0.84[EUR][1000 genomes]
rs34466654	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34802220	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34875537	0.97[ASN][1000 genomes]
rs34895858	0.84[EUR][1000 genomes]
rs35422863	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35951633	0.96[ASN][1000 genomes]
rs57007180	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60794473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61356646	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61702121	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62149456	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs62149458	0.96[ASN][1000 genomes]
rs67526252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71441105	0.84[EUR][1000 genomes]
rs71441111	0.95[ASN][1000 genomes]
rs71441112	0.95[ASN][1000 genomes]
rs7561779	0.96[ASN][1000 genomes]
rs765190	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv873917	chr2:40710953-41015998	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40757800-40774800	Weak transcription	Small Intestine	intestine
2	chr2:40768800-40778800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr2:40772800-40774600	Enhancers	Adipose Nuclei	Adipose
4	chr2:40773400-40774800	Enhancers	Duodenum Mucosa	Duodenum
5	chr2:40773600-40775800	Weak transcription	Fetal Heart	heart
6	chr2:40773800-40774800	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr2:40774000-40774800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr2:40774200-40775000	Enhancers	Fetal Intestine Small	intestine
9	chr2:40774400-40774600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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