Variant report

Variant	rs12145368
Chromosome Location	chr1:171229681-171229682
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:171219588..171221486-chr1:171228778..171230328,2	K562	blood:
2	chr1:171223210..171225976-chr1:171227419..171229692,2	MCF-7	breast:
3	chr1:171219588..171222803-chr1:171228778..171230564,3	K562	blood:

Variant related genes	Relation type
ENSG00000231424	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12065835	1.00[CEU][hapmap];0.85[GIH][hapmap]
rs12139312	0.83[EUR][1000 genomes]
rs12141357	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12142448	1.00[CEU][hapmap];0.85[GIH][hapmap]
rs12142492	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12144402	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28360369	1.00[EUR][1000 genomes]
rs28384856	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28384863	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs36104491	1.00[AFR][1000 genomes]
rs6674736	1.00[CEU][hapmap];0.85[GIH][hapmap]
rs6699345	1.00[CEU][hapmap];0.85[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv831882	chr1:171166224-171326083	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171227800-171230600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:171228200-171232600	Weak transcription	Placenta	Placenta
3	chr1:171228200-171232600	Weak transcription	Fetal Stomach	stomach
4	chr1:171228400-171233000	Strong transcription	Fetal Intestine Large	intestine
5	chr1:171228600-171230000	Strong transcription	Fetal Intestine Small	intestine
6	chr1:171228600-171230400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:171228600-171232400	Weak transcription	Fetal Lung	lung
8	chr1:171228600-171232800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:171228600-171233000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:171228600-171235200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:171228800-171231000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:171228800-171233000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:171228800-171244400	Weak transcription	Fetal Kidney	kidney
14	chr1:171229000-171230200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:171229000-171230400	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:171229200-171230200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:171229200-171230400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:171229200-171232400	Weak transcription	Ovary	ovary
19	chr1:171229200-171234600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:171229400-171235000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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