Variant report

Variant	rs1843371
Chromosome Location	chr12:104454042-104454043
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr12:104453694-104454182	HL-60	blood:	n/a	n/a
2	SPI1	chr12:104453771-104454194	HL-60	blood:	n/a	n/a
3	RUNX3	chr12:104453709-104454056	GM12878	blood:	n/a	n/a
4	SPI1	chr12:104453822-104454061	GM12878	blood:	n/a	n/a
5	SPI1	chr12:104453789-104454049	GM12891	blood:	n/a	n/a
6	SPI1	chr12:104453772-104454087	GM12891	blood:	n/a	n/a
7	RUNX3	chr12:104453766-104454126	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104451742..104455414-chr12:104456321..104460021,5	MCF-7	breast:
2	chr12:104452639..104455206-chr12:104456175..104458752,4	K562	blood:
3	chr12:104451669..104454495-chr12:104456278..104458343,4	K562	blood:
4	chr12:104357461..104360390-chr12:104451757..104454409,2	K562	blood:
5	chr12:104451673..104455658-chr12:104456016..104458451,4	MCF-7	breast:

No data

Variant related genes	Relation type
HCFC2	TF binding region
ENSG00000139372	Chromatin interaction
ENSG00000204954	Chromatin interaction
ENSG00000111727	Chromatin interaction
ENSG00000120820	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11111878	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1564892	0.84[MEX][hapmap]
rs17035146	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1905849	0.93[AFR][1000 genomes]
rs1920410	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1920411	0.83[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1920412	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2220210	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4423256	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7961041	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][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	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 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	chr12:104444400-104457400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:104449600-104457000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:104450000-104456800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:104450200-104457400	Weak transcription	Pancreas	Pancrea
5	chr12:104450400-104456800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:104450400-104457200	Weak transcription	Adipose Nuclei	Adipose
7	chr12:104450400-104457400	Weak transcription	HSMMtube	muscle
8	chr12:104450800-104457400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr12:104451800-104454200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr12:104453200-104454400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:104453200-104454400	Weak transcription	NHEK	skin
12	chr12:104453200-104457200	Weak transcription	Placenta	Placenta
13	chr12:104453400-104454200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:104453400-104456800	Weak transcription	HMEC	breast
15	chr12:104453600-104454200	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr12:104453800-104454600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:104454000-104454200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:104454000-104454200	Enhancers	GM12878-XiMat	blood
19	chr12:104454000-104455000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:104454000-104456600	Weak transcription	Esophagus	oesophagus

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