Variant report

Variant	rs13403822
Chromosome Location	chr2:172903124-172903125
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172902218..172904158-chr2:172948537..172951197,2	K562	blood:
2	chr2:172901732..172906441-chr2:172911766..172917938,8	K562	blood:
3	chr2:172863850..172866643-chr2:172902053..172905217,4	MCF-7	breast:
4	chr2:172900609..172903455-chr2:172958625..172961122,3	MCF-7	breast:
5	chr2:172901921..172905424-chr2:172916575..172920187,5	MCF-7	breast:
6	chr2:172901825..172905111-chr2:172958470..172962198,5	MCF-7	breast:
7	chr2:172900542..172905634-chr2:172946761..172951890,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144355	Chromatin interaction
ENSG00000172878	Chromatin interaction
ENSG00000115840	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10167594	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10171214	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs1038564	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10497377	0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap]
rs10930503	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11892858	0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs12616766	0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs12622144	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap]
rs13394991	0.90[ASN][1000 genomes]
rs17581610	0.91[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs17615589	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs17615607	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs3796058	0.91[JPT][hapmap]
rs59609380	0.91[ASN][1000 genomes]
rs60491745	0.81[ASN][1000 genomes]
rs6751078	0.91[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.91[ASN][1000 genomes]
rs705870	0.81[JPT][hapmap]
rs788164	0.91[JPT][hapmap]
rs9973494	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9973784	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][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	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1012188	chr2:172855923-172928891	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv1798626	chr2:172900948-172909852	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv875412	chr2:172903124-172942448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172901200-172907400	Weak transcription	Fetal Kidney	kidney
2	chr2:172901600-172903600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:172902000-172903800	Enhancers	K562	blood
4	chr2:172902400-172903400	Enhancers	Hela-S3	cervix
5	chr2:172902400-172904600	Enhancers	Osteobl	bone
6	chr2:172902600-172904400	Enhancers	NHDF-Ad	bronchial
7	chr2:172902600-172904600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:172902600-172904600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:172902600-172904600	Enhancers	NHEK	skin
10	chr2:172902800-172903800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr2:172902800-172904400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:172902800-172904600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:172903000-172904400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:172903000-172904600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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