Variant report

Variant	rs34741640
Chromosome Location	chr2:20191250-20191251
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:20189602-20191288	HepG2	liver:	n/a	n/a
2	MAFK	chr2:20191181-20192295	GM12878	blood:	n/a	chr2:20191845-20191855 chr2:20191843-20191859 chr2:20191840-20191855 chr2:20191845-20191854 chr2:20191844-20191858 chr2:20191841-20191861 chr2:20191848-20191857

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:20099026..20101634-chr2:20189872..20192427,2	K562	blood:

Variant related genes	Relation type
WDR35	TF binding region
ENSG00000183891	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1115275	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11680554	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11681705	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11683973	0.87[AMR][1000 genomes]
rs11688098	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12986437	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12988913	0.87[AMR][1000 genomes]
rs12995324	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13005512	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13011870	0.82[AMR][1000 genomes]
rs13035048	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16987257	0.87[AMR][1000 genomes]
rs17695872	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2028208	0.87[AMR][1000 genomes]
rs28452699	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34400777	0.84[AMR][1000 genomes]
rs34595677	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35307726	0.84[AMR][1000 genomes]
rs35425971	0.80[EUR][1000 genomes]
rs35973216	0.82[EUR][1000 genomes]
rs66482567	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs66496755	0.80[AMR][1000 genomes]
rs6706311	0.84[AMR][1000 genomes]
rs67724270	0.84[AMR][1000 genomes]
rs67915887	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs721932	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs721933	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73214266	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006404	chr2:20167688-20216509	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1005431	chr2:20174676-20210163	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1011244	chr2:20174676-20216204	Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv3430914	chr2:20191211-20191450	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20190400-20191400	Flanking Active TSS	HepG2	liver
2	chr2:20190400-20194600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:20190400-20207400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:20190600-20192800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:20190600-20193200	Weak transcription	Fetal Lung	lung
6	chr2:20190600-20201000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:20190600-20211400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:20190800-20191400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:20190800-20191400	Enhancers	A549	lung
10	chr2:20190800-20195800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:20190800-20205000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:20190800-20208400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:20191000-20191400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:20191000-20211200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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