Variant report

Variant	rs13390935
Chromosome Location	chr2:233795434-233795435
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	chr2:233792964..233795634-chr2:233797623..233799367,2	K562	blood:
2	chr2:233790048..233791601-chr2:233794420..233796079,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10207739	0.86[CHB][hapmap]
rs11684636	0.86[CHB][hapmap]
rs12328140	0.81[CEU][hapmap]
rs13035517	0.82[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs13383733	0.86[CHB][hapmap]
rs13387762	0.86[CHB][hapmap]
rs13391061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13401578	0.89[CHB][hapmap]
rs13423949	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13424896	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13425918	0.86[CHB][hapmap]
rs1446307	0.88[CHB][hapmap]
rs2289915	0.89[CHB][hapmap]
rs2292724	0.81[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2292725	0.81[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2293782	0.89[CHB][hapmap]
rs34063802	0.86[CHB][hapmap]
rs55649298	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67267176	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs751908	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9288675	0.86[CHB][hapmap]
rs9288676	0.82[CEU][hapmap];0.86[CHB][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	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3377192	chr2:233758324-233835472	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1014548	chr2:233777859-233816018	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	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	chr2:233791600-233798200	Weak transcription	HepG2	liver
2	chr2:233792400-233796000	Weak transcription	HSMMtube	muscle
3	chr2:233792400-233798000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:233793400-233795800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:233793400-233796000	Weak transcription	Right Atrium	heart
6	chr2:233793600-233805600	Weak transcription	Liver	Liver
7	chr2:233793600-233806400	Weak transcription	Gastric	stomach
8	chr2:233794400-233835800	Weak transcription	Pancreas	Pancrea
9	chr2:233794600-233806600	Weak transcription	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links