Variant report

Variant	rs59340312
Chromosome Location	chr2:98320870-98320871
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98277866..98283604-chr2:98316329..98321534,8	K562	blood:
2	chr2:98319886..98321866-chr2:98325501..98328367,2	K562	blood:

Variant related genes	Relation type
ENSG00000115073	Chromatin interaction
ENSG00000201806	Chromatin interaction
ENSG00000228486	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10460480	1.00[AMR][1000 genomes]
rs17022096	1.00[AMR][1000 genomes]
rs17022495	1.00[AMR][1000 genomes]
rs17028435	1.00[AMR][1000 genomes]
rs17028568	1.00[AMR][1000 genomes]
rs17028640	1.00[AMR][1000 genomes]
rs17031009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2167008	1.00[AMR][1000 genomes]
rs55637939	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56045386	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56381875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56717024	1.00[AMR][1000 genomes]
rs56894046	1.00[AMR][1000 genomes]
rs57002448	1.00[AMR][1000 genomes]
rs57004424	0.82[AFR][1000 genomes]
rs57183691	1.00[AMR][1000 genomes]
rs57708882	0.84[AFR][1000 genomes]
rs57875000	1.00[AMR][1000 genomes]
rs58059561	1.00[AMR][1000 genomes]
rs58753916	1.00[AMR][1000 genomes]
rs59134572	1.00[AMR][1000 genomes]
rs60599690	1.00[AMR][1000 genomes]
rs60713338	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61016336	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951140	1.00[AMR][1000 genomes]
rs73959761	1.00[AMR][1000 genomes]
rs73959772	1.00[AMR][1000 genomes]
rs9678135	1.00[AMR][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	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
2	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
3	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv874696	chr2:98309882-98362907	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv33510	chr2:98317103-98341302	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98281000-98323800	Weak transcription	Gastric	stomach
2	chr2:98306000-98322400	Weak transcription	Fetal Stomach	stomach
3	chr2:98312800-98324600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:98316400-98324000	Weak transcription	Pancreas	Pancrea
5	chr2:98318000-98324000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:98318600-98323800	Weak transcription	Fetal Muscle Leg	muscle

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