Variant report

Variant	rs2099261
Chromosome Location	chr2:38870041-38870042
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:38828500..38834187-chr2:38868147..38872142,7	K562	blood:
2	chr2:38869520..38871191-chr2:38897792..38900773,2	K562	blood:
3	chr2:38865694..38869051-chr2:38869356..38872589,6	K562	blood:
4	chr2:38867821..38870295-chr2:38895225..38897165,2	K562	blood:
5	chr2:38825926..38832179-chr2:38868147..38876106,18	K562	blood:
6	chr2:38826349..38827886-chr2:38868902..38871204,2	K562	blood:
7	chr2:38823810..38825373-chr2:38867072..38871026,3	K562	blood:
8	chr2:38838640..38841229-chr2:38869315..38872620,3	K562	blood:
9	chr2:38866346..38869051-chr2:38869593..38871787,4	K562	blood:
10	chr2:38868989..38871119-chr2:38916647..38918525,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000235586	Chromatin interaction
ENSG00000232518	Chromatin interaction
ENSG00000143889	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs13011896	0.81[EUR][1000 genomes]
rs13032371	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13393767	0.85[ASN][1000 genomes]
rs13412171	0.85[ASN][1000 genomes]
rs13421362	0.84[ASN][1000 genomes]
rs13432435	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13432610	0.85[ASN][1000 genomes]
rs17022996	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2003209	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2217537	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2373421	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34450185	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36057155	0.86[ASN][1000 genomes]
rs6544169	0.84[ASN][1000 genomes]
rs6544171	0.87[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6717958	0.83[ASN][1000 genomes]
rs6721860	0.81[ASN][1000 genomes]
rs67326552	0.83[EUR][1000 genomes]
rs6733950	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6735134	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6745646	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6757844	0.85[ASN][1000 genomes]
rs67772386	0.81[ASN][1000 genomes]
rs7561778	0.83[EUR][1000 genomes]
rs7562949	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7566698	0.86[ASN][1000 genomes]
rs7600802	0.83[EUR][1000 genomes]
rs7609065	0.90[ASN][1000 genomes]
rs891706	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	nsv873881	chr2:38745624-38877636	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv581484	chr2:38799820-38874177	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv581485	chr2:38839323-38893660	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv873882	chr2:38858669-38921498	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv2762495	chr2:38861095-38886391	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38862800-38870200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:38865200-38870200	Weak transcription	Spleen	Spleen
3	chr2:38869200-38870600	Enhancers	Dnd41	blood
4	chr2:38869600-38870800	Weak transcription	HepG2	liver
5	chr2:38869600-38871000	ZNF genes & repeats	Fetal Thymus	thymus
6	chr2:38869600-38872200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:38869800-38870600	Enhancers	K562	blood
8	chr2:38869800-38871000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:38870000-38870400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:38870000-38870800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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