Variant report

Variant	rs2630588
Chromosome Location	chr12:32201782-32201783
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:31867484..31869953-chr12:32200460..32203745,3	K562	blood:
2	chr12:32184129..32187066-chr12:32199349..32202275,2	K562	blood:
3	chr12:32199482..32202478-chr12:32260191..32262626,2	K562	blood:

Variant related genes	Relation type
ENSG00000151746	Chromatin interaction
ENSG00000151743	Chromatin interaction
ENSG00000257530	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11609494	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12227621	0.92[ASN][1000 genomes]
rs12227639	0.92[ASN][1000 genomes]
rs12296345	0.82[ASN][1000 genomes]
rs12309676	0.85[ASN][1000 genomes]
rs1260155	0.92[ASN][1000 genomes]
rs1260166	0.92[ASN][1000 genomes]
rs1272284	0.82[ASN][1000 genomes]
rs1684125	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1684126	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1798258	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1798576	0.92[ASN][1000 genomes]
rs1798589	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1798591	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1798600	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2243419	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2388966	0.92[ASN][1000 genomes]
rs2388967	0.92[ASN][1000 genomes]
rs2594033	0.88[ASN][1000 genomes]
rs2630564	0.85[ASN][1000 genomes]
rs2630592	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2652001	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2668285	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2668287	0.87[EUR][1000 genomes]
rs2683501	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2942082	0.92[ASN][1000 genomes]
rs4442627	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59062440	0.92[ASN][1000 genomes]
rs61926350	0.92[ASN][1000 genomes]
rs61926352	0.92[ASN][1000 genomes]
rs61926353	0.92[ASN][1000 genomes]
rs7303247	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7485882	0.92[ASN][1000 genomes]
rs901331	0.96[ASN][1000 genomes]
rs901332	0.96[ASN][1000 genomes]
rs901333	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv3430326	chr12:32142734-32216569	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	esv3410287	chr12:32142734-32219420	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv976030	chr12:32153446-32307541	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv983498	chr12:32153446-32388092	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv2761731	chr12:32177270-32206870	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	4 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	chr12:32195200-32204600	Weak transcription	Right Atrium	heart
2	chr12:32197400-32201800	Weak transcription	Ovary	ovary
3	chr12:32199000-32207200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:32200600-32204600	Weak transcription	HepG2	liver
5	chr12:32200800-32204000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:32201200-32201800	Weak transcription	Fetal Intestine Small	intestine
7	chr12:32201400-32201800	Enhancers	K562	blood
8	chr12:32201600-32202000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:32201600-32202800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links