Variant report

Variant	rs12623646
Chromosome Location	chr2:152531464-152531465
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152530052..152532883-chr2:152536746..152539228,2	K562	blood:
2	chr2:152524436..152526394-chr2:152528690..152531514,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1022388	1.00[EUR][1000 genomes]
rs12612539	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12612655	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12618365	0.97[ASN][1000 genomes]
rs12619249	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12621850	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13413290	1.00[EUR][1000 genomes]
rs1356734	1.00[EUR][1000 genomes]
rs1519707	1.00[EUR][1000 genomes]
rs16830087	1.00[EUR][1000 genomes]
rs16830088	1.00[EUR][1000 genomes]
rs16830140	1.00[EUR][1000 genomes]
rs16830170	1.00[EUR][1000 genomes]
rs16830173	1.00[EUR][1000 genomes]
rs16830174	1.00[EUR][1000 genomes]
rs16830189	1.00[EUR][1000 genomes]
rs16830216	1.00[EUR][1000 genomes]
rs16830236	1.00[EUR][1000 genomes]
rs2460440	1.00[EUR][1000 genomes]
rs3213817	1.00[EUR][1000 genomes]
rs35967764	1.00[EUR][1000 genomes]
rs41525550	1.00[EUR][1000 genomes]
rs6730990	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7569133	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7608502	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs939238	1.00[EUR][1000 genomes]

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	nsv934136	chr2:152308156-152664443	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers 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	24 gene(s)	inside rSNPs	diseases
3	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv469804	chr2:152404429-152570882	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv482520	chr2:152404429-152570882	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv933357	chr2:152526786-152591138	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152504400-152531600	Weak transcription	Primary B cells from cord blood	blood
2	chr2:152505200-152543600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:152514600-152542800	Strong transcription	HSMMtube	muscle
4	chr2:152521600-152537800	Weak transcription	Psoas Muscle	Psoas
5	chr2:152525600-152533000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
6	chr2:152527200-152536400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:152527400-152532800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:152527800-152532800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:152529200-152550000	Weak transcription	Aorta	Aorta
10	chr2:152531000-152531600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
11	chr2:152531200-152532800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:152531400-152532800	Weak transcription	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links