Variant report

Variant	rs4316939
Chromosome Location	chr2:152525120-152525121
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:152524436..152526394-chr2:152528690..152531514,2	K562	blood:
2	chr2:152524436..152527296-chr2:152527815..152531514,4	K562	blood:
3	chr2:152524121..152525748-chr2:152608304..152610804,2	K562	blood:
4	chr2:152524660..152526249-chr2:152545100..152547655,2	K562	blood:

Variant related genes	Relation type
ENSG00000183091	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10165921	0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10185966	0.86[JPT][hapmap]
rs11682909	0.80[JPT][hapmap]
rs11894672	0.86[JPT][hapmap]
rs11896217	0.85[JPT][hapmap]
rs12472627	0.88[CEU][hapmap];0.85[JPT][hapmap]
rs12618063	1.00[CEU][hapmap];0.81[YRI][hapmap];0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1523181	0.86[JPT][hapmap]
rs1916301	0.82[JPT][hapmap]
rs34577613	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3768658	0.91[JPT][hapmap]
rs4300824	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4393745	0.85[JPT][hapmap]
rs4414677	0.88[CEU][hapmap];0.85[JPT][hapmap]
rs4453694	0.95[JPT][hapmap]
rs4510224	0.85[JPT][hapmap]
rs4536649	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs4664066	0.85[JPT][hapmap]
rs4664496	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4664498	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4664499	0.95[JPT][hapmap]
rs58903550	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6433590	0.91[JPT][hapmap]
rs6711382	1.00[CEU][hapmap];0.91[JPT][hapmap];0.97[EUR][1000 genomes]
rs6712443	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6712533	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7424335	0.88[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7564024	0.81[ASN][1000 genomes]
rs9288006	0.91[JPT][hapmap]

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	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

No data

Chromatin state (count:16 , 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	chr2:152511200-152531200	Strong transcription	Fetal Muscle Trunk	muscle
4	chr2:152511400-152531400	Strong transcription	Fetal Muscle Leg	muscle
5	chr2:152511600-152525800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:152514600-152542800	Strong transcription	HSMMtube	muscle
7	chr2:152515200-152525400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:152515400-152529000	Weak transcription	Aorta	Aorta
9	chr2:152520400-152528600	Weak transcription	Brain Anterior Caudate	brain
10	chr2:152521600-152537800	Weak transcription	Psoas Muscle	Psoas
11	chr2:152522200-152526000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:152522600-152527400	Weak transcription	Spleen	Spleen
13	chr2:152522800-152525600	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:152522800-152525800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:152523400-152526400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr2:152524000-152525400	Strong transcription	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links