Variant report

Variant	rs213510
Chromosome Location	chr5:94990558-94990559
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:94989629-94992234	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:94977116..95012475-chr5:95055682..95079552,215	K562	blood:
2	chr5:94989853..94992111-chr5:95045492..95049790,4	K562	blood:
3	chr5:94980512..95018354-chr5:95057997..95080764,228	K562	blood:
4	chr5:94989853..94992111-chr5:95045492..95049282,3	K562	blood:
5	chr5:94984626..94986883-chr5:94989979..94992621,3	MCF-7	breast:

No data

Variant related genes	Relation type
RFESD	TF binding region
ENSG00000250240	Chromatin interaction
ENSG00000164292	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10063774	0.87[CEU][hapmap];0.95[CHB][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12658215	0.81[JPT][hapmap]
rs13166682	0.96[CEU][hapmap];0.95[CHB][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13172592	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13179768	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs150548	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs150549	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs150550	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs185313	0.83[JPT][hapmap]
rs213507	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs213508	0.87[CEU][hapmap];0.95[CHB][hapmap];0.84[GIH][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs213509	0.94[CHB][hapmap];0.80[JPT][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs213511	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs213512	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs213880	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs213885	0.96[CEU][hapmap];0.95[CHB][hapmap];0.97[GIH][hapmap];0.82[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs213887	0.87[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs213888	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2548121	0.81[JPT][hapmap]
rs34901	0.81[JPT][hapmap]
rs411817	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[GIH][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs412026	0.96[CEU][hapmap];0.95[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs440342	0.95[CHB][hapmap];0.93[ASN][1000 genomes]
rs460697	0.82[JPT][hapmap]
rs461873	0.81[JPT][hapmap]
rs4869245	0.80[CEU][hapmap];0.90[CHB][hapmap];0.89[ASN][1000 genomes]
rs6865873	0.96[CEU][hapmap];0.95[CHB][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6890832	0.87[CEU][hapmap];0.95[CHB][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598955	chr5:94903453-95136019	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS 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 miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94983200-95005000	Weak transcription	Left Ventricle	heart
2	chr5:94983400-95005000	Weak transcription	Placenta	Placenta
3	chr5:94983600-94991000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:94983600-94991000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr5:94983600-94991000	Weak transcription	Thymus	Thymus
6	chr5:94983600-94999800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr5:94983600-95000000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:94983600-95000000	Weak transcription	Brain Hippocampus Middle	brain
9	chr5:94983600-95000200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr5:94983600-95005000	Weak transcription	Adipose Nuclei	Adipose
11	chr5:94983800-94991000	Weak transcription	Fetal Thymus	thymus
12	chr5:94983800-94991200	Weak transcription	Fetal Lung	lung
13	chr5:94983800-94999800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:94983800-94999800	Weak transcription	Colon Smooth Muscle	Colon
15	chr5:94983800-95000000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr5:94983800-95004800	Weak transcription	Psoas Muscle	Psoas
17	chr5:94984200-94990800	Weak transcription	Fetal Heart	heart
18	chr5:94984200-94991400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr5:94984200-94999800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr5:94984200-94999800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr5:94984200-95007800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr5:94984600-94991000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr5:94984600-94992600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr5:94984600-94999800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr5:94985200-94991000	Weak transcription	Dnd41	blood
26	chr5:94987800-94992200	Strong transcription	Primary T cells from cord blood	blood
27	chr5:94988000-94991600	Strong transcription	Primary B cells from cord blood	blood
28	chr5:94988600-94991800	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr5:94988600-94993600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr5:94989000-94990800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:94989000-94991200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr5:94989000-94991400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:94989000-94993200	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr5:94989000-95004800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr5:94989200-94999800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr5:94989400-94990800	Strong transcription	K562	blood
37	chr5:94989400-94991200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:94989400-94995800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr5:94989800-94990800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:94990000-94991200	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr5:94990200-94991200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr5:94990400-95000200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links