Variant report

Variant	rs4668372
Chromosome Location	chr2:172068140-172068141
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172009844..172011801-chr2:172066208..172069012,2	K562	blood:
2	chr2:172067798..172069375-chr2:172288988..172290939,2	K562	blood:

Variant related genes	Relation type
ENSG00000123600	Chromatin interaction
ENSG00000115827	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11887065	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11887508	0.80[EUR][1000 genomes]
rs11893921	0.84[EUR][1000 genomes]
rs11893993	0.81[EUR][1000 genomes]
rs12473405	0.81[EUR][1000 genomes]
rs12614003	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4668373	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4668374	0.88[EUR][1000 genomes]
rs4668375	0.82[EUR][1000 genomes]
rs60254168	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6433284	0.84[EUR][1000 genomes]
rs6713640	0.90[EUR][1000 genomes]
rs6724085	0.81[EUR][1000 genomes]
rs6737873	0.80[EUR][1000 genomes]
rs7568175	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7582508	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv979348	chr2:172057884-172068984	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
2	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172065600-172068800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr2:172065600-172069200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:172066400-172068200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:172067000-172068200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:172067000-172068200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:172067000-172070000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr2:172067200-172068200	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr2:172067200-172068200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:172067200-172068200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr2:172067200-172068200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr2:172067400-172068200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:172067400-172068200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr2:172067400-172068200	Flanking Active TSS	Dnd41	blood
14	chr2:172067400-172068400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:172067600-172068200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr2:172067600-172068600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:172067600-172068800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr2:172067600-172071200	Enhancers	K562	blood
19	chr2:172067800-172068200	Enhancers	Primary B cells from cord blood	blood
20	chr2:172067800-172068600	Enhancers	Primary hematopoietic stem cells	blood
21	chr2:172067800-172069000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:172067800-172069200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:172067800-172070800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr2:172067800-172071000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:172067800-172073400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:172068000-172068200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:172068000-172068200	Enhancers	Primary B cells from peripheral blood	blood
28	chr2:172068000-172068200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr2:172068000-172068200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr2:172068000-172068200	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr2:172068000-172068200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr2:172068000-172068200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:172068000-172068200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:172068000-172068200	Enhancers	Thymus	Thymus
35	chr2:172068000-172068200	Enhancers	GM12878-XiMat	blood
36	chr2:172068000-172068400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr2:172068000-172068800	Enhancers	Primary T cells fromperipheralblood	blood
38	chr2:172068000-172068800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr2:172068000-172068800	Enhancers	Fetal Thymus	thymus
40	chr2:172068000-172070800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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