Variant report

Variant	rs28540917
Chromosome Location	chr4:48107126-48107127
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48107035..48109587-chr4:48114590..48117554,2	K562	blood:
2	chr4:48105485..48107311-chr4:48109938..48112634,2	MCF-7	breast:
3	chr4:47914195..47916266-chr4:48104648..48107155,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000074966	Chromatin interaction
ENSG00000253050	Chromatin interaction
ENSG00000163293	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1466997	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28831121	0.80[EUR][1000 genomes]
rs3792626	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3805185	0.93[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs56745145	0.80[AMR][1000 genomes];0.80[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	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	esv3430950	chr4:48105345-48107693	Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48088600-48107800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr4:48097800-48111800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr4:48103400-48114000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr4:48104400-48108000	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr4:48104400-48114000	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr4:48106000-48107400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr4:48106000-48110000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr4:48106000-48110400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr4:48106000-48110800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:48106000-48110800	Weak transcription	NHEK	skin
11	chr4:48106000-48115600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:48106000-48129400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr4:48106200-48107200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr4:48106200-48107400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr4:48106200-48107400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr4:48106200-48109400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr4:48106200-48109400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr4:48106200-48110800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr4:48106200-48111200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr4:48106200-48114200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr4:48106400-48107200	Weak transcription	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links