Variant report

Variant	rs1396050
Chromosome Location	chr4:48108227-48108228
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48107035..48109587-chr4:48114590..48117554,2	K562	blood:

Variant related genes	Relation type
ENSG00000074966	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1003872	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1003873	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12640722	0.95[AFR][1000 genomes]
rs2661525	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2940328	0.84[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	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

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48097800-48111800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr4:48103400-48114000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr4:48104400-48114000	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr4:48106000-48110000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr4:48106000-48110400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr4:48106000-48110800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:48106000-48110800	Weak transcription	NHEK	skin
8	chr4:48106000-48115600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:48106000-48129400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:48106200-48109400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr4:48106200-48109400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr4:48106200-48110800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr4:48106200-48111200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr4:48106200-48114200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr4:48107200-48109600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
16	chr4:48107400-48109400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr4:48107400-48114400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr4:48107800-48109600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr4:48108000-48109200	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr4:48108200-48109800	Weak transcription	Primary T cells from cord blood	blood

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