Variant report

Variant	rs2352589
Chromosome Location	chr4:48081545-48081546
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1007201	1.00[EUR][1000 genomes]
rs12108541	1.00[EUR][1000 genomes]
rs13137752	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1396054	1.00[EUR][1000 genomes]
rs1507916	1.00[EUR][1000 genomes]
rs16861040	1.00[EUR][1000 genomes]
rs16861070	1.00[EUR][1000 genomes]
rs16861073	1.00[EUR][1000 genomes]
rs16861090	1.00[EUR][1000 genomes]
rs34518985	1.00[EUR][1000 genomes]
rs3852106	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56143759	1.00[EUR][1000 genomes]
rs56146268	1.00[EUR][1000 genomes]
rs56285596	1.00[EUR][1000 genomes]
rs56935320	1.00[EUR][1000 genomes]
rs57619089	1.00[EUR][1000 genomes]
rs61599433	1.00[EUR][1000 genomes]
rs6814039	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6832750	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6858664	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48067000-48082000	Strong transcription	Primary T cells from cord blood	blood
2	chr4:48067600-48102400	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr4:48067800-48081600	Strong transcription	Primary T helper cells PMA-I stimulated	--
4	chr4:48069600-48082600	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr4:48069800-48088000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:48070800-48105200	Weak transcription	GM12878-XiMat	blood
7	chr4:48073800-48088000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr4:48073800-48088000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:48075800-48082000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr4:48076400-48081800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:48076600-48082200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr4:48076600-48092400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr4:48076800-48081600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:48077200-48082000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr4:48077400-48082000	Weak transcription	Stomach Mucosa	stomach
16	chr4:48079000-48084600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr4:48079000-48087400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr4:48080000-48082000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr4:48080200-48081800	Enhancers	Placenta	Placenta
20	chr4:48080400-48081600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr4:48080600-48084600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:48080600-48084600	Enhancers	Hela-S3	cervix
23	chr4:48080600-48085200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr4:48080800-48082000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr4:48081200-48081800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr4:48081400-48081600	Enhancers	Pancreas	Pancrea
27	chr4:48081400-48081600	Enhancers	HUVEC	blood vessel
28	chr4:48081400-48081800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:48081400-48082600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:48081400-48082600	Enhancers	HMEC	breast
31	chr4:48081400-48082800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:48081400-48083400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:48081400-48083400	Enhancers	NHEK	skin

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