Variant report

Variant	rs7329629
Chromosome Location	chr13:48766554-48766555
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	chr13:48759722..48761535-chr13:48765446..48768314,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1749976	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1925747	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182220	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2406802	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2406804	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2765074	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2765075	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4942753	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4942754	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4942757	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs607954	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7988534	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7989671	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7993868	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7994141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7995410	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9534969	0.86[ASN][1000 genomes]
rs9534978	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9534979	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9534983	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9534988	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541766	chr13:48703229-48857639	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv3327569	chr13:48743550-48798094	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1043294	chr13:48762477-48810028	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
4	nsv1031	chr13:48766510-48790172	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48762600-48766800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr13:48762600-48767400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr13:48762600-48767400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr13:48762800-48767000	Weak transcription	Primary B cells from cord blood	blood
5	chr13:48763400-48768000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr13:48763600-48767800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr13:48763800-48766600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr13:48763800-48766600	Enhancers	Fetal Intestine Large	intestine
9	chr13:48764200-48766600	Enhancers	Fetal Intestine Small	intestine
10	chr13:48764800-48774600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr13:48765600-48768000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr13:48766000-48768000	Weak transcription	HepG2	liver
13	chr13:48766200-48768200	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr13:48766400-48766800	Enhancers	Primary T cells fromperipheralblood	blood
15	chr13:48766400-48766800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr13:48766400-48766800	Enhancers	Lung	lung
17	chr13:48766400-48766800	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr13:48766400-48767000	Enhancers	Primary B cells from peripheral blood	blood
19	chr13:48766400-48768800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr13:48766400-48769000	Enhancers	Primary T cells from cord blood	blood
21	chr13:48766400-48769000	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr13:48766400-48769000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr13:48766400-48769000	Enhancers	Primary T helper cells PMA-I stimulated	--

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