Variant report

Variant	rs57408442
Chromosome Location	chr5:100234775-100234776
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:100234012..100237081-chr5:100237134..100240433,4	MCF-7	breast:
2	chr5:100160740..100162427-chr5:100234185..100236458,2	K562	blood:
3	chr5:100226411..100229171-chr5:100233547..100235207,2	K562	blood:

Variant related genes	Relation type
ENSG00000113532	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs17161227	1.00[EUR][1000 genomes]
rs17161238	1.00[EUR][1000 genomes]
rs2548271	1.00[EUR][1000 genomes]
rs57030195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57051501	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57093790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57165646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58460894	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58972341	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59107693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59522996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61550483	1.00[EUR][1000 genomes]
rs6878351	1.00[EUR][1000 genomes]
rs6878887	1.00[EUR][1000 genomes]
rs6879241	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73157721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73157724	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73157726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73157755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73157793	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73159945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73159969	1.00[EUR][1000 genomes]
rs73159973	1.00[EUR][1000 genomes]
rs73159981	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73159982	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73159986	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73159988	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73159991	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73160421	1.00[EUR][1000 genomes]
rs73160425	1.00[EUR][1000 genomes]
rs73160500	1.00[EUR][1000 genomes]
rs73160501	1.00[EUR][1000 genomes]
rs73162260	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162263	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162293	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162409	1.00[EUR][1000 genomes]
rs73162427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162447	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73163618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73163629	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73163634	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73163646	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73163652	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73167380	0.89[AFR][1000 genomes];1.00[AMR][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	nsv1023765	chr5:99915011-100733755	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	esv1834675	chr5:100143084-100535029	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv882471	chr5:100234439-100362071	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv882472	chr5:100234439-100512338	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100208000-100235800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:100226400-100235600	Weak transcription	Placenta	Placenta
3	chr5:100227000-100235600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr5:100227200-100235600	Weak transcription	Fetal Lung	lung
5	chr5:100229200-100235400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr5:100230200-100235200	Enhancers	Primary T cells from cord blood	blood
7	chr5:100230800-100236400	Transcr. at gene 5' and 3'	Dnd41	blood
8	chr5:100231000-100235400	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr5:100231000-100235400	Weak transcription	HUVEC	blood vessel
10	chr5:100231200-100235400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr5:100231200-100235600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr5:100232000-100235600	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr5:100232200-100235400	Weak transcription	Fetal Thymus	thymus
14	chr5:100232400-100235000	Enhancers	Primary hematopoietic stem cells	blood
15	chr5:100232400-100235600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr5:100232600-100245600	Active TSS	GM12878-XiMat	blood
17	chr5:100232800-100235000	Enhancers	Osteobl	bone
18	chr5:100233000-100235400	Weak transcription	Fetal Brain Female	brain
19	chr5:100233000-100235600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr5:100233000-100235600	Weak transcription	NHDF-Ad	bronchial
21	chr5:100233600-100235600	Enhancers	Adipose Nuclei	Adipose
22	chr5:100233800-100234800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr5:100233800-100235400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr5:100233800-100235600	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr5:100234000-100235400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:100234000-100236200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr5:100234200-100234800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
28	chr5:100234200-100234800	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr5:100234200-100235200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr5:100234200-100235400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:100234200-100235400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr5:100234200-100235600	Genic enhancers	Primary B cells from peripheral blood	blood
33	chr5:100234200-100235600	Weak transcription	Fetal Muscle Leg	muscle
34	chr5:100234400-100235000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:100234400-100235000	Enhancers	Fetal Brain Male	brain
36	chr5:100234400-100236400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:100234600-100234800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:100234600-100234800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:100234600-100234800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:100234600-100234800	Active TSS	Brain Germinal Matrix	brain
41	chr5:100234600-100235000	Active TSS	Monocytes-CD14+_RO01746	blood
42	chr5:100234600-100235400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr5:100234600-100235400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr5:100234600-100235600	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr5:100234600-100235600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr5:100234600-100235600	Weak transcription	Thymus	Thymus
47	chr5:100234600-100235600	Weak transcription	HSMM	muscle
48	chr5:100234600-100235800	Weak transcription	Right Atrium	heart
49	chr5:100234600-100235800	Weak transcription	Spleen	Spleen
50	chr5:100234600-100236000	Weak transcription	Small Intestine	intestine

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