Variant report

Variant	rs73162294
Chromosome Location	chr5:100241093-100241094
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr5:100240732-100241861	GM12878	blood:	n/a	n/a
2	MAX	chr5:100240820-100241354	NB4	blood:	n/a	n/a
3	POLR2A	chr5:100233971-100241412	GM18505	blood:	n/a	n/a
4	POLR2A	chr5:100241015-100241286	GM12892	blood:	n/a	n/a
5	POLR2A	chr5:100232586-100241372	GM12891	blood:	n/a	n/a
6	POLR2A	chr5:100240907-100241306	GM12892	blood:	n/a	n/a
7	CHD1	chr5:100234019-100241405	GM12878	blood:	n/a	n/a
8	ELF1	chr5:100240979-100241192	K562	blood:	n/a	chr5:100241121-100241134
9	POLR2A	chr5:100235363-100241328	GM12878	blood:	n/a	n/a
10	POLR2A	chr5:100235479-100241390	GM18526	blood:	n/a	n/a
11	RELA	chr5:100235704-100241391	GM12878	blood:	n/a	n/a
12	POLR2A	chr5:100240810-100241404	GM12892	blood:	n/a	n/a
13	MYC	chr5:100240924-100241249	NB4	blood:	n/a	n/a
14	IKZF1	chr5:100241069-100241435	GM12878	blood:	n/a	n/a
15	POLR2A	chr5:100235627-100241386	GM19193	blood:	n/a	n/a
16	ZNF143	chr5:100241001-100241304	GM12878	blood:	n/a	n/a
17	WRNIP1	chr5:100241022-100241380	GM12878	blood:	n/a	n/a
18	MAZ	chr5:100238705-100241432	GM12878	blood:	n/a	n/a
19	POLR2A	chr5:100232873-100241342	GM12878	blood:	n/a	n/a
20	ELK1	chr5:100240910-100241305	GM12878	blood:	n/a	n/a
21	POLR2A	chr5:100241019-100241282	GM12891	blood:	n/a	n/a
22	RELA	chr5:100235691-100241304	GM15510	blood:	n/a	n/a
23	NFIC	chr5:100235562-100241309	GM12878	blood:	n/a	chr5:100236970-100236987
24	STAT1	chr5:100240769-100241265	GM12878	blood:	n/a	n/a
25	POLR2A	chr5:100240873-100241394	GM12878	blood:	n/a	n/a
26	POLR2A	chr5:100232157-100241417	GM12878	blood:	n/a	n/a
27	POLR2A	chr5:100235006-100241369	GM19099	blood:	n/a	n/a
28	RUNX3	chr5:100241061-100241484	GM12878	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:100235471..100237177-chr5:100239022..100241293,2	MCF-7	breast:
2	chr5:100240183..100242753-chr5:100246346..100248554,2	K562	blood:

No data

Variant related genes	Relation type
ST8SIA4	TF binding region

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]
rs57408442	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]
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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100232600-100245600	Active TSS	GM12878-XiMat	blood
2	chr5:100235400-100241400	Active TSS	Duodenum Mucosa	Duodenum
3	chr5:100235800-100241400	Active TSS	Right Atrium	heart
4	chr5:100236200-100241200	Active TSS	Liver	Liver
5	chr5:100236200-100241400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
6	chr5:100237200-100241400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr5:100237600-100241200	Active TSS	Dnd41	blood
8	chr5:100238200-100241800	Active TSS	K562	blood
9	chr5:100238800-100241600	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr5:100239200-100241200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:100239200-100241400	Active TSS	Rectal Smooth Muscle	rectum
12	chr5:100239400-100241200	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr5:100239400-100241200	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr5:100239400-100241400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr5:100239800-100241400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:100240000-100241200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:100240000-100241200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:100240000-100241400	Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr5:100240200-100241200	Flanking Active TSS	Fetal Thymus	thymus
20	chr5:100240200-100241400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr5:100240400-100241200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr5:100240400-100241400	Flanking Active TSS	Primary B cells from peripheral blood	blood
23	chr5:100240400-100241400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr5:100240600-100241400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr5:100240600-100241400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr5:100240600-100241400	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr5:100240800-100241200	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr5:100240800-100241200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr5:100240800-100241200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr5:100240800-100241400	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr5:100241000-100241200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr5:100241000-100241200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr5:100241000-100241200	Active TSS	Primary hematopoietic stem cells	blood
34	chr5:100241000-100241200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr5:100241000-100241200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr5:100241000-100241200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr5:100241000-100241200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
38	chr5:100241000-100241200	Flanking Active TSS	Left Ventricle	heart
39	chr5:100241000-100241400	Active TSS	Thymus	Thymus
40	chr5:100241000-100241600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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