Variant report

Variant	rs73162293
Chromosome Location	chr5:100240762-100240763
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:100235332-100240774	GM12892	blood:	n/a	n/a
2	MXI1	chr5:100240732-100241861	GM12878	blood:	n/a	n/a
3	MTA3	chr5:100235381-100240793	GM12878	blood:	n/a	n/a
4	POLR2A	chr5:100233971-100241412	GM18505	blood:	n/a	n/a
5	POLR2A	chr5:100232586-100241372	GM12891	blood:	n/a	n/a
6	CHD1	chr5:100234019-100241405	GM12878	blood:	n/a	n/a
7	POLR2A	chr5:100235363-100241328	GM12878	blood:	n/a	n/a
8	POLR2A	chr5:100235479-100241390	GM18526	blood:	n/a	n/a
9	RELA	chr5:100235704-100241391	GM12878	blood:	n/a	n/a
10	NFIC	chr5:100240000-100240763	GM12878	blood:	n/a	n/a
11	POLR2A	chr5:100235627-100241386	GM19193	blood:	n/a	n/a
12	MAZ	chr5:100238705-100241432	GM12878	blood:	n/a	n/a
13	POLR2A	chr5:100232873-100241342	GM12878	blood:	n/a	n/a
14	POLR2A	chr5:100235359-100240778	GM12892	blood:	n/a	n/a
15	RELA	chr5:100235691-100241304	GM15510	blood:	n/a	n/a
16	NFIC	chr5:100235562-100241309	GM12878	blood:	n/a	chr5:100236970-100236987
17	POLR2A	chr5:100232157-100241417	GM12878	blood:	n/a	n/a
18	POLR2A	chr5:100235006-100241369	GM19099	blood:	n/a	n/a

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:

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	0.89[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	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57165646	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57408442	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58460894	0.80[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	0.89[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	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73157724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73157726	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73157755	0.89[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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162268	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162273	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162274	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162277	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162285	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162291	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162294	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162302	0.89[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	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:48 , 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	chr5:100235800-100241000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:100235800-100241400	Active TSS	Right Atrium	heart
5	chr5:100236000-100240800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
6	chr5:100236200-100240800	Active TSS	Primary T helper naive cells from peripheral blood	blood
7	chr5:100236200-100241200	Active TSS	Liver	Liver
8	chr5:100236200-100241400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
9	chr5:100236600-100240800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
10	chr5:100237200-100241000	Active TSS	Left Ventricle	heart
11	chr5:100237200-100241400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr5:100237400-100240800	Active TSS	Psoas Muscle	Psoas
13	chr5:100237600-100241200	Active TSS	Dnd41	blood
14	chr5:100238200-100241800	Active TSS	K562	blood
15	chr5:100238400-100240800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr5:100238600-100240800	Active TSS	Brain Cingulate Gyrus	brain
17	chr5:100238800-100241600	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr5:100239200-100241000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:100239200-100241200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:100239200-100241400	Active TSS	Rectal Smooth Muscle	rectum
21	chr5:100239400-100240800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
22	chr5:100239400-100240800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
23	chr5:100239400-100240800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr5:100239400-100241000	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr5:100239400-100241200	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr5:100239400-100241200	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr5:100239400-100241400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr5:100239600-100240800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
29	chr5:100239800-100241000	Active TSS	Adipose Nuclei	Adipose
30	chr5:100239800-100241400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:100240000-100241200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:100240000-100241200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr5:100240000-100241400	Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr5:100240200-100240800	Bivalent/Poised TSS	Fetal Lung	lung
35	chr5:100240200-100241200	Flanking Active TSS	Fetal Thymus	thymus
36	chr5:100240200-100241400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr5:100240400-100240800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr5:100240400-100240800	Enhancers	Colonic Mucosa	Colon
39	chr5:100240400-100240800	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr5:100240400-100240800	Active TSS	Placenta	Placenta
41	chr5:100240400-100241200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr5:100240400-100241400	Flanking Active TSS	Primary B cells from peripheral blood	blood
43	chr5:100240400-100241400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr5:100240600-100240800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr5:100240600-100241000	Flanking Active TSS	Thymus	Thymus
46	chr5:100240600-100241400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr5:100240600-100241400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr5:100240600-100241400	Active TSS	Rectal Mucosa Donor 31	rectum

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