Variant report

Variant	rs73162285
Chromosome Location	chr5:100236337-100236338
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:100226559..100228152-chr5:100235251..100237203,2	MCF-7	breast:
2	chr5:100234012..100237081-chr5:100237134..100240433,4	MCF-7	breast:
3	chr5:100235471..100237177-chr5:100239022..100241293,2	MCF-7	breast:
4	chr5:100160740..100162427-chr5:100234185..100236458,2	K562	blood:

Variant related genes	Relation type
ENSG00000113532	Chromatin interaction

Extended variants
information (count: 57 )
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]
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:5 , 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
5	esv3333403	chr5:100235653-100237701	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100230800-100236400	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr5:100232600-100245600	Active TSS	GM12878-XiMat	blood
3	chr5:100234400-100236400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:100235000-100236400	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr5:100235000-100236400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr5:100235400-100236400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
7	chr5:100235400-100236400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:100235400-100237000	Active TSS	Rectal Mucosa Donor 31	rectum
9	chr5:100235400-100237400	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr5:100235400-100241400	Active TSS	Duodenum Mucosa	Duodenum
11	chr5:100235600-100236400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr5:100235600-100236400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr5:100235600-100236400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr5:100235600-100236400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:100235600-100236400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr5:100235600-100236400	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr5:100235600-100236400	Flanking Active TSS	Fetal Thymus	thymus
18	chr5:100235600-100236400	Flanking Active TSS	HUVEC	blood vessel
19	chr5:100235600-100236800	Active TSS	NHEK	skin
20	chr5:100235600-100237000	Active TSS	K562	blood
21	chr5:100235600-100237200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr5:100235600-100238800	Active TSS	Rectal Smooth Muscle	rectum
23	chr5:100235600-100239000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:100235600-100240400	Active TSS	Brain Angular Gyrus	brain
25	chr5:100235600-100240600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
26	chr5:100235600-100240600	Active TSS	Thymus	Thymus
27	chr5:100235800-100236400	Flanking Active TSS	Primary B cells from peripheral blood	blood
28	chr5:100235800-100236400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:100235800-100236400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
30	chr5:100235800-100236400	Flanking Active TSS	Placenta	Placenta
31	chr5:100235800-100236400	Flanking Active TSS	HSMM	muscle
32	chr5:100235800-100236400	Flanking Active TSS	NH-A	brain
33	chr5:100235800-100236600	Active TSS	Muscle Satellite Cultured Cells	--
34	chr5:100235800-100236800	Active TSS	Brain Hippocampus Middle	brain
35	chr5:100235800-100237000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
36	chr5:100235800-100237000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
37	chr5:100235800-100237000	Active TSS	Psoas Muscle	Psoas
38	chr5:100235800-100237200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr5:100235800-100237200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
40	chr5:100235800-100237200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
41	chr5:100235800-100237200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:100235800-100237400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
43	chr5:100235800-100237400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr5:100235800-100237400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
45	chr5:100235800-100237400	Active TSS	Fetal Kidney	kidney
46	chr5:100235800-100238200	Active TSS	Brain Cingulate Gyrus	brain
47	chr5:100235800-100239600	Active TSS	HSMMtube	muscle
48	chr5:100235800-100239800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr5:100235800-100240400	Active TSS	Brain Anterior Caudate	brain
50	chr5:100235800-100240400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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