Variant report

Variant	rs72807319
Chromosome Location	chr5:179191149-179191150
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:179191000-179191150	BE2_C	brain:	n/a	n/a
2	POLR2A	chr5:179190546-179191395	K562	blood:	n/a	n/a
3	CTCF	chr5:179191080-179191230	BJ	skin:	n/a	n/a
4	FOXA2	chr5:179190810-179191209	A549	lung:	n/a	n/a
5	CTCF	chr5:179191120-179191270	HBMEC	blood vessel:	n/a	n/a
6	MXI1	chr5:179191002-179191171	Hela-S3	cervix:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179146141..179147702-chr5:179190620..179192713,2	MCF-7	breast:
2	chr5:179189824..179191528-chr5:179247114..179249290,2	MCF-7	breast:
3	chr5:179186448..179188654-chr5:179189940..179191704,3	MCF-7	breast:
4	chr5:179158835..179161436-chr5:179188218..179192276,6	MCF-7	breast:
5	chr5:179185016..179191633-chr5:179218101..179224928,12	MCF-7	breast:
6	chr5:179190740..179195492-chr5:179198923..179204539,8	MCF-7	breast:
7	chr5:179190822..179197512-chr5:179244986..179249382,7	K562	blood:
8	chr5:179189945..179192800-chr5:179216394..179217969,2	K562	blood:
9	chr5:179158546..179161718-chr5:179184592..179191275,7	MCF-7	breast:
10	chr5:179189040..179191704-chr5:179221605..179224546,3	MCF-7	breast:
11	chr5:179190290..179192462-chr5:179193480..179197848,5	MCF-7	breast:
12	chr5:179189180..179191928-chr5:179192012..179195048,3	K562	blood:
13	chr5:179188774..179192649-chr5:179245020..179250577,7	K562	blood:

No data

Variant related genes	Relation type
MAML1	TF binding region
ENSG00000161021	Chromatin interaction
ENSG00000213316	Chromatin interaction
ENSG00000161011	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs2291417	0.83[AMR][1000 genomes]
rs2291418	0.83[AMR][1000 genomes]
rs55800082	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55815501	1.00[EUR][1000 genomes]
rs55915939	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55952102	0.94[EUR][1000 genomes]
rs55967209	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56093222	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58826518	0.83[AMR][1000 genomes]
rs60485189	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60716268	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66465242	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66685266	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66686562	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66995745	0.83[AMR][1000 genomes]
rs67211456	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67637906	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67832593	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67879510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67952129	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6865507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72807328	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72807332	1.00[EUR][1000 genomes]
rs72807337	1.00[EUR][1000 genomes]
rs72809763	0.94[EUR][1000 genomes]
rs72809769	0.94[EUR][1000 genomes]
rs72809771	0.94[EUR][1000 genomes]
rs72809773	0.94[EUR][1000 genomes]
rs72809775	1.00[EUR][1000 genomes]
rs72809781	1.00[EUR][1000 genomes]
rs72809782	1.00[EUR][1000 genomes]
rs72809783	1.00[EUR][1000 genomes]
rs72809785	1.00[EUR][1000 genomes]
rs72809787	1.00[EUR][1000 genomes]
rs72809790	1.00[EUR][1000 genomes]
rs72809792	1.00[EUR][1000 genomes]
rs72809794	1.00[EUR][1000 genomes]
rs72809795	1.00[EUR][1000 genomes]
rs72809796	1.00[EUR][1000 genomes]
rs72809798	1.00[EUR][1000 genomes]
rs72809802	1.00[EUR][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	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
4	nsv469579	chr5:179184831-179360191	Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
5	nsv883274	chr5:179186397-179310330	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179174400-179192200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:179182600-179192400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:179183200-179192600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr5:179186000-179191200	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr5:179186000-179192600	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr5:179186400-179191200	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr5:179186600-179192400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:179186800-179191400	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr5:179187600-179192200	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr5:179188000-179191400	Enhancers	Duodenum Mucosa	Duodenum
11	chr5:179188000-179192600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:179188400-179191200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:179188400-179191200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:179188400-179191400	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr5:179188400-179192400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr5:179188600-179191200	Enhancers	Primary B cells from peripheral blood	blood
17	chr5:179188600-179191200	Enhancers	Brain Hippocampus Middle	brain
18	chr5:179188600-179191200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr5:179188600-179191400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:179188600-179191600	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr5:179188600-179192400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:179188600-179192400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr5:179188600-179192600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:179188600-179192600	Enhancers	Liver	Liver
25	chr5:179188600-179193000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:179188600-179193000	Enhancers	HMEC	breast
27	chr5:179188600-179193600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:179188800-179191200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr5:179188800-179191200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:179188800-179191200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr5:179188800-179191200	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr5:179188800-179191200	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr5:179188800-179191200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr5:179188800-179191200	Enhancers	Brain Cingulate Gyrus	brain
35	chr5:179188800-179191200	Enhancers	Brain Germinal Matrix	brain
36	chr5:179188800-179191200	Enhancers	Fetal Intestine Small	intestine
37	chr5:179188800-179191200	Enhancers	Fetal Lung	lung
38	chr5:179188800-179191200	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr5:179188800-179191200	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr5:179188800-179191200	Enhancers	A549	lung
41	chr5:179188800-179191400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:179188800-179191400	Enhancers	Fetal Heart	heart
43	chr5:179188800-179192000	Enhancers	Fetal Stomach	stomach
44	chr5:179188800-179192000	Enhancers	NH-A	brain
45	chr5:179188800-179192200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr5:179188800-179192200	Enhancers	Adipose Nuclei	Adipose
47	chr5:179188800-179192200	Enhancers	HUVEC	blood vessel
48	chr5:179188800-179192200	Enhancers	NHLF	lung
49	chr5:179188800-179192400	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr5:179188800-179192600	Enhancers	Brain Angular Gyrus	brain

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