Variant report

Variant	rs72811017
Chromosome Location	chr5:179710194-179710195
allele	A/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	FOS	chr5:179710045-179710423	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr5:179710057-179710388	MCF10A-Er-Src	breast:	n/a	n/a
3	MYC	chr5:179710073-179710314	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr5:179710047-179710374	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr5:179710082-179710429	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr5:179710060-179710452	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr5:179710048-179710423	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr5:179710069-179710408	MCF10A-Er-Src	breast:	n/a	n/a
9	MYC	chr5:179710092-179710374	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr5:179710189-179710247	MCF10A-Er-Src	breast:	n/a	n/a
11	STAT3	chr5:179710091-179710335	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:179699592..179702150-chr5:179709663..179711352,2	K562	blood:
2	chr5:179707652..179710961-chr5:179712990..179716242,3	K562	blood:
3	chr5:179701944..179704923-chr5:179710150..179711887,3	MCF-7	breast:
4	chr20:26189362..26189868-chr5:179709812..179710312,2	MCF-7	breast:
5	chr5:179707659..179712077-chr5:179712622..179717997,8	MCF-7	breast:

Variant related genes	Relation type
MAPK9	TF binding region
ENSG00000227195	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10214063	0.81[ASN][1000 genomes]
rs11249687	0.87[ASN][1000 genomes]
rs1363514	0.89[ASN][1000 genomes]
rs17628029	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34876832	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35977675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3812066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4700729	0.87[ASN][1000 genomes]
rs6896347	0.87[ASN][1000 genomes]
rs72811018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811024	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs888923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv1033706	chr5:179402769-179806356	Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	esv2758032	chr5:179534477-179729944	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv2759398	chr5:179534477-179729944	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS 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 target site	16 gene(s)	inside rSNPs	diseases
5	nsv1023914	chr5:179649883-180040672	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv537983	chr5:179649883-180040672	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 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	chr5:179653600-179714600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:179655400-179712600	ZNF genes & repeats	Liver	Liver
3	chr5:179670200-179712800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:179692800-179718000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:179694800-179717600	Weak transcription	HUVEC	blood vessel
6	chr5:179696400-179714800	Weak transcription	Fetal Brain Male	brain
7	chr5:179697600-179710800	Strong transcription	Placenta	Placenta
8	chr5:179698400-179710200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:179698400-179710400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
10	chr5:179699000-179714600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:179699600-179710600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
12	chr5:179699800-179711400	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr5:179699800-179712600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr5:179700000-179711600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
15	chr5:179700200-179710800	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr5:179700600-179712600	Strong transcription	Primary T cells from cord blood	blood
17	chr5:179700800-179711400	Strong transcription	Fetal Thymus	thymus
18	chr5:179701200-179710800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr5:179701400-179710600	Strong transcription	Fetal Intestine Large	intestine
20	chr5:179701600-179710600	Strong transcription	Primary B cells from peripheral blood	blood
21	chr5:179701800-179710600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:179702400-179714000	Strong transcription	Thymus	Thymus
23	chr5:179702600-179712200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr5:179702800-179710600	Strong transcription	Hela-S3	cervix
25	chr5:179703000-179711400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr5:179703000-179717400	Weak transcription	NHLF	lung
27	chr5:179703400-179714000	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr5:179703800-179710800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:179703800-179714600	Strong transcription	Dnd41	blood
30	chr5:179704000-179710200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr5:179704000-179710200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
32	chr5:179704000-179710600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
33	chr5:179704000-179711400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr5:179704000-179712600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
35	chr5:179704200-179710600	Strong transcription	Fetal Brain Female	brain
36	chr5:179704200-179714200	Strong transcription	Stomach Smooth Muscle	stomach
37	chr5:179704400-179711400	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr5:179704400-179712400	Strong transcription	Duodenum Mucosa	Duodenum
39	chr5:179704600-179710200	Strong transcription	Ovary	ovary
40	chr5:179704600-179711600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr5:179704600-179712800	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr5:179704600-179716600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr5:179704600-179716600	Weak transcription	Psoas Muscle	Psoas
44	chr5:179704600-179716800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr5:179704600-179717200	Weak transcription	Small Intestine	intestine
46	chr5:179704600-179718000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:179704800-179710600	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr5:179704800-179710800	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr5:179705200-179717200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr5:179705400-179710600	Strong transcription	HUES6 Cell Line	embryonic stem cell

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