Variant report

Variant	rs72811024
Chromosome Location	chr5:179716751-179716752
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr5:179716514-179717340	HEK293-T-REx	kidney:	n/a	chr5:179716714-179716723 chr5:179716700-179716721
2	EP300	chr5:179716519-179716784	SK-N-SH_RA	brain:	n/a	n/a
3	NR2F2	chr5:179716461-179716975	MCF-7	breast:	n/a	n/a
4	FOXA1	chr5:179716446-179716851	T-47D	breast:	n/a	chr5:179716655-179716670
5	STAT3	chr5:179716597-179716822	MCF10A-Er-Src	breast:	n/a	n/a
6	SIN3AK20	chr5:179716225-179717078	MCF-7	breast:	n/a	n/a
7	TBP	chr5:179716563-179716782	H1-hESC	embryonic stem cell:	n/a	n/a
8	GATA2	chr5:179716356-179716832	SH-SY5Y	brain:	n/a	n/a
9	ZNF217	chr5:179716523-179716803	MCF-7	breast:	n/a	n/a
10	GATA3	chr5:179716355-179716813	T-47D	breast:	n/a	n/a
11	FOS	chr5:179716529-179716842	MCF10A-Er-Src	breast:	n/a	n/a
12	SIN3AK20	chr5:179716286-179716963	MCF-7	breast:	n/a	n/a
13	STAT3	chr5:179716408-179716778	MCF10A-Er-Src	breast:	n/a	n/a
14	TCF12	chr5:179716406-179717047	MCF-7	breast:	n/a	n/a
15	GATA3	chr5:179716123-179716987	MCF-7	breast:	n/a	n/a
16	MYC	chr5:179716544-179716841	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr5:179716499-179716886	MCF10A-Er-Src	breast:	n/a	n/a
18	E2F4	chr5:179716228-179716770	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr5:179716570-179716770	MCF10A-Er-Src	breast:	n/a	n/a
20	GATA3	chr5:179716389-179716828	T-47D	breast:	n/a	n/a
21	FOXA1	chr5:179716524-179716799	T-47D	breast:	n/a	chr5:179716655-179716670
22	FOS	chr5:179716635-179716864	MCF10A-Er-Src	breast:	n/a	n/a
23	STAT3	chr5:179716619-179716753	MCF10A-Er-Src	breast:	n/a	n/a
24	MYC	chr5:179716519-179716835	MCF10A-Er-Src	breast:	n/a	n/a
25	EP300	chr5:179715971-179717091	SK-N-SH	brain:	n/a	chr5:179716112-179716126 chr5:179716416-179716430
26	TCF12	chr5:179716344-179717188	MCF-7	breast:	n/a	n/a
27	FOS	chr5:179716528-179716838	MCF10A-Er-Src	breast:	n/a	n/a
28	GATA3	chr5:179716228-179716909	MCF-7	breast:	n/a	n/a
29	STAT3	chr5:179716484-179716797	MCF10A-Er-Src	breast:	n/a	n/a
30	HDAC2	chr5:179716461-179716915	MCF-7	breast:	n/a	chr5:179716699-179716718
31	GATA3	chr5:179716380-179716807	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:179715940..179718137-chr5:179891672..179893899,2	MCF-7	breast:
2	chr5:179716385..179718922-chr5:179921407..179923351,3	MCF-7	breast:
3	chr5:179714950..179716889-chr5:179783751..179785977,2	K562	blood:
4	chr5:179716694..179718257-chr5:179740990..179742816,2	MCF-7	breast:
5	chr20:46275666..46278048-chr5:179716451..179718791,2	MCF-7	breast:
6	chr5:179716091..179718097-chr5:179718228..179720650,3	MCF-7	breast:
7	chr5:179695378..179696983-chr5:179716689..179718636,2	K562	blood:
8	chr5:179707659..179712077-chr5:179712622..179717997,8	MCF-7	breast:
9	chr5:179715141..179717166-chr5:179896710..179898786,2	MCF-7	breast:
10	chr5:179715674..179717304-chr5:179721521..179723626,2	K562	blood:
11	chr5:179616220..179617824-chr5:179714865..179717440,2	MCF-7	breast:
12	chr5:179635600..179638547-chr5:179713821..179718130,5	MCF-7	breast:
13	chr5:179716122..179718666-chr5:179757910..179760029,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000248367	TF binding region
ENSG00000131459	Chromatin interaction
ENSG00000146090	Chromatin interaction
ENSG00000248367	Chromatin interaction
ENSG00000113300	Chromatin interaction
ENSG00000050748	Chromatin interaction

Extended variants
information (count: 22 )
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	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34876832	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35977675	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3812066	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4700729	0.87[ASN][1000 genomes]
rs6896347	0.87[ASN][1000 genomes]
rs72811017	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811018	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811021	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811022	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs888923	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
7	nsv1030697	chr5:179710469-180686563	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
8	nsv883290	chr5:179712060-179818868	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 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	chr5:179692800-179718000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:179694800-179717600	Weak transcription	HUVEC	blood vessel
3	chr5:179703000-179717400	Weak transcription	NHLF	lung
4	chr5:179704600-179716800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr5:179704600-179717200	Weak transcription	Small Intestine	intestine
6	chr5:179704600-179718000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:179705200-179717200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr5:179705600-179717600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:179706600-179717200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr5:179706600-179717200	Weak transcription	Colon Smooth Muscle	Colon
11	chr5:179706800-179718400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr5:179707200-179717200	Weak transcription	NHDF-Ad	bronchial
13	chr5:179707400-179717200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr5:179707600-179717600	Weak transcription	Fetal Kidney	kidney
15	chr5:179708000-179717200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr5:179708200-179717200	Weak transcription	HSMM	muscle
17	chr5:179708400-179717400	Weak transcription	Osteobl	bone
18	chr5:179708400-179717800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:179710000-179716800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr5:179710000-179717400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:179710000-179717800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr5:179710200-179717000	Weak transcription	Ovary	ovary
23	chr5:179710400-179717200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr5:179710400-179717200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr5:179710400-179717800	Weak transcription	Right Ventricle	heart
26	chr5:179710600-179717200	Weak transcription	Adipose Nuclei	Adipose
27	chr5:179710600-179717200	Weak transcription	Brain Germinal Matrix	brain
28	chr5:179710600-179717200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:179710600-179717400	Weak transcription	Fetal Intestine Large	intestine
30	chr5:179710800-179717200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:179710800-179717200	Weak transcription	Placenta	Placenta
32	chr5:179711400-179717200	Weak transcription	Fetal Thymus	thymus
33	chr5:179711400-179717200	Weak transcription	Right Atrium	heart
34	chr5:179711600-179717000	Weak transcription	Spleen	Spleen
35	chr5:179711600-179717200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:179711600-179717600	Weak transcription	Aorta	Aorta
37	chr5:179711600-179718000	Weak transcription	Lung	lung
38	chr5:179712200-179716800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr5:179712200-179717200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr5:179712400-179717400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:179712400-179717600	Weak transcription	NH-A	brain
42	chr5:179712400-179717800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:179712600-179717000	Weak transcription	Fetal Brain Female	brain
44	chr5:179712600-179717000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr5:179712600-179717200	Weak transcription	Brain Angular Gyrus	brain
46	chr5:179712600-179717200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr5:179712600-179717200	Weak transcription	Brain Hippocampus Middle	brain
48	chr5:179712600-179717200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr5:179712600-179717600	Weak transcription	Brain Substantia Nigra	brain
50	chr5:179712800-179717200	Weak transcription	Fetal Muscle Leg	muscle

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