Variant report

Variant	rs72659059
Chromosome Location	chr8:62624718-62624719
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	CEBPB	chr8:62624598-62625484	A549	lung:	n/a	n/a
2	TBL1XR1	chr8:62624496-62625621	K562	blood:	n/a	n/a
3	POLR2A	chr8:62624555-62625611	K562	blood:	n/a	n/a
4	FOXA1	chr8:62624585-62625078	HepG2	liver:	n/a	n/a
5	POLR2A	chr8:62624043-62628324	U87	brain:	n/a	n/a
6	TEAD4	chr8:62624560-62625084	K562	blood:	n/a	n/a
7	POLR2A	chr8:62620749-62628224	U87	brain:	n/a	n/a
8	POLR2A	chr8:62624524-62625037	K562	blood:	n/a	n/a
9	BCL3	chr8:62622937-62626728	A549	lung:	n/a	chr8:62622975-62622984 chr8:62623067-62623076 chr8:62626676-62626685
10	POLR2A	chr8:62624567-62625627	HepG2	liver:	n/a	n/a
11	POLR2A	chr8:62621167-62627994	A549	lung:	n/a	n/a
12	SIN3AK20	chr8:62624451-62625602	HCT-116	colon:	n/a	n/a
13	JUND	chr8:62624470-62625194	K562	blood:	n/a	chr8:62625013-62625022
14	TEAD4	chr8:62624413-62625108	K562	blood:	n/a	n/a
15	TCF7L2	chr8:62624430-62625137	HEK293	kidney:	n/a	n/a
16	ATF1	chr8:62624629-62625517	K562	blood:	n/a	n/a
17	MAFK	chr8:62624238-62626280	Hela-S3	cervix:	n/a	n/a
18	SMC3	chr8:62624603-62628007	Hela-S3	cervix:	n/a	n/a
19	SP1	chr8:62624396-62625737	A549	lung:	n/a	chr8:62625318-62625339
20	TCF12	chr8:62622969-62628409	A549	lung:	n/a	n/a
21	PML	chr8:62624579-62625043	K562	blood:	n/a	n/a
22	POLR2A	chr8:62624655-62628169	Hela-S3	cervix:	n/a	n/a
23	RCOR1	chr8:62624625-62624853	GM12878	blood:	n/a	n/a
24	UBTF	chr8:62624506-62624826	K562	blood:	n/a	n/a
25	STAT5A	chr8:62624610-62624953	K562	blood:	n/a	n/a
26	EP300	chr8:62624553-62626265	Hela-S3	cervix:	n/a	chr8:62625613-62625627 chr8:62625013-62625021
27	MAX	chr8:62624508-62625337	A549	lung:	n/a	n/a
28	POLR2A	chr8:62624324-62628038	MCF10A-Er-Src	breast:	n/a	n/a
29	FOSL2	chr8:62624509-62626584	A549	lung:	n/a	chr8:62626361-62626370 chr8:62625945-62625954 chr8:62625013-62625022
30	SIX5	chr8:62622210-62626661	A549	lung:	n/a	chr8:62624442-62624451
31	TBP	chr8:62624597-62626541	Hela-S3	cervix:	n/a	n/a
32	ZNF384	chr8:62624664-62625168	K562	blood:	n/a	n/a
33	REST	chr8:62624489-62626250	A549	lung:	n/a	n/a
34	TCF7L2	chr8:62624568-62624997	PANC-1	pancreas:	n/a	n/a
35	CREB1	chr8:62624523-62625207	K562	blood:	n/a	n/a
36	STAT5A	chr8:62624557-62625071	K562	blood:	n/a	n/a
37	POLR2A	chr8:62624483-62625655	K562	blood:	n/a	n/a
38	SP1	chr8:62624276-62628263	A549	lung:	n/a	chr8:62627211-62627221 chr8:62626675-62626687 chr8:62625318-62625339 chr8:62627190-62627200 chr8:62626804-62626813 chr8:62627210-62627221 chr8:62627189-62627201 chr8:62627293-62627302 chr8:62627211-62627221 chr8:62627189-62627201 chr8:62628176-62628190 chr8:62627292-62627301 chr8:62626803-62626815 chr8:62626352-62626366 chr8:62626805-62626814 chr8:62627210-62627222 chr8:62627212-62627221 chr8:62627211-62627220 chr8:62627292-62627301 chr8:62626804-62626813 chr8:62627210-62627222 chr8:62627291-62627303 chr8:62627190-62627200 chr8:62627211-62627220 chr8:62626359-62626373
39	FOXA1	chr8:62624566-62624960	HepG2	liver:	n/a	n/a
40	MAX	chr8:62624407-62628343	A549	lung:	n/a	chr8:62627889-62627896 chr8:62627481-62627497 chr8:62626030-62626046 chr8:62627481-62627490 chr8:62627887-62627898 chr8:62627478-62627488 chr8:62627478-62627489 chr8:62627888-62627897 chr8:62627886-62627899 chr8:62627887-62627898 chr8:62627888-62627897 chr8:62627887-62627898 chr8:62627889-62627898 chr8:62627887-62627897
41	POLR2A	chr8:62624376-62628379	Hela-S3	cervix:	n/a	n/a
42	EP300	chr8:62622946-62628108	A549	lung:	n/a	chr8:62626370-62626379 chr8:62627005-62627021 chr8:62627011-62627027 chr8:62624213-62624227 chr8:62624029-62624043 chr8:62625613-62625627 chr8:62623823-62623833 chr8:62623751-62623761 chr8:62625013-62625021 chr8:62623269-62623283 chr8:62627288-62627304 chr8:62627012-62627028 chr8:62627697-62627706 chr8:62624040-62624054 chr8:62627488-62627504
43	ARID3A	chr8:62624117-62626070	K562	blood:	n/a	n/a
44	HEY1	chr8:62624652-62624992	HepG2	liver:	n/a	n/a
45	BHLHE40	chr8:62624663-62625675	GM12878	blood:	n/a	n/a
46	BHLHE40	chr8:62624546-62625625	K562	blood:	n/a	n/a
47	ATF3	chr8:62624416-62626593	A549	lung:	n/a	chr8:62625014-62625022 chr8:62625012-62625023 chr8:62625012-62625023
48	POLR2A	chr8:62620561-62626562	K562	blood:	n/a	n/a
49	IRF1	chr8:62624247-62625211	K562	blood:	n/a	chr8:62625042-62625055 chr8:62625042-62625055 chr8:62625039-62625056
50	CCNT2	chr8:62624509-62624954	K562	blood:	n/a	chr8:62624840-62624860

No.	Distal block	Cell Line	Cell type
1	chr8:62620828..62625218-chr8:62625341..62628340,6	MCF-7	breast:
2	chr8:62560140..62569925-chr8:62619825..62628019,19	K562	blood:
3	chr8:62612675..62615533-chr8:62623174..62625946,2	MCF-7	breast:
4	chr8:62618042..62628934-chr8:62666240..62683608,38	K562	blood:
5	chr8:62623830..62626750-chr8:62657804..62660228,2	K562	blood:
6	chr8:62538409..62541040-chr8:62622650..62625118,2	K562	blood:
7	chr8:62608231..62611173-chr8:62624445..62626992,3	K562	blood:
8	chr8:62550051..62552995-chr8:62624567..62627548,2	MCF-7	breast:
9	chr8:62619459..62621551-chr8:62623294..62626246,2	MCF-7	breast:
10	chr8:62624564..62626799-chr8:62720557..62722596,2	K562	blood:
11	chr8:62597423..62607954-chr8:62618870..62628159,21	K562	blood:
12	chr8:62567262..62573065-chr8:62621554..62624953,7	K562	blood:

Variant related genes	Relation type
MIR4470	TF binding region
ENSG00000198363	Chromatin interaction
ENSG00000251127	Chromatin interaction
ENSG00000264408	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10094729	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10098830	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10103451	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10110165	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10112762	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11784377	0.82[EUR][1000 genomes]
rs11787089	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16927809	0.80[EUR][1000 genomes]
rs4737591	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4737592	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61430496	0.85[AMR][1000 genomes]
rs7013535	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7015761	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7018102	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72659056	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72659057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62613000-62626400	Weak transcription	Lung	lung
2	chr8:62619200-62625000	Enhancers	Fetal Heart	heart
3	chr8:62622200-62626200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:62622200-62626200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr8:62622200-62626200	Weak transcription	Pancreas	Pancrea
6	chr8:62622200-62626400	Weak transcription	Gastric	stomach
7	chr8:62622400-62626000	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr8:62622400-62627800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:62622600-62625800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:62622800-62624800	Enhancers	Placenta Amnion	Placenta Amnion
11	chr8:62622800-62627600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:62623000-62625000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:62623000-62626000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr8:62623000-62627800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:62623200-62625400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr8:62623200-62626200	Weak transcription	Small Intestine	intestine
17	chr8:62623200-62627400	Active TSS	NHLF	lung
18	chr8:62623200-62627600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:62623200-62627600	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr8:62623400-62624800	Enhancers	Fetal Brain Male	brain
21	chr8:62623400-62624800	Weak transcription	Stomach Mucosa	stomach
22	chr8:62623400-62626000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr8:62623600-62624800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr8:62623600-62624800	Enhancers	Colon Smooth Muscle	Colon
25	chr8:62623600-62625400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr8:62623600-62625800	Active TSS	HepG2	liver
27	chr8:62623600-62627600	Active TSS	Hela-S3	cervix
28	chr8:62623600-62627600	Active TSS	NHDF-Ad	bronchial
29	chr8:62623600-62627800	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr8:62623800-62624800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr8:62623800-62627400	Active TSS	K562	blood
32	chr8:62624000-62627200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:62624000-62627400	Active TSS	HMEC	breast
34	chr8:62624000-62627600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:62624000-62627800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr8:62624200-62624800	Flanking Active TSS	GM12878-XiMat	blood
37	chr8:62624200-62625000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:62624200-62625000	Enhancers	Primary T cells from cord blood	blood
39	chr8:62624200-62625000	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr8:62624200-62625400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr8:62624200-62625600	Flanking Active TSS	NHEK	skin
42	chr8:62624200-62625800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:62624200-62626000	Flanking Active TSS	HUVEC	blood vessel
44	chr8:62624200-62626200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr8:62624200-62626200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:62624200-62626200	Transcr. at gene 5' and 3'	A549	lung
47	chr8:62624200-62626400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr8:62624200-62626600	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr8:62624200-62627600	Active TSS	HSMMtube	muscle
50	chr8:62624400-62624800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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