Variant report

Variant	rs72659057
Chromosome Location	chr8:62624590-62624591
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	TBL1XR1	chr8:62624496-62625621	K562	blood:	n/a	n/a
2	POLR2A	chr8:62624555-62625611	K562	blood:	n/a	n/a
3	FOXA1	chr8:62624585-62625078	HepG2	liver:	n/a	n/a
4	POLR2A	chr8:62624043-62628324	U87	brain:	n/a	n/a
5	TEAD4	chr8:62624560-62625084	K562	blood:	n/a	n/a
6	POLR2A	chr8:62620749-62628224	U87	brain:	n/a	n/a
7	POLR2A	chr8:62624524-62625037	K562	blood:	n/a	n/a
8	BCL3	chr8:62622937-62626728	A549	lung:	n/a	chr8:62622975-62622984 chr8:62623067-62623076 chr8:62626676-62626685
9	POLR2A	chr8:62624567-62625627	HepG2	liver:	n/a	n/a
10	POLR2A	chr8:62621167-62627994	A549	lung:	n/a	n/a
11	SIN3AK20	chr8:62624451-62625602	HCT-116	colon:	n/a	n/a
12	JUND	chr8:62624470-62625194	K562	blood:	n/a	chr8:62625013-62625022
13	TEAD4	chr8:62624413-62625108	K562	blood:	n/a	n/a
14	TCF7L2	chr8:62624430-62625137	HEK293	kidney:	n/a	n/a
15	MAFK	chr8:62624238-62626280	Hela-S3	cervix:	n/a	n/a
16	SP1	chr8:62624396-62625737	A549	lung:	n/a	chr8:62625318-62625339
17	TCF12	chr8:62622969-62628409	A549	lung:	n/a	n/a
18	PML	chr8:62624579-62625043	K562	blood:	n/a	n/a
19	UBTF	chr8:62624506-62624826	K562	blood:	n/a	n/a
20	EP300	chr8:62624553-62626265	Hela-S3	cervix:	n/a	chr8:62625613-62625627 chr8:62625013-62625021
21	MAX	chr8:62624508-62625337	A549	lung:	n/a	n/a
22	POLR2A	chr8:62624324-62628038	MCF10A-Er-Src	breast:	n/a	n/a
23	SMC3	chr8:62624567-62624594	GM12878	blood:	n/a	n/a
24	FOSL2	chr8:62624509-62626584	A549	lung:	n/a	chr8:62626361-62626370 chr8:62625945-62625954 chr8:62625013-62625022
25	SIX5	chr8:62622210-62626661	A549	lung:	n/a	chr8:62624442-62624451
26	REST	chr8:62624489-62626250	A549	lung:	n/a	n/a
27	TCF7L2	chr8:62624568-62624997	PANC-1	pancreas:	n/a	n/a
28	CREB1	chr8:62624523-62625207	K562	blood:	n/a	n/a
29	STAT5A	chr8:62624557-62625071	K562	blood:	n/a	n/a
30	POLR2A	chr8:62624483-62625655	K562	blood:	n/a	n/a
31	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
32	FOXA1	chr8:62624566-62624960	HepG2	liver:	n/a	n/a
33	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
34	POLR2A	chr8:62624376-62628379	Hela-S3	cervix:	n/a	n/a
35	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
36	ARID3A	chr8:62624117-62626070	K562	blood:	n/a	n/a
37	BHLHE40	chr8:62624546-62625625	K562	blood:	n/a	n/a
38	ATF3	chr8:62624416-62626593	A549	lung:	n/a	chr8:62625014-62625022 chr8:62625012-62625023 chr8:62625012-62625023
39	POLR2A	chr8:62620561-62626562	K562	blood:	n/a	n/a
40	IRF1	chr8:62624247-62625211	K562	blood:	n/a	chr8:62625042-62625055 chr8:62625042-62625055 chr8:62625039-62625056
41	CCNT2	chr8:62624509-62624954	K562	blood:	n/a	chr8:62624840-62624860
42	POLR2A	chr8:62620532-62628356	U87	brain:	n/a	n/a
43	CHD1	chr8:62622453-62628339	IMR90	lung:	n/a	chr8:62627291-62627301 chr8:62627210-62627220 chr8:62626642-62626652 chr8:62627205-62627215 chr8:62628180-62628190
44	SIN3AK20	chr8:62624478-62626278	A549	lung:	n/a	n/a
45	POLR2A	chr8:62622492-62628360	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr8:62624465-62628176	HCT-116	colon:	n/a	n/a
47	POLR2A	chr8:62622301-62628049	MCF10A-Er-Src	breast:	n/a	n/a
48	SIN3AK20	chr8:62624521-62626624	A549	lung:	n/a	n/a
49	POLR2A	chr8:62624499-62625619	Hela-S3	cervix:	n/a	n/a
50	FOXA1	chr8:62624560-62625019	HepG2	liver:	n/a	n/a

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
ENSG00000264408	Chromatin interaction
ENSG00000198363	Chromatin interaction
ENSG00000251127	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]
rs72659059	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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62613000-62624600	Weak transcription	Brain Germinal Matrix	brain
2	chr8:62613000-62626400	Weak transcription	Lung	lung
3	chr8:62613800-62624600	Weak transcription	Left Ventricle	heart
4	chr8:62613800-62624600	Weak transcription	Right Ventricle	heart
5	chr8:62613800-62624600	Weak transcription	Thymus	Thymus
6	chr8:62618400-62624600	Enhancers	Rectal Smooth Muscle	rectum
7	chr8:62619200-62624600	Weak transcription	Fetal Thymus	thymus
8	chr8:62619200-62625000	Enhancers	Fetal Heart	heart
9	chr8:62620000-62624600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:62620200-62624600	Enhancers	Primary hematopoietic stem cells	blood
11	chr8:62621800-62624600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:62622000-62624600	Enhancers	Fetal Intestine Small	intestine
13	chr8:62622200-62624600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:62622200-62624600	Weak transcription	Aorta	Aorta
15	chr8:62622200-62624600	Weak transcription	Ovary	ovary
16	chr8:62622200-62624600	Weak transcription	Psoas Muscle	Psoas
17	chr8:62622200-62626200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:62622200-62626200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr8:62622200-62626200	Weak transcription	Pancreas	Pancrea
20	chr8:62622200-62626400	Weak transcription	Gastric	stomach
21	chr8:62622400-62626000	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr8:62622400-62627800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:62622600-62625800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:62622800-62624600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr8:62622800-62624800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr8:62622800-62627600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:62623000-62624600	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr8:62623000-62624600	Enhancers	Fetal Kidney	kidney
29	chr8:62623000-62624600	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr8:62623000-62625000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:62623000-62626000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr8:62623000-62627800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:62623200-62624600	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr8:62623200-62624600	Enhancers	Primary B cells from peripheral blood	blood
35	chr8:62623200-62625400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr8:62623200-62626200	Weak transcription	Small Intestine	intestine
37	chr8:62623200-62627400	Active TSS	NHLF	lung
38	chr8:62623200-62627600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:62623200-62627600	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr8:62623400-62624600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr8:62623400-62624600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr8:62623400-62624600	Weak transcription	Brain Substantia Nigra	brain
43	chr8:62623400-62624600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr8:62623400-62624800	Enhancers	Fetal Brain Male	brain
45	chr8:62623400-62624800	Weak transcription	Stomach Mucosa	stomach
46	chr8:62623400-62626000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr8:62623600-62624600	Weak transcription	Brain Angular Gyrus	brain
48	chr8:62623600-62624600	Weak transcription	Right Atrium	heart
49	chr8:62623600-62624600	Weak transcription	Stomach Smooth Muscle	stomach
50	chr8:62623600-62624800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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