Variant report

Variant	rs73520711
Chromosome Location	chr8:8932939-8932940
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	CEBPD	chr8:8932250-8933039	K562	blood:	n/a	chr8:8932589-8932600 chr8:8932588-8932599
2	TEAD4	chr8:8932199-8933058	SK-N-SH	brain:	n/a	n/a
3	MAX	chr8:8932109-8933224	A549	lung:	n/a	chr8:8932487-8932497 chr8:8932488-8932497 chr8:8932602-8932613 chr8:8932622-8932631 chr8:8932489-8932496 chr8:8932486-8932497 chr8:8932487-8932497 chr8:8932487-8932496 chr8:8932482-8932501 chr8:8932485-8932498
4	CEBPB	chr8:8932188-8933096	HCT-116	colon:	n/a	chr8:8933004-8933017 chr8:8932746-8932759 chr8:8932856-8932869 chr8:8932857-8932868
5	EP300	chr8:8932285-8933036	SK-N-SH	brain:	n/a	chr8:8932294-8932303 chr8:8932622-8932631
6	CEBPB	chr8:8932318-8933054	A549	lung:	n/a	chr8:8933004-8933017 chr8:8932746-8932759 chr8:8932856-8932869 chr8:8932857-8932868
7	POLR2A	chr8:8932297-8932946	K562	blood:	n/a	n/a
8	TBL1XR1	chr8:8932198-8933026	K562	blood:	n/a	n/a
9	RCOR1	chr8:8932278-8932950	K562	blood:	n/a	n/a
10	SP1	chr8:8932134-8933017	HCT-116	colon:	n/a	n/a
11	GATA3	chr8:8932259-8933067	A549	lung:	n/a	chr8:8932713-8932729 chr8:8932718-8932735 chr8:8932717-8932726
12	IRF1	chr8:8932199-8933157	K562	blood:	n/a	chr8:8932742-8932756 chr8:8932780-8932791 chr8:8932741-8932753 chr8:8932778-8932791 chr8:8932742-8932752 chr8:8932741-8932753
13	FOS	chr8:8932348-8932954	MCF10A-Er-Src	breast:	n/a	chr8:8932621-8932632 chr8:8932623-8932632 chr8:8932358-8932366 chr8:8932464-8932474 chr8:8932648-8932660
14	REST	chr8:8932233-8933047	A549	lung:	n/a	n/a
15	EP300	chr8:8932241-8933080	A549	lung:	n/a	chr8:8932294-8932303 chr8:8932622-8932631
16	MAX	chr8:8932107-8933023	HCT-116	colon:	n/a	chr8:8932487-8932497 chr8:8932488-8932497 chr8:8932602-8932613 chr8:8932622-8932631 chr8:8932489-8932496 chr8:8932486-8932497 chr8:8932487-8932497 chr8:8932487-8932496 chr8:8932482-8932501 chr8:8932485-8932498
17	MAX	chr8:8932292-8933020	Hela-S3	cervix:	n/a	chr8:8932487-8932497 chr8:8932488-8932497 chr8:8932602-8932613 chr8:8932622-8932631 chr8:8932489-8932496 chr8:8932486-8932497 chr8:8932487-8932497 chr8:8932487-8932496 chr8:8932482-8932501 chr8:8932485-8932498
18	GATA3	chr8:8932142-8933155	SK-N-SH	brain:	n/a	chr8:8932713-8932729 chr8:8932718-8932735 chr8:8932717-8932726
19	JUND	chr8:8932486-8932950	MCF-7	breast:	n/a	chr8:8932623-8932632 chr8:8932648-8932660 chr8:8932621-8932632
20	ARID3A	chr8:8932270-8933133	K562	blood:	n/a	n/a
21	FOSL1	chr8:8932205-8933057	HCT-116	colon:	n/a	chr8:8932623-8932632 chr8:8932358-8932366 chr8:8932464-8932474 chr8:8932648-8932660
22	MAX	chr8:8932277-8933168	HUVEC	blood vessel:	n/a	chr8:8932487-8932497 chr8:8932488-8932497 chr8:8932602-8932613 chr8:8932622-8932631 chr8:8932489-8932496 chr8:8932486-8932497 chr8:8932487-8932497 chr8:8932487-8932496 chr8:8932482-8932501 chr8:8932485-8932498
23	CEBPB	chr8:8932310-8933040	K562	blood:	n/a	chr8:8933004-8933017 chr8:8932746-8932759 chr8:8932856-8932869 chr8:8932857-8932868
24	CEBPB	chr8:8932135-8933107	HCT-116	colon:	n/a	chr8:8933004-8933017 chr8:8932746-8932759 chr8:8932856-8932869 chr8:8932857-8932868
25	RCOR1	chr8:8932348-8933060	K562	blood:	n/a	n/a
26	PBX3	chr8:8932311-8933027	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr8:8931908-8933184	HUVEC	blood vessel:	n/a	n/a
28	GATA1	chr8:8931905-8933452	K562	blood:	n/a	chr8:8932713-8932729 chr8:8932718-8932735 chr8:8932717-8932726
29	BHLHE40	chr8:8932297-8933011	K562	blood:	n/a	n/a
30	MYC	chr8:8932130-8933185	MCF10A-Er-Src	breast:	n/a	chr8:8932487-8932497 chr8:8932488-8932497 chr8:8932602-8932613 chr8:8932622-8932631 chr8:8932489-8932496 chr8:8932486-8932497 chr8:8932487-8932497 chr8:8932487-8932496 chr8:8932482-8932501 chr8:8932485-8932498
31	TCF12	chr8:8932260-8933049	SK-N-SH	brain:	n/a	n/a
32	BRCA1	chr8:8932286-8933183	Hela-S3	cervix:	n/a	n/a
33	JUND	chr8:8932277-8932985	K562	blood:	n/a	chr8:8932623-8932632 chr8:8932358-8932366 chr8:8932464-8932474 chr8:8932648-8932660 chr8:8932621-8932632
34	E2F4	chr8:8932452-8932976	MCF10A-Er-Src	breast:	n/a	n/a
35	MAFK	chr8:8932316-8932991	K562	blood:	n/a	n/a
36	FOS	chr8:8932329-8933142	MCF10A-Er-Src	breast:	n/a	chr8:8932621-8932632 chr8:8932623-8932632 chr8:8932358-8932366 chr8:8932464-8932474 chr8:8932648-8932660
37	MAX	chr8:8932231-8933113	Hela-S3	cervix:	n/a	chr8:8932487-8932497 chr8:8932488-8932497 chr8:8932602-8932613 chr8:8932622-8932631 chr8:8932489-8932496 chr8:8932486-8932497 chr8:8932487-8932497 chr8:8932487-8932496 chr8:8932482-8932501 chr8:8932485-8932498
38	RFX5	chr8:8932297-8933213	Hela-S3	cervix:	n/a	n/a
39	JUND	chr8:8932215-8933041	SK-N-SH	brain:	n/a	chr8:8932623-8932632 chr8:8932358-8932366 chr8:8932464-8932474 chr8:8932648-8932660 chr8:8932621-8932632
40	EP300	chr8:8932145-8933085	ECC-1	luminal epithelium:	n/a	chr8:8932294-8932303 chr8:8932622-8932631
41	POLR2A	chr8:8932238-8933030	Hela-S3	cervix:	n/a	n/a
42	CCNT2	chr8:8932360-8933042	K562	blood:	n/a	chr8:8932715-8932735
43	ZNF384	chr8:8932358-8933201	K562	blood:	n/a	n/a
44	USF2	chr8:8932266-8933035	Hela-S3	cervix:	n/a	n/a
45	MYC	chr8:8932266-8933035	K562	blood:	n/a	chr8:8932487-8932497 chr8:8932488-8932497 chr8:8932602-8932613 chr8:8932622-8932631 chr8:8932489-8932496 chr8:8932486-8932497 chr8:8932487-8932497 chr8:8932487-8932496 chr8:8932482-8932501 chr8:8932485-8932498
46	TCF12	chr8:8932094-8933060	SK-N-SH	brain:	n/a	n/a
47	IRF1	chr8:8932276-8932987	K562	blood:	n/a	chr8:8932742-8932756 chr8:8932780-8932791 chr8:8932741-8932753 chr8:8932778-8932791 chr8:8932742-8932752 chr8:8932741-8932753
48	JUND	chr8:8932242-8933032	A549	lung:	n/a	chr8:8932623-8932632 chr8:8932358-8932366 chr8:8932464-8932474 chr8:8932648-8932660 chr8:8932621-8932632
49	SRF	chr8:8932176-8932987	ECC-1	luminal epithelium:	n/a	chr8:8932559-8932577 chr8:8932561-8932572 chr8:8932561-8932574 chr8:8932558-8932572 chr8:8932476-8932486 chr8:8932560-8932575 chr8:8932558-8932576 chr8:8932562-8932576
50	MYC	chr8:8932255-8933171	K562	blood:	n/a	chr8:8932487-8932497 chr8:8932488-8932497 chr8:8932602-8932613 chr8:8932622-8932631 chr8:8932489-8932496 chr8:8932486-8932497 chr8:8932487-8932497 chr8:8932487-8932496 chr8:8932482-8932501 chr8:8932485-8932498

No.	Distal block	Cell Line	Cell type
1	chr8:8932505..8934408-chr8:8934754..8936644,3	MCF-7	breast:
2	chr8:8931416..8936474-chr8:8938271..8941320,7	K562	blood:
3	chr8:8932762..8934557-chr8:8938134..8939929,2	MCF-7	breast:
4	chr8:8931608..8933862-chr8:9004172..9006310,2	MCF-7	breast:
5	chr8:8932442..8934749-chr8:8960194..8961935,2	K562	blood:
6	chr8:8932433..8935466-chr8:8936336..8937882,3	K562	blood:
7	chr8:8930610..8933089-chr8:8960499..8962552,2	MCF-7	breast:
8	chr8:8923309..8925417-chr8:8931144..8934790,3	K562	blood:

Variant related genes	Relation type
RNU7-55P	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10081465	1.00[ASN][1000 genomes]
rs11995840	1.00[ASN][1000 genomes]
rs17155189	1.00[AMR][1000 genomes]
rs59972961	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6601284	1.00[ASN][1000 genomes]
rs6601285	1.00[ASN][1000 genomes]
rs6992369	1.00[ASN][1000 genomes]
rs7001055	1.00[ASN][1000 genomes]
rs7005811	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7006077	1.00[ASN][1000 genomes]
rs7008486	1.00[ASN][1000 genomes]
rs7014665	1.00[EUR][1000 genomes]
rs7014863	1.00[ASN][1000 genomes]
rs73520712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73520739	1.00[EUR][1000 genomes]
rs73662241	1.00[EUR][1000 genomes]
rs7823386	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841165	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841337	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841581	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8916000-8935200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr8:8924000-8936200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr8:8924000-8937800	Weak transcription	Lung	lung
4	chr8:8924000-8939600	Weak transcription	Right Ventricle	heart
5	chr8:8928600-8933000	Weak transcription	Left Ventricle	heart
6	chr8:8928600-8933400	Weak transcription	Psoas Muscle	Psoas
7	chr8:8928600-8934200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:8929600-8940000	Weak transcription	Aorta	Aorta
9	chr8:8930200-8933200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr8:8930200-8940400	Enhancers	Fetal Intestine Large	intestine
11	chr8:8930800-8934200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:8930800-8935800	Enhancers	HUVEC	blood vessel
13	chr8:8930800-8936400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr8:8931600-8933200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:8931600-8933600	Enhancers	Primary hematopoietic stem cells	blood
16	chr8:8931600-8935200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:8931600-8938000	Enhancers	Placenta	Placenta
18	chr8:8931800-8940800	Enhancers	Fetal Intestine Small	intestine
19	chr8:8932000-8933000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:8932000-8933000	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr8:8932000-8933200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:8932000-8933200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr8:8932000-8933200	Enhancers	Placenta Amnion	Placenta Amnion
24	chr8:8932000-8933400	Enhancers	Stomach Mucosa	stomach
25	chr8:8932000-8933600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:8932000-8933600	Enhancers	Right Atrium	heart
27	chr8:8932000-8935400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:8932000-8937800	Enhancers	Fetal Heart	heart
29	chr8:8932200-8933000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr8:8932200-8933000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:8932200-8933000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:8932200-8933000	Flanking Active TSS	HMEC	breast
33	chr8:8932200-8933000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr8:8932200-8933200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:8932200-8933200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr8:8932200-8933200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr8:8932200-8933200	Flanking Active TSS	A549	lung
38	chr8:8932200-8933200	Flanking Active TSS	NHLF	lung
39	chr8:8932400-8933000	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr8:8932400-8933000	Flanking Active TSS	Fetal Lung	lung
41	chr8:8932400-8933000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr8:8932400-8933000	Flanking Active TSS	K562	blood
43	chr8:8932400-8933000	Flanking Active TSS	NHEK	skin
44	chr8:8932400-8933200	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr8:8932400-8933200	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr8:8932400-8933200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr8:8932400-8933200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr8:8932400-8933200	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr8:8932400-8933200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr8:8932400-8933200	Enhancers	Colon Smooth Muscle	Colon

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