Variant report

Variant	rs73662291
Chromosome Location	chr8:8933027-8933028
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	GATA3	chr8:8932259-8933067	A549	lung:	n/a	chr8:8932713-8932729 chr8:8932718-8932735 chr8:8932717-8932726
8	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
9	REST	chr8:8932233-8933047	A549	lung:	n/a	n/a
10	EP300	chr8:8932241-8933080	A549	lung:	n/a	chr8:8932294-8932303 chr8:8932622-8932631
11	GATA3	chr8:8932142-8933155	SK-N-SH	brain:	n/a	chr8:8932713-8932729 chr8:8932718-8932735 chr8:8932717-8932726
12	ARID3A	chr8:8932270-8933133	K562	blood:	n/a	n/a
13	FOSL1	chr8:8932205-8933057	HCT-116	colon:	n/a	chr8:8932623-8932632 chr8:8932358-8932366 chr8:8932464-8932474 chr8:8932648-8932660
14	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
15	CEBPB	chr8:8932310-8933040	K562	blood:	n/a	chr8:8933004-8933017 chr8:8932746-8932759 chr8:8932856-8932869 chr8:8932857-8932868
16	CEBPB	chr8:8932135-8933107	HCT-116	colon:	n/a	chr8:8933004-8933017 chr8:8932746-8932759 chr8:8932856-8932869 chr8:8932857-8932868
17	RCOR1	chr8:8932348-8933060	K562	blood:	n/a	n/a
18	PBX3	chr8:8932311-8933027	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr8:8931908-8933184	HUVEC	blood vessel:	n/a	n/a
20	GATA1	chr8:8931905-8933452	K562	blood:	n/a	chr8:8932713-8932729 chr8:8932718-8932735 chr8:8932717-8932726
21	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
22	TCF12	chr8:8932260-8933049	SK-N-SH	brain:	n/a	n/a
23	BRCA1	chr8:8932286-8933183	Hela-S3	cervix:	n/a	n/a
24	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
25	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
26	RFX5	chr8:8932297-8933213	Hela-S3	cervix:	n/a	n/a
27	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
28	EP300	chr8:8932145-8933085	ECC-1	luminal epithelium:	n/a	chr8:8932294-8932303 chr8:8932622-8932631
29	POLR2A	chr8:8932238-8933030	Hela-S3	cervix:	n/a	n/a
30	CCNT2	chr8:8932360-8933042	K562	blood:	n/a	chr8:8932715-8932735
31	ZNF384	chr8:8932358-8933201	K562	blood:	n/a	n/a
32	USF2	chr8:8932266-8933035	Hela-S3	cervix:	n/a	n/a
33	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
34	TCF12	chr8:8932094-8933060	SK-N-SH	brain:	n/a	n/a
35	JUND	chr8:8932242-8933032	A549	lung:	n/a	chr8:8932623-8932632 chr8:8932358-8932366 chr8:8932464-8932474 chr8:8932648-8932660 chr8:8932621-8932632
36	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
37	SP1	chr8:8932151-8933078	A549	lung:	n/a	n/a
38	JUND	chr8:8932235-8933269	SK-N-SH	brain:	n/a	chr8:8932623-8932632 chr8:8932358-8932366 chr8:8932464-8932474 chr8:8932648-8932660 chr8:8932621-8932632
39	JUN	chr8:8932254-8933159	HUVEC	blood vessel:	n/a	chr8:8932623-8932632 chr8:8932358-8932366 chr8:8932464-8932474 chr8:8932648-8932660
40	POLR2A	chr8:8932049-8933135	HUVEC	blood vessel:	n/a	n/a
41	MYC	chr8:8932276-8933148	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
42	POLR2A	chr8:8931465-8933806	HUVEC	blood vessel:	n/a	n/a
43	EP300	chr8:8932222-8933131	A549	lung:	n/a	chr8:8932294-8932303 chr8:8932622-8932631
44	POLR2A	chr8:8932097-8933072	K562	blood:	n/a	n/a
45	SRF	chr8:8932152-8933043	HCT-116	colon:	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
46	TAL1	chr8:8932237-8933171	K562	blood:	n/a	chr8:8932717-8932735
47	TBP	chr8:8932245-8933035	Hela-S3	cervix:	n/a	n/a
48	MAZ	chr8:8932104-8933216	IMR90	lung:	n/a	chr8:8932487-8932497 chr8:8932488-8932497 chr8:8932602-8932613 chr8:8932622-8932631 chr8:8932489-8932496 chr8:8932486-8932497 chr8:8932487-8932496 chr8:8932482-8932501 chr8:8932485-8932498
49	JUN	chr8:8932352-8933033	K562	blood:	n/a	chr8:8932623-8932632 chr8:8932358-8932366 chr8:8932464-8932474 chr8:8932648-8932660
50	MAX	chr8:8932305-8933078	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

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: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10087078	0.85[ASN][1000 genomes]
rs58227173	0.83[ASN][1000 genomes]
rs58353625	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73520781	0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs73522709	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs73662292	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73662296	0.98[AFR][1000 genomes]
rs7838663	0.89[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	chr8:8928600-8933400	Weak transcription	Psoas Muscle	Psoas
6	chr8:8928600-8934200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:8929600-8940000	Weak transcription	Aorta	Aorta
8	chr8:8930200-8933200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr8:8930200-8940400	Enhancers	Fetal Intestine Large	intestine
10	chr8:8930800-8934200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:8930800-8935800	Enhancers	HUVEC	blood vessel
12	chr8:8930800-8936400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr8:8931600-8933200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:8931600-8933600	Enhancers	Primary hematopoietic stem cells	blood
15	chr8:8931600-8935200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:8931600-8938000	Enhancers	Placenta	Placenta
17	chr8:8931800-8940800	Enhancers	Fetal Intestine Small	intestine
18	chr8:8932000-8933200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:8932000-8933200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr8:8932000-8933200	Enhancers	Placenta Amnion	Placenta Amnion
21	chr8:8932000-8933400	Enhancers	Stomach Mucosa	stomach
22	chr8:8932000-8933600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:8932000-8933600	Enhancers	Right Atrium	heart
24	chr8:8932000-8935400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:8932000-8937800	Enhancers	Fetal Heart	heart
26	chr8:8932200-8933200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:8932200-8933200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr8:8932200-8933200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr8:8932200-8933200	Flanking Active TSS	A549	lung
30	chr8:8932200-8933200	Flanking Active TSS	NHLF	lung
31	chr8:8932400-8933200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr8:8932400-8933200	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr8:8932400-8933200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:8932400-8933200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr8:8932400-8933200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr8:8932400-8933200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:8932400-8933200	Enhancers	Colon Smooth Muscle	Colon
38	chr8:8932600-8933200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:8932600-8933200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr8:8932600-8933200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:8932600-8933200	Flanking Active TSS	NH-A	brain
42	chr8:8932600-8933200	Flanking Active TSS	Osteobl	bone
43	chr8:8932600-8937200	Weak transcription	Gastric	stomach
44	chr8:8932600-8937400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr8:8932600-8939600	Weak transcription	Ovary	ovary
46	chr8:8932600-8951800	Weak transcription	Pancreas	Pancrea
47	chr8:8932800-8933200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:8932800-8933200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:8932800-8933200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:8932800-8933200	Enhancers	Primary neutrophils fromperipheralblood	blood

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