Variant report

Variant	rs73331733
Chromosome Location	chr8:123792303-123792304
allele	C/T
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	MAX	chr8:123792179-123793836	ECC-1	luminal epithelium:	n/a	chr8:123793484-123793499 chr8:123793488-123793498 chr8:123793488-123793498 chr8:123793486-123793499 chr8:123793487-123793498 chr8:123793489-123793498
2	EBF1	chr8:123792234-123792713	GM12878	blood:	n/a	chr8:123792515-123792526
3	MAX	chr8:123792185-123792928	A549	lung:	n/a	n/a
4	YY1	chr8:123792189-123792921	H1-hESC	embryonic stem cell:	n/a	n/a
5	FOXM1	chr8:123792233-123792657	GM12878	blood:	n/a	n/a
6	SMARCC1	chr8:123792111-123793751	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr8:123792301-123792705	IMR90	lung:	n/a	n/a
8	EP300	chr8:123792176-123793182	ECC-1	luminal epithelium:	n/a	chr8:123792673-123792689 chr8:123792321-123792330
9	NRF1	chr8:123792220-123792669	GM12878	blood:	n/a	chr8:123792574-123792583
10	PML	chr8:123792223-123793941	MCF-7	breast:	n/a	n/a
11	POLR2A	chr8:123792236-123794194	HepG2	liver:	n/a	n/a
12	MXI1	chr8:123792165-123795382	SK-N-SH	brain:	n/a	chr8:123793489-123793498
13	TAF1	chr8:123792294-123792806	HepG2	liver:	n/a	n/a
14	MAX	chr8:123792098-123794120	HepG2	liver:	n/a	chr8:123793484-123793499 chr8:123793488-123793498 chr8:123793488-123793498 chr8:123793486-123793499 chr8:123793487-123793498 chr8:123793489-123793498
15	ELF1	chr8:123792139-123792555	HepG2	liver:	n/a	n/a
16	POLR2A	chr8:123792245-123795904	GM19193	blood:	n/a	n/a
17	STAT5A	chr8:123792173-123792666	GM12878	blood:	n/a	n/a
18	EGR1	chr8:123792193-123795630	MCF-7	breast:	n/a	chr8:123795287-123795301 chr8:123794084-123794099 chr8:123794094-123794104 chr8:123794714-123794724 chr8:123794901-123794915 chr8:123792469-123792479 chr8:123792892-123792902 chr8:123795546-123795570 chr8:123794900-123794913 chr8:123795305-123795319 chr8:123794934-123794943 chr8:123794085-123794098 chr8:123794088-123794103 chr8:123792573-123792583 chr8:123792569-123792579
19	YY1	chr8:123792233-123794411	HepG2	liver:	n/a	chr8:123794292-123794301 chr8:123792931-123792942 chr8:123794109-123794126 chr8:123794110-123794126
20	POLR2A	chr8:123792147-123795755	GM18951	blood:	n/a	n/a
21	JUND	chr8:123792298-123792690	A549	lung:	n/a	chr8:123792573-123792582
22	MYBL2	chr8:123791994-123793944	HepG2	liver:	n/a	n/a
23	RAD21	chr8:123792294-123792729	HepG2	liver:	n/a	n/a
24	MAX	chr8:123792110-123795115	A549	lung:	n/a	chr8:123793484-123793499 chr8:123793488-123793498 chr8:123794715-123794725 chr8:123793488-123793498 chr8:123793486-123793499 chr8:123793487-123793498 chr8:123793489-123793498
25	GABPA	chr8:123791934-123794067	MCF-7	breast:	n/a	chr8:123792574-123792583
26	FOXM1	chr8:123792186-123792691	GM12878	blood:	n/a	n/a
27	GATA3	chr8:123792053-123794241	MCF-7	breast:	n/a	n/a
28	RCOR1	chr8:123792194-123793783	Hela-S3	cervix:	n/a	n/a
29	MAX	chr8:123792237-123794034	GM12878	blood:	n/a	chr8:123793484-123793499 chr8:123793488-123793498 chr8:123793488-123793498 chr8:123793486-123793499 chr8:123793487-123793498 chr8:123793489-123793498
30	SMARCB1	chr8:123792247-123795358	Hela-S3	cervix:	n/a	n/a
31	RAD21	chr8:123792298-123792683	Hela-S3	cervix:	n/a	n/a
32	TCF12	chr8:123792050-123794118	A549	lung:	n/a	n/a
33	POLR2A	chr8:123792282-123792752	GM12878	blood:	n/a	n/a
34	RELA	chr8:123791694-123796465	GM12891	blood:	n/a	chr8:123793180-123793189 chr8:123793180-123793189
35	POLR2A	chr8:123791973-123796734	GM12891	blood:	n/a	n/a
36	ZBTB7A	chr8:123792255-123794433	ECC-1	luminal epithelium:	n/a	chr8:123793231-123793245
37	FOXA1	chr8:123792229-123792750	HepG2	liver:	n/a	n/a
38	TAF1	chr8:123792296-123792620	Hela-S3	cervix:	n/a	n/a
39	RAD21	chr8:123792254-123793127	MCF-7	breast:	n/a	chr8:123792926-123792935
40	CTCF	chr8:123792105-123793883	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr8:123792003-123796014	GM12878	blood:	n/a	n/a
42	ZEB1	chr8:123792029-123794362	HepG2	liver:	n/a	chr8:123794179-123794192
43	POLR2A	chr8:123792250-123795171	Hela-S3	cervix:	n/a	n/a
44	MAX	chr8:123791907-123795537	HCT-116	colon:	n/a	chr8:123793484-123793499 chr8:123793488-123793498 chr8:123794715-123794725 chr8:123793488-123793498 chr8:123793486-123793499 chr8:123793487-123793498 chr8:123793489-123793498
45	USF2	chr8:123792303-123792538	GM12878	blood:	n/a	n/a
46	PAX5	chr8:123792215-123792590	GM12878	blood:	n/a	n/a
47	MBD4	chr8:123792203-123793273	HepG2	liver:	n/a	n/a
48	REST	chr8:123792247-123792849	HepG2	liver:	n/a	chr8:123792385-123792405 chr8:123792385-123792405 chr8:123792678-123792688 chr8:123792389-123792402
49	MTA3	chr8:123791962-123796055	GM12878	blood:	n/a	n/a
50	TAF7	chr8:123792277-123792845	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:123791477..123794116-chr8:124036051..124038302,3	MCF-7	breast:
2	chr8:123779911..123781612-chr8:123792197..123793707,2	MCF-7	breast:
3	chr8:123777545..123779806-chr8:123790238..123792556,2	MCF-7	breast:
4	chr8:123792074..123794895-chr8:123996726..123999386,2	MCF-7	breast:
5	chr8:123790213..123798071-chr8:123857056..123862100,10	MCF-7	breast:
6	chr8:123745627..123746418-chr8:123792081..123792864,2	MCF-7	breast:
7	chr8:123714069..123717804-chr8:123791725..123795357,5	MCF-7	breast:
8	chr8:123792122..123792982-chr8:123828775..123829667,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-973F15.1.1-3	chr8:123792210-123793069	ENSG00000272384.1

Variant related genes	Relation type
ZHX2	TF binding region
ENSG00000272043	TF binding region
ENSG00000221542	Chromatin interaction
ENSG00000263443	Chromatin interaction
ENSG00000235165	Chromatin interaction
ENSG00000259631	Chromatin interaction
ENSG00000136986	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10505426	1.00[EUR][1000 genomes]
rs11990273	1.00[EUR][1000 genomes]
rs16897554	1.00[EUR][1000 genomes]
rs16897576	1.00[EUR][1000 genomes]
rs1992669	1.00[EUR][1000 genomes]
rs60296517	1.00[EUR][1000 genomes]
rs6988421	1.00[EUR][1000 genomes]
rs6993388	1.00[EUR][1000 genomes]
rs7008874	1.00[EUR][1000 genomes]
rs7017646	1.00[AMR][1000 genomes]
rs73331728	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:123791400-123792400	Flanking Active TSS	HepG2	liver
2	chr8:123791600-123792400	Enhancers	Pancreas	Pancrea
3	chr8:123791800-123792600	Enhancers	Small Intestine	intestine
4	chr8:123792000-123792400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:123792000-123792400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
6	chr8:123792000-123792400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
7	chr8:123792000-123792400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
8	chr8:123792000-123792400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:123792000-123792400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:123792000-123792400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr8:123792000-123792400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr8:123792000-123792400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr8:123792000-123792400	Flanking Active TSS	Brain Germinal Matrix	brain
14	chr8:123792000-123792400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr8:123792000-123792400	Flanking Active TSS	Colon Smooth Muscle	Colon
16	chr8:123792000-123792400	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr8:123792000-123792400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr8:123792000-123792400	Enhancers	Fetal Lung	lung
19	chr8:123792000-123792400	Enhancers	Left Ventricle	heart
20	chr8:123792000-123792400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr8:123792000-123792400	Flanking Bivalent TSS/Enh	Thymus	Thymus
22	chr8:123792000-123792400	Flanking Active TSS	GM12878-XiMat	blood
23	chr8:123792000-123792400	Flanking Active TSS	Hela-S3	cervix
24	chr8:123792000-123792600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:123792000-123792600	Enhancers	Fetal Heart	heart
26	chr8:123792000-123792600	Enhancers	Stomach Mucosa	stomach
27	chr8:123792000-123793000	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr8:123792000-123793200	Flanking Active TSS	Primary B cells from peripheral blood	blood
29	chr8:123792000-123793200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr8:123792000-123793400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr8:123792000-123793800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
32	chr8:123792000-123793800	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr8:123792000-123794400	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr8:123792000-123795400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr8:123792000-123795400	Active TSS	Rectal Smooth Muscle	rectum
36	chr8:123792200-123792400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr8:123792200-123792400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
38	chr8:123792200-123792400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:123792200-123792400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:123792200-123792400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:123792200-123792400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:123792200-123792400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr8:123792200-123792400	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:123792200-123792400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr8:123792200-123792400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
46	chr8:123792200-123792400	Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr8:123792200-123792400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr8:123792200-123792400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr8:123792200-123792400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr8:123792200-123792400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

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