Variant report

Variant	rs10094803
Chromosome Location	chr8:117887525-117887526
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	IRF1	chr8:117886391-117887668	K562	blood:	n/a	chr8:117887568-117887580
2	POLR2A	chr8:117885541-117887651	GM12891	blood:	n/a	n/a
3	EP300	chr8:117886541-117887724	K562	blood:	n/a	chr8:117886680-117886689 chr8:117887164-117887173
4	POLR2A	chr8:117885510-117887543	GM12878	blood:	n/a	n/a
5	FOXM1	chr8:117886295-117887592	ECC-1	luminal epithelium:	n/a	n/a
6	HCFC1	chr8:117885500-117887725	Hela-S3	cervix:	n/a	n/a
7	MYBL2	chr8:117886765-117887546	HepG2	liver:	n/a	n/a
8	GATA1	chr8:117887027-117887599	PBDE	blood:	n/a	n/a
9	POLR2A	chr8:117886305-117887544	SK-N-SH	brain:	n/a	n/a
10	TBL1XR1	chr8:117886855-117887663	K562	blood:	n/a	n/a
11	RUNX3	chr8:117886792-117887570	GM12878	blood:	n/a	n/a
12	POLR2A	chr8:117886319-117887571	U87	brain:	n/a	n/a
13	ELF1	chr8:117886727-117887541	MCF-7	breast:	n/a	chr8:117886964-117886973 chr8:117886960-117886972 chr8:117886966-117886978
14	MAX	chr8:117886318-117887534	ECC-1	luminal epithelium:	n/a	chr8:117887121-117887131 chr8:117886715-117886724
15	POLR2A	chr8:117887133-117887528	HepG2	liver:	n/a	n/a
16	POLR2A	chr8:117886418-117887880	GM12878	blood:	n/a	n/a
17	POLR2A	chr8:117886535-117887551	HCT-116	colon:	n/a	n/a
18	POLR2A	chr8:117885606-117887533	MCF10A-Er-Src	breast:	n/a	n/a
19	KAP1	chr8:117887429-117888311	K562	blood:	n/a	n/a
20	NRF1	chr8:117886412-117887632	SK-N-SH	brain:	n/a	chr8:117887146-117887160 chr8:117887145-117887156 chr8:117887096-117887110 chr8:117887146-117887157 chr8:117887099-117887113 chr8:117887280-117887291 chr8:117887101-117887110 chr8:117887210-117887224 chr8:117887280-117887294 chr8:117887099-117887110
21	FOXM1	chr8:117886356-117887583	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr8:117886311-117887553	H1-neurons	neurons:	n/a	n/a
23	MAX	chr8:117886312-117887546	A549	lung:	n/a	chr8:117887121-117887131 chr8:117886715-117886724
24	NRF1	chr8:117886920-117887544	Hela-S3	cervix:	n/a	chr8:117887146-117887160 chr8:117887145-117887156 chr8:117887096-117887110 chr8:117887146-117887157 chr8:117887099-117887113 chr8:117887280-117887291 chr8:117887101-117887110 chr8:117887210-117887224 chr8:117887280-117887294 chr8:117887099-117887110
25	ZNF143	chr8:117886959-117887535	K562	blood:	n/a	n/a
26	GABPA	chr8:117886689-117887572	MCF-7	breast:	n/a	chr8:117887146-117887160 chr8:117887096-117887110 chr8:117887146-117887157 chr8:117887099-117887113 chr8:117887280-117887291 chr8:117887101-117887110 chr8:117887210-117887224 chr8:117887280-117887294 chr8:117887099-117887110
27	ARID3A	chr8:117887057-117887571	HepG2	liver:	n/a	n/a
28	SETDB1	chr8:117887082-117888255	U2OS	brain:	n/a	chr8:117887281-117887290 chr8:117887100-117887109 chr8:117887147-117887156
29	POLR2A	chr8:117885872-117887526	Raji	blood:	n/a	n/a
30	RFX5	chr8:117885830-117887543	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr8:117887051-117887545	H1-hESC	embryonic stem cell:	n/a	n/a
32	REST	chr8:117885701-117887811	H1-neurons	neurons:	n/a	chr8:117886314-117886327 chr8:117886270-117886283 chr8:117886311-117886324 chr8:117886957-117886967 chr8:117886375-117886393
33	POLR2A	chr8:117886313-117887630	U87	brain:	n/a	n/a
34	ATF2	chr8:117886779-117887536	GM12878	blood:	n/a	n/a
35	FOXM1	chr8:117886150-117887655	ECC-1	luminal epithelium:	n/a	n/a
36	FOXM1	chr8:117886752-117887573	MCF-7	breast:	n/a	n/a
37	RCOR1	chr8:117886426-117887533	Hela-S3	cervix:	n/a	n/a
38	TBP	chr8:117886927-117887540	GM12878	blood:	n/a	n/a
39	MXI1	chr8:117885043-117887774	SK-N-SH	brain:	n/a	n/a
40	TBP	chr8:117886902-117887558	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr8:117886592-117887766	PFSK-1	brain:	n/a	n/a
42	MAZ	chr8:117886320-117887562	IMR90	lung:	n/a	chr8:117887121-117887131 chr8:117886715-117886724
43	MAZ	chr8:117886212-117887528	GM12878	blood:	n/a	chr8:117887121-117887131 chr8:117886715-117886724
44	POLR2A	chr8:117886319-117887667	PFSK-1	brain:	n/a	n/a
45	MAX	chr8:117886383-117887546	A549	lung:	n/a	chr8:117887121-117887131 chr8:117886715-117886724
46	TCF12	chr8:117886255-117887538	A549	lung:	n/a	chr8:117886264-117886274
47	E2F6	chr8:117886750-117887611	A549	lung:	n/a	chr8:117887100-117887109 chr8:117886962-117886972 chr8:117887147-117887156 chr8:117887281-117887290
48	POLR2A	chr8:117886377-117887532	HUVEC	blood vessel:	n/a	n/a
49	POLR2A	chr8:117886764-117887553	SK-N-MC	brain:	n/a	n/a
50	RFX5	chr8:117887010-117887555	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:117863976..117865833-chr8:117886990..117888804,2	MCF-7	breast:
2	chr8:117775214..117779057-chr8:117886515..117888588,5	K562	blood:
3	chr8:117776578..117778707-chr8:117885688..117887716,2	MCF-7	breast:
4	chr8:117860936..117862672-chr8:117885542..117887768,2	MCF-7	breast:
5	chr8:117777051..117780452-chr8:117884154..117888588,6	K562	blood:

Variant related genes	Relation type
MIR3610	TF binding region
RAD21	TF binding region
ENSG00000147677	Chromatin interaction
ENSG00000147679	Chromatin interaction
ENSG00000164754	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10282816	1.00[EUR][1000 genomes]
rs10283144	1.00[EUR][1000 genomes]
rs10283150	1.00[EUR][1000 genomes]
rs11990712	1.00[EUR][1000 genomes]
rs12543129	1.00[EUR][1000 genomes]
rs12548895	1.00[EUR][1000 genomes]
rs1348797	1.00[EUR][1000 genomes]
rs14795	1.00[EUR][1000 genomes]
rs16888925	1.00[EUR][1000 genomes]
rs16888945	1.00[EUR][1000 genomes]
rs16889007	1.00[EUR][1000 genomes]
rs16889037	1.00[EUR][1000 genomes]
rs16889074	1.00[EUR][1000 genomes]
rs16889209	1.00[EUR][1000 genomes]
rs16889218	1.00[EUR][1000 genomes]
rs16889220	1.00[EUR][1000 genomes]
rs16889226	1.00[EUR][1000 genomes]
rs17435846	1.00[EUR][1000 genomes]
rs17435860	1.00[EUR][1000 genomes]
rs1838839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2241981	1.00[EUR][1000 genomes]
rs2241982	1.00[EUR][1000 genomes]
rs2289937	1.00[EUR][1000 genomes]
rs28462971	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2921771	1.00[EUR][1000 genomes]
rs2921782	1.00[EUR][1000 genomes]
rs2921783	1.00[EUR][1000 genomes]
rs2921784	1.00[EUR][1000 genomes]
rs2921785	1.00[EUR][1000 genomes]
rs2921787	1.00[EUR][1000 genomes]
rs2921788	1.00[EUR][1000 genomes]
rs2921790	1.00[EUR][1000 genomes]
rs3020111	1.00[EUR][1000 genomes]
rs3020125	1.00[EUR][1000 genomes]
rs3020128	1.00[EUR][1000 genomes]
rs3020130	1.00[EUR][1000 genomes]
rs3020131	1.00[EUR][1000 genomes]
rs3020133	1.00[EUR][1000 genomes]
rs3020135	1.00[EUR][1000 genomes]
rs3020138	1.00[EUR][1000 genomes]
rs3020139	1.00[EUR][1000 genomes]
rs3020181	1.00[EUR][1000 genomes]
rs55952416	1.00[EUR][1000 genomes]
rs56095633	1.00[EUR][1000 genomes]
rs57202151	1.00[EUR][1000 genomes]
rs6469664	1.00[EUR][1000 genomes]
rs6993568	1.00[EUR][1000 genomes]
rs7820245	1.00[EUR][1000 genomes]
rs7831930	1.00[EUR][1000 genomes]
rs7836088	1.00[EUR][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	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv891407	chr8:117881393-117895239	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	nsv891408	chr8:117884270-117895239	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117881200-117887800	Active TSS	GM12878-XiMat	blood
2	chr8:117883600-117887600	Active TSS	HSMMtube	muscle
3	chr8:117884000-117887800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr8:117884000-117887800	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr8:117884200-117887600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:117884200-117887600	Active TSS	K562	blood
7	chr8:117884400-117887600	Active TSS	Thymus	Thymus
8	chr8:117884400-117887800	Active TSS	A549	lung
9	chr8:117884600-117887600	Active TSS	H1 Cell Line	embryonic stem cell
10	chr8:117884600-117887600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:117884600-117887600	Active TSS	Aorta	Aorta
12	chr8:117884600-117887600	Active TSS	Fetal Muscle Trunk	muscle
13	chr8:117884600-117887600	Active TSS	Right Atrium	heart
14	chr8:117884600-117887600	Active TSS	HSMM	muscle
15	chr8:117884600-117887800	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr8:117884800-117887600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:117884800-117887600	Active TSS	Primary T cells fromperipheralblood	blood
18	chr8:117884800-117887600	Active TSS	Fetal Intestine Large	intestine
19	chr8:117884800-117887600	Active TSS	Fetal Thymus	thymus
20	chr8:117884800-117887600	Active TSS	Right Ventricle	heart
21	chr8:117884800-117887800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr8:117885000-117887600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:117885000-117887600	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr8:117885000-117887600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:117885000-117887600	Active TSS	Psoas Muscle	Psoas
26	chr8:117885000-117887600	Active TSS	HMEC	breast
27	chr8:117885000-117887600	Active TSS	NHDF-Ad	bronchial
28	chr8:117885000-117887600	Active TSS	NHLF	lung
29	chr8:117885200-117887600	Active TSS	Fetal Intestine Small	intestine
30	chr8:117885200-117887600	Active TSS	Placenta	Placenta
31	chr8:117885200-117887800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr8:117885200-117887800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:117885200-117887800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:117885200-117887800	Active TSS	NHEK	skin
35	chr8:117885400-117887600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:117885400-117887600	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr8:117885400-117887600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr8:117885400-117887600	Active TSS	Muscle Satellite Cultured Cells	--
39	chr8:117885400-117887600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr8:117885400-117887600	Active TSS	Fetal Heart	heart
41	chr8:117885400-117887600	Active TSS	Fetal Kidney	kidney
42	chr8:117885400-117887600	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr8:117885400-117887600	Active TSS	Fetal Muscle Leg	muscle
44	chr8:117885400-117887600	Active TSS	Fetal Stomach	stomach
45	chr8:117885400-117887600	Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr8:117885400-117887600	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr8:117885400-117887600	Active TSS	Stomach Smooth Muscle	stomach
48	chr8:117885400-117887800	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr8:117885400-117887800	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr8:117885600-117887600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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