Variant report

Variant	rs73666403
Chromosome Location	chr8:10530055-10530056
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	FOS	chr8:10529963-10530314	MCF10A-Er-Src	breast:	n/a	chr8:10530127-10530138 chr8:10530130-10530140 chr8:10530130-10530140 chr8:10530130-10530140
2	JUN	chr8:10529891-10530298	HUVEC	blood vessel:	n/a	chr8:10530127-10530138 chr8:10530130-10530140 chr8:10530130-10530140 chr8:10530130-10530140
3	STAT3	chr8:10529907-10530308	MCF10A-Er-Src	breast:	n/a	chr8:10529932-10529940 chr8:10530049-10530061
4	JUND	chr8:10530017-10530237	H1-hESC	embryonic stem cell:	n/a	chr8:10530127-10530138 chr8:10530130-10530140 chr8:10530130-10530140 chr8:10530130-10530140
5	MXI1	chr8:10530047-10530077	Hela-S3	cervix:	n/a	n/a
6	STAT3	chr8:10529922-10530333	MCF10A-Er-Src	breast:	n/a	chr8:10529932-10529940 chr8:10530049-10530061
7	STAT3	chr8:10529929-10530367	MCF10A-Er-Src	breast:	n/a	chr8:10529932-10529940 chr8:10530049-10530061
8	FOS	chr8:10529963-10530299	MCF10A-Er-Src	breast:	n/a	chr8:10530127-10530138 chr8:10530130-10530140 chr8:10530130-10530140 chr8:10530130-10530140
9	JUND	chr8:10530047-10530233	K562	blood:	n/a	chr8:10530127-10530138 chr8:10530130-10530140 chr8:10530130-10530140 chr8:10530130-10530140
10	STAT3	chr8:10529717-10530304	MCF10A-Er-Src	breast:	n/a	chr8:10529932-10529940 chr8:10530049-10530061
11	FOS	chr8:10529926-10530501	HUVEC	blood vessel:	n/a	chr8:10530127-10530138 chr8:10530130-10530140 chr8:10530130-10530140 chr8:10530130-10530140
12	FOS	chr8:10529952-10530313	MCF10A-Er-Src	breast:	n/a	chr8:10530127-10530138 chr8:10530130-10530140 chr8:10530130-10530140 chr8:10530130-10530140
13	FOS	chr8:10529942-10530295	MCF10A-Er-Src	breast:	n/a	chr8:10530127-10530138 chr8:10530130-10530140 chr8:10530130-10530140 chr8:10530130-10530140
14	ELK4	chr8:10529991-10530430	Hela-S3	cervix:	n/a	n/a
15	JUND	chr8:10529999-10530251	H1-hESC	embryonic stem cell:	n/a	chr8:10530127-10530138 chr8:10530130-10530140 chr8:10530130-10530140 chr8:10530130-10530140
16	POLR2A	chr8:10529911-10530201	HUVEC	blood vessel:	n/a	n/a
17	JUND	chr8:10529980-10530303	H1-hESC	embryonic stem cell:	n/a	chr8:10530127-10530138 chr8:10530130-10530140 chr8:10530130-10530140 chr8:10530130-10530140
18	MYC	chr8:10529985-10530295	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:10530053-10530103	PrEC	prostate:	n/a
2	chr8:10530053-10530103	Hepatocyte	liver:	n/a
3	chr8:10530053-10530103	HRPEpiC	eye:	n/a
4	chr8:10530053-10530103	HEEpiC	esophagus:	n/a
5	chr8:10530053-10530103	SAEC	small airway:	n/a
6	chr8:10530053-10530103	GM12892	blood:	n/a
7	chr8:10530053-10530103	NHDF-neo	bronchial:	n/a
8	chr8:10530053-10530103	ProgFib	skin:	n/a
9	chr8:10530053-10530103	HRE	kidney:	n/a
10	chr8:10530053-10530103	AG10803	skin:	n/a
11	chr8:10530053-10530103	SKMC	muscle:	n/a
12	chr8:10530053-10530103	CMK	blood:	n/a
13	chr8:10530053-10530103	GM19239	blood:	n/a
14	chr8:10530053-10530103	T-47D	breast:	n/a
15	chr8:10530053-10530103	HNPCEpiC	eye:	n/a
16	chr8:10530053-10530103	K562	blood:	n/a
17	chr8:10530053-10530103	NT2-D1	testis:	n/a
18	chr8:10530053-10530103	HPAEpiC	pulmonary alveolar:	n/a
19	chr8:10530053-10530103	AG04449	skin:	fetal
20	chr8:10530053-10530103	SK-N-MC	brain:	n/a
21	chr8:10530053-10530103	HepG2	liver:	n/a
22	chr8:10530053-10530103	HCF	heart:	n/a
23	chr8:10530053-10530103	AG09309	skin:	n/a
24	chr8:10530053-10530103	HEK293	kidney:	embryo
25	chr8:10530053-10530103	HCT-116	colon:	n/a
26	chr8:10530053-10530103	GM06990	blood:	n/a
27	chr8:10530053-10530103	Hela-S3	cervix:	n/a
28	chr8:10530053-10530103	AG09319	gingival:	n/a
29	chr8:10530053-10530103	AG04450	lung:	fetal
30	chr8:10530053-10530103	BJ	skin:	n/a
31	chr8:10530053-10530103	H1-hESC	embryonic stem cell:	embryo
32	chr8:10530053-10530103	RPTEC	kidney:	n/a
33	chr8:10530053-10530103	SK-N-SH_RA	brain:	n/a
34	chr8:10530053-10530103	HMEC	breast:	n/a
35	chr8:10530053-10530103	HIPEpiC	eye:	n/a
36	chr8:10530053-10530103	NB4	blood:	n/a
37	chr8:10530053-10530103	SK-N-SH	brain:	n/a
38	chr8:10530053-10530103	HRCEpiC	kidney:	n/a
39	chr8:10530053-10530103	NHBE	bronchial:	n/a
40	chr8:10530053-10530103	MCF10A-Er-Src	breast:	n/a
41	chr8:10530053-10530103	LNCaP	prostate:	n/a
42	chr8:10530053-10530103	BE2_C	brain:	n/a
43	chr8:10530053-10530103	GM12878	blood:	n/a
44	chr8:10530053-10530103	A549	lung:	n/a
45	chr8:10530053-10530103	IMR90	lung:	fetal
46	chr8:10530053-10530103	AoSMC	blood vessel:	n/a
47	chr8:10530053-10530103	NH-A	brain:	n/a
48	chr8:10530053-10530103	ovcar-3	ovarian:	n/a
49	chr8:10530053-10530103	Jurkat	blood:	n/a
50	chr8:10530053-10530103	HL-60	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10528112..10530692-chr8:10696880..10699073,2	K562	blood:

Variant related genes	Relation type
C8orf74	TF binding region
C8orf74	CpG island
ENSG00000254093	Chromatin interaction
ENSG00000253695	Chromatin interaction
ENSG00000258724	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs56335527	1.00[AFR][1000 genomes]
rs57949484	1.00[AFR][1000 genomes]
rs58464476	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1025557	chr8:10216726-10555187	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers 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
6	nsv1015932	chr8:10357101-10597856	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv1021048	chr8:10504395-10591896	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
8	nsv515898	chr8:10530037-10557407	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv527184	chr8:10530037-10589913	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10526800-10537600	Weak transcription	Gastric	stomach
2	chr8:10528600-10531000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:10529000-10530600	Enhancers	Spleen	Spleen
4	chr8:10529000-10531000	Enhancers	HUVEC	blood vessel
5	chr8:10529200-10530600	Enhancers	Esophagus	oesophagus
6	chr8:10529200-10530600	Enhancers	HMEC	breast
7	chr8:10529400-10530800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr8:10529400-10530800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:10529600-10530600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:10529600-10530600	Enhancers	Brain Anterior Caudate	brain
11	chr8:10529600-10530800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:10529600-10530800	Enhancers	Lung	lung
13	chr8:10529600-10532800	Weak transcription	K562	blood
14	chr8:10529800-10530400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:10529800-10530400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:10529800-10530400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
17	chr8:10529800-10530400	Enhancers	NHEK	skin
18	chr8:10529800-10530600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr8:10529800-10531000	Enhancers	Hela-S3	cervix
20	chr8:10530000-10530200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr8:10530000-10530400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr8:10530000-10530400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:10530000-10530400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr8:10530000-10530600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr8:10530000-10530600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:10530000-10530800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:10530000-10532600	Weak transcription	A549	lung

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