Variant report

Variant	rs73703791
Chromosome Location	chr8:124281323-124281324
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	EP300	chr8:124281206-124281521	SK-N-SH_RA	brain:	n/a	n/a
2	PBX3	chr8:124281109-124281691	SK-N-SH	brain:	n/a	chr8:124281360-124281371
3	REST	chr8:124281222-124281481	PFSK-1	brain:	n/a	n/a
4	SPI1	chr8:124281163-124281390	GM12878	blood:	n/a	chr8:124281324-124281333
5	POLR2A	chr8:124281001-124281831	PFSK-1	brain:	n/a	n/a
6	ELF1	chr8:124281231-124281464	K562	blood:	n/a	chr8:124281326-124281339
7	GATA3	chr8:124281125-124281735	SK-N-SH	brain:	n/a	chr8:124281326-124281336
8	GATA3	chr8:124281048-124281732	SK-N-SH	brain:	n/a	chr8:124281326-124281336
9	EP300	chr8:124281049-124281839	SK-N-SH	brain:	n/a	n/a
10	TEAD4	chr8:124281117-124281704	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr8:124281120-124281758	PFSK-1	brain:	n/a	n/a
12	STAT3	chr8:124281281-124281449	MCF10A-Er-Src	breast:	n/a	chr8:124281322-124281333
13	IRF1	chr8:124281150-124281686	K562	blood:	n/a	chr8:124281251-124281263 chr8:124281321-124281335 chr8:124281321-124281332 chr8:124281319-124281333
14	ZMIZ1	chr8:124281260-124281438	K562	blood:	n/a	n/a
15	TBL1XR1	chr8:124281220-124281559	K562	blood:	n/a	n/a
16	POLR2A	chr8:124281198-124281725	SK-N-SH	brain:	n/a	n/a
17	TAF1	chr8:124281140-124281695	PFSK-1	brain:	n/a	n/a
18	RCOR1	chr8:124281198-124282003	K562	blood:	n/a	n/a
19	TCF12	chr8:124281022-124281794	SK-N-SH	brain:	n/a	n/a
20	MAFK	chr8:124281320-124281328	Hela-S3	cervix:	n/a	n/a
21	SIN3AK20	chr8:124281228-124281557	PFSK-1	brain:	n/a	n/a
22	EP300	chr8:124281213-124281533	SK-N-SH_RA	brain:	n/a	n/a
23	STAT2	chr8:124281166-124281552	K562	blood:	n/a	chr8:124281319-124281334 chr8:124281322-124281333
24	JUND	chr8:124281308-124281580	K562	blood:	n/a	n/a
25	PBX3	chr8:124281132-124281760	SK-N-SH	brain:	n/a	chr8:124281360-124281371
26	SPI1	chr8:124281162-124281404	GM12891	blood:	n/a	chr8:124281324-124281333
27	TCF12	chr8:124281089-124281857	SK-N-SH	brain:	n/a	n/a
28	ATF1	chr8:124281234-124281497	K562	blood:	n/a	n/a
29	NFIC	chr8:124281134-124281844	SK-N-SH	brain:	n/a	n/a
30	EP300	chr8:124281196-124281514	K562	blood:	n/a	n/a
31	IKZF1	chr8:124281260-124281513	GM12878	blood:	n/a	n/a
32	ELF1	chr8:124281137-124281666	SK-N-SH	brain:	n/a	chr8:124281326-124281339
33	ARID3A	chr8:124281172-124281468	K562	blood:	n/a	n/a
34	JUND	chr8:124281109-124281781	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:124263337..124266584-chr8:124278018..124281362,4	K562	blood:
2	chr8:124268484..124272249-chr8:124280537..124283941,4	K562	blood:
3	chr8:124252240..124256259-chr8:124279136..124282026,3	MCF-7	breast:
4	chr8:124264230..124266419-chr8:124280121..124281703,2	MCF-7	breast:
5	chr8:124274961..124277233-chr8:124279589..124282392,3	K562	blood:
6	chr8:124274901..124276964-chr8:124280690..124283377,3	K562	blood:

Variant related genes	Relation type
ENSG00000238422	TF binding region
ZHX1-C8ORF76	TF binding region
ZHX1	TF binding region
ENSG00000189376	Chromatin interaction
ENSG00000165156	Chromatin interaction
ENSG00000222607	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11993945	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16898199	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56799031	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57280091	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59211559	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73703776	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73703792	0.94[AFR][1000 genomes];1.00[AMR][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	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
2	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv831449	chr8:124276685-124471740	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS 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	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124253600-124284200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr8:124254000-124284000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr8:124254000-124284000	Weak transcription	HSMMtube	muscle
4	chr8:124266200-124284400	Weak transcription	Stomach Mucosa	stomach
5	chr8:124267800-124283200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:124267800-124285000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr8:124267800-124285200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr8:124268200-124281400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr8:124268200-124284000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr8:124268200-124284200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:124268400-124284400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:124268800-124284200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr8:124270000-124285200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr8:124270200-124284000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr8:124270200-124284200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr8:124270200-124284200	Weak transcription	Fetal Kidney	kidney
17	chr8:124270400-124284000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr8:124270600-124281400	Weak transcription	Brain Hippocampus Middle	brain
19	chr8:124270600-124281400	Weak transcription	Small Intestine	intestine
20	chr8:124270600-124282000	Weak transcription	Colon Smooth Muscle	Colon
21	chr8:124270600-124283200	Weak transcription	Brain Angular Gyrus	brain
22	chr8:124270600-124283200	Weak transcription	Fetal Brain Female	brain
23	chr8:124270600-124283600	Weak transcription	HepG2	liver
24	chr8:124270600-124284000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr8:124270600-124284000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:124270600-124284000	Weak transcription	Brain Germinal Matrix	brain
27	chr8:124270600-124284000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr8:124270600-124284000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr8:124270600-124284000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr8:124270600-124284000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr8:124270600-124284200	Weak transcription	Brain Substantia Nigra	brain
32	chr8:124270600-124284400	Weak transcription	Primary T cells from cord blood	blood
33	chr8:124270600-124284600	Weak transcription	Aorta	Aorta
34	chr8:124270600-124284800	Weak transcription	Thymus	Thymus
35	chr8:124270600-124285000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:124270600-124285000	Weak transcription	Psoas Muscle	Psoas
37	chr8:124270600-124285200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr8:124270600-124285200	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr8:124270600-124285400	Weak transcription	Lung	lung
40	chr8:124270800-124283200	Weak transcription	Dnd41	blood
41	chr8:124270800-124283600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr8:124270800-124284000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr8:124270800-124284000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr8:124270800-124284000	Weak transcription	Fetal Brain Male	brain
45	chr8:124270800-124284000	Weak transcription	Fetal Intestine Large	intestine
46	chr8:124270800-124284400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr8:124270800-124284400	Weak transcription	HUVEC	blood vessel
48	chr8:124270800-124284800	Weak transcription	Fetal Muscle Leg	muscle
49	chr8:124270800-124285000	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr8:124270800-124285000	Weak transcription	Right Ventricle	heart

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