Variant report

Variant	rs73688689
Chromosome Location	chr8:86158794-86158795
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	EBF1	chr8:86157601-86158824	GM12878	blood:	n/a	n/a
2	STAT3	chr8:86158374-86158835	MCF10A-Er-Src	breast:	n/a	n/a
3	MYC	chr8:86158120-86158844	MCF10A-Er-Src	breast:	n/a	n/a
4	JUN	chr8:86157095-86158934	K562	blood:	n/a	chr8:86157679-86157689 chr8:86157678-86157690 chr8:86157843-86157854 chr8:86157679-86157689 chr8:86157679-86157689 chr8:86157679-86157688 chr8:86157679-86157689
5	EP300	chr8:86158744-86158914	GM12878	blood:	n/a	n/a
6	RFX5	chr8:86157421-86158860	IMR90	lung:	n/a	chr8:86158392-86158407 chr8:86158391-86158405
7	RFX5	chr8:86157596-86159044	K562	blood:	n/a	chr8:86158392-86158407 chr8:86158391-86158405
8	RFX5	chr8:86157592-86158812	Hela-S3	cervix:	n/a	chr8:86158392-86158407 chr8:86158391-86158405
9	POLR2A	chr8:86157482-86158811	MCF10A-Er-Src	breast:	n/a	n/a
10	STAT3	chr8:86158224-86158887	MCF10A-Er-Src	breast:	n/a	n/a
11	MAX	chr8:86157002-86158802	HCT-116	colon:	n/a	chr8:86157446-86157455 chr8:86157447-86157456 chr8:86157444-86157457 chr8:86157444-86157452 chr8:86157448-86157455 chr8:86157446-86157456 chr8:86157680-86157689 chr8:86157995-86158005 chr8:86157445-86157456 chr8:86157441-86157460
12	STAT3	chr8:86158312-86158919	MCF10A-Er-Src	breast:	n/a	n/a
13	RFX5	chr8:86157264-86158988	SK-N-SH	brain:	n/a	chr8:86158392-86158407 chr8:86158391-86158405
14	RFX5	chr8:86157542-86158870	HepG2	liver:	n/a	chr8:86158392-86158407 chr8:86158391-86158405
15	STAT3	chr8:86158355-86158836	MCF10A-Er-Src	breast:	n/a	n/a
16	TBP	chr8:86158144-86158866	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:86158140..86160236-chr8:86162041..86163568,2	K562	blood:

Variant related genes	Relation type
ENSG00000258256	TF binding region
ENSG00000257962	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs4150842	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4150875	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4150888	0.81[AFR][1000 genomes]
rs4150892	0.81[AFR][1000 genomes]
rs4150899	0.81[AFR][1000 genomes]
rs4150978	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55716338	1.00[AFR][1000 genomes]
rs56000993	1.00[AFR][1000 genomes]
rs56391532	1.00[AFR][1000 genomes]
rs56696632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56910369	1.00[AMR][1000 genomes]
rs57413097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58060795	0.81[AFR][1000 genomes]
rs58078635	1.00[AFR][1000 genomes]
rs58532476	1.00[AFR][1000 genomes]
rs58547590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61315346	1.00[AFR][1000 genomes]
rs73688676	1.00[AMR][1000 genomes]
rs73688677	1.00[AMR][1000 genomes]
rs73688685	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73688687	1.00[AFR][1000 genomes]
rs73688696	1.00[AFR][1000 genomes]
rs73688700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73691803	1.00[AFR][1000 genomes]
rs73691805	1.00[AFR][1000 genomes]
rs73691806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73691808	1.00[AFR][1000 genomes]
rs73691810	1.00[AFR][1000 genomes]
rs73691811	1.00[AFR][1000 genomes]
rs73691812	1.00[AFR][1000 genomes]
rs73691814	1.00[AFR][1000 genomes]
rs73691815	1.00[AFR][1000 genomes]
rs73691817	1.00[AFR][1000 genomes]
rs73691820	1.00[AFR][1000 genomes]
rs73691824	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv971329	chr8:86094967-86183119	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1018483	chr8:86142258-86547831	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2761441	chr8:86155592-86167129	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86157000-86158800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr8:86157200-86158800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr8:86157200-86158800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
4	chr8:86157200-86158800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:86157200-86158800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr8:86157200-86158800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:86157200-86158800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:86157200-86158800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:86157200-86158800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:86157200-86158800	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr8:86157200-86158800	Active TSS	Psoas Muscle	Psoas
12	chr8:86157200-86159000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:86157200-86159000	Active TSS	NHEK	skin
14	chr8:86157400-86158800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr8:86157400-86158800	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr8:86157400-86158800	Active TSS	Right Atrium	heart
17	chr8:86157400-86158800	Active TSS	HSMM	muscle
18	chr8:86157600-86158800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:86157600-86158800	Active TSS	Duodenum Mucosa	Duodenum
20	chr8:86157600-86158800	Active TSS	Fetal Intestine Large	intestine
21	chr8:86157600-86158800	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr8:86157600-86158800	Active TSS	Rectal Smooth Muscle	rectum
23	chr8:86157600-86158800	Active TSS	Right Ventricle	heart
24	chr8:86157600-86158800	Active TSS	NHDF-Ad	bronchial
25	chr8:86157600-86158800	Active TSS	NHLF	lung
26	chr8:86157600-86159000	Active TSS	HepG2	liver
27	chr8:86157600-86159200	Active TSS	HMEC	breast
28	chr8:86157800-86158800	Active TSS	Liver	Liver
29	chr8:86157800-86158800	Active TSS	Fetal Lung	lung
30	chr8:86158000-86158800	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr8:86158200-86158800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr8:86158200-86158800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr8:86158200-86158800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr8:86158200-86158800	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr8:86158200-86158800	Flanking Active TSS	GM12878-XiMat	blood
36	chr8:86158200-86158800	Flanking Active TSS	HUVEC	blood vessel
37	chr8:86158200-86158800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr8:86158400-86158800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:86158400-86158800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
40	chr8:86158400-86158800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:86158400-86158800	Enhancers	Placenta Amnion	Placenta Amnion
42	chr8:86158400-86158800	Flanking Active TSS	HSMMtube	muscle
43	chr8:86158400-86172600	Weak transcription	Left Ventricle	heart
44	chr8:86158400-86174000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr8:86158400-86178200	Weak transcription	Small Intestine	intestine
46	chr8:86158400-86178200	Weak transcription	Stomach Mucosa	stomach
47	chr8:86158400-86179400	Weak transcription	Gastric	stomach
48	chr8:86158400-86180800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr8:86158400-86185800	Weak transcription	Lung	lung
50	chr8:86158400-86188200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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