Variant report

Variant	rs73237717
Chromosome Location	chr8:65490758-65490759
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:65489458-65495014	GM18951	blood:	n/a	n/a
2	POLR2A	chr8:65489407-65498990	GM19099	blood:	n/a	n/a
3	MAX	chr8:65490382-65490962	H1-hESC	embryonic stem cell:	n/a	chr8:65490720-65490729
4	CTBP2	chr8:65489556-65491307	H1-hESC	embryonic stem cell:	n/a	n/a
5	SUZ12	chr8:65487999-65491423	NT2-D1	testis:	n/a	n/a
6	CEBPB	chr8:65490501-65490801	H1-hESC	embryonic stem cell:	n/a	n/a
7	SUZ12	chr8:65489480-65491466	H1-hESC	embryonic stem cell:	n/a	n/a
8	ESRRA	chr8:65488325-65490817	GM12878	blood:	n/a	chr8:65488566-65488582 chr8:65488802-65488811 chr8:65488854-65488864 chr8:65488854-65488864 chr8:65488852-65488865 chr8:65488852-65488868 chr8:65488853-65488872 chr8:65488852-65488864
9	POLR2A	chr8:65490395-65490774	GM12891	blood:	n/a	n/a
10	ZNF143	chr8:65490689-65490882	GM12878	blood:	n/a	n/a
11	BACH1	chr8:65490752-65490996	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr8:65489580-65494694	GM19193	blood:	n/a	n/a
13	POLR2A	chr8:65489464-65493494	GM12891	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:65490710-65490760	SK-N-MC	brain:	n/a
2	chr8:65490710-65490760	PrEC	prostate:	n/a
3	chr8:65490710-65490760	AoSMC	blood vessel:	n/a
4	chr8:65490710-65490760	HRE	kidney:	n/a
5	chr8:65490710-65490760	GM12892	blood:	n/a
6	chr8:65490710-65490760	NH-A	brain:	n/a
7	chr8:65490710-65490760	NHDF-neo	bronchial:	n/a
8	chr8:65490710-65490760	PFSK-1	brain:	n/a
9	chr8:65490710-65490760	HUVEC	blood vessel:	n/a
10	chr8:65490710-65490760	HAEpiC	amniotic membrane:	n/a
11	chr8:65490710-65490760	ProgFib	skin:	n/a
12	chr8:65490710-65490760	HCF	heart:	n/a
13	chr8:65490710-65490760	AG10803	skin:	n/a
14	chr8:65490710-65490760	HCM	heart:	n/a
15	chr8:65490710-65490760	NT2-D1	testis:	n/a
16	chr8:65490710-65490760	LNCaP	prostate:	n/a
17	chr8:65490710-65490760	MCF10A-Er-Src	breast:	n/a
18	chr8:65490710-65490760	ECC-1	luminal epithelium:	n/a
19	chr8:65490710-65490760	Hepatocyte	liver:	n/a
20	chr8:65490710-65490760	SAEC	small airway:	n/a
21	chr8:65490710-65490760	GM06990	blood:	n/a
22	chr8:65490710-65490760	K562	blood:	n/a
23	chr8:65490710-65490760	T-47D	breast:	n/a
24	chr8:65490710-65490760	BJ	skin:	n/a
25	chr8:65490710-65490760	NHBE	bronchial:	n/a
26	chr8:65490710-65490760	RPTEC	kidney:	n/a
27	chr8:65490710-65490760	HCPEpiC	choroid plexus:	n/a
28	chr8:65490710-65490760	HRPEpiC	eye:	n/a
29	chr8:65490710-65490760	Hela-S3	cervix:	n/a
30	chr8:65490710-65490760	HNPCEpiC	eye:	n/a
31	chr8:65490710-65490760	HEK293	kidney:	embryo
32	chr8:65490710-65490760	H1-hESC	embryonic stem cell:	embryo
33	chr8:65490710-65490760	AG09319	gingival:	n/a
34	chr8:65490710-65490760	MCF-7	breast:	n/a
35	chr8:65490710-65490760	SK-N-SH_RA	brain:	n/a
36	chr8:65490710-65490760	Jurkat	blood:	n/a
37	chr8:65490710-65490760	HEEpiC	esophagus:	n/a
38	chr8:65490710-65490760	NB4	blood:	n/a
39	chr8:65490710-65490760	AG04449	skin:	fetal
40	chr8:65490710-65490760	SKMC	muscle:	n/a
41	chr8:65490710-65490760	GM19239	blood:	n/a
42	chr8:65490710-65490760	HPAEpiC	pulmonary alveolar:	n/a
43	chr8:65490710-65490760	Caco-2	colon:	n/a
44	chr8:65490710-65490760	SK-N-SH	brain:	n/a
45	chr8:65490710-65490760	A549	lung:	n/a
46	chr8:65490710-65490760	PANC-1	pancreas:	n/a
47	chr8:65490710-65490760	AG09309	skin:	n/a
48	chr8:65490710-65490760	HCT-116	colon:	n/a
49	chr8:65490710-65490760	ovcar-3	ovarian:	n/a
50	chr8:65490710-65490760	HRCEpiC	kidney:	n/a

No data

Variant related genes	Relation type
BHLHE22	TF binding region
ENSG00000254102	TF binding region
BHLHE22	CpG island
ENSG00000254102	CpG island

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16931340	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16931343	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6991989	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6994260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73237707	0.88[AFR][1000 genomes];1.00[AMR][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	nsv534001	chr8:64992196-65798776	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv972538	chr8:65489860-65495278	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65487800-65491400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr8:65487800-65491800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
3	chr8:65487800-65492800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
4	chr8:65488000-65490800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:65488400-65491200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr8:65488400-65492200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:65488600-65491000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
8	chr8:65488600-65491600	Bivalent Enhancer	Fetal Brain Male	brain
9	chr8:65489000-65491200	Bivalent Enhancer	Fetal Stomach	stomach
10	chr8:65489400-65490800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:65489400-65490800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:65489400-65490800	Bivalent Enhancer	Spleen	Spleen
13	chr8:65489400-65490800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
14	chr8:65489400-65491000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:65489400-65491400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
16	chr8:65489400-65492400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
17	chr8:65489600-65491000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:65489600-65491000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
19	chr8:65489600-65491200	Bivalent Enhancer	Brain Germinal Matrix	brain
20	chr8:65489600-65491800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
21	chr8:65489800-65491200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr8:65490000-65491000	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:65490000-65491000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
24	chr8:65490000-65491000	Bivalent Enhancer	Fetal Heart	heart
25	chr8:65490000-65491000	Bivalent Enhancer	Fetal Lung	lung
26	chr8:65490000-65491200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
27	chr8:65490200-65490800	Bivalent Enhancer	Left Ventricle	heart
28	chr8:65490200-65490800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
29	chr8:65490200-65491000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:65490200-65491000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:65490200-65491000	Bivalent Enhancer	Esophagus	oesophagus
32	chr8:65490200-65491000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
33	chr8:65490200-65491200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:65490200-65491200	Enhancers	Pancreas	Pancrea
35	chr8:65490200-65491400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
36	chr8:65490200-65491400	Bivalent Enhancer	Liver	Liver
37	chr8:65490200-65491400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr8:65490200-65491400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr8:65490200-65491400	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr8:65490200-65491400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
41	chr8:65490200-65492200	Weak transcription	Right Atrium	heart
42	chr8:65490200-65492400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
43	chr8:65490400-65490800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
44	chr8:65490400-65491200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr8:65490400-65491200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:65490400-65491400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
47	chr8:65490400-65492600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
48	chr8:65490600-65490800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:65490600-65490800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
50	chr8:65490600-65490800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell

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