Variant report

Variant	rs73689545
Chromosome Location	chr8:65488962-65488963
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr8:65487654-65489048	H1-hESC	embryonic stem cell:	n/a	n/a
2	SUZ12	chr8:65487999-65491423	NT2-D1	testis:	n/a	n/a
3	POLR2A	chr8:65488327-65489058	GM12878	blood:	n/a	n/a
4	EBF1	chr8:65487661-65489262	GM12878	blood:	n/a	chr8:65488021-65488030
5	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
6	NFIC	chr8:65488240-65489029	SK-N-SH	brain:	n/a	chr8:65488515-65488532 chr8:65488883-65488899 chr8:65488516-65488533 chr8:65488882-65488899 chr8:65488517-65488533
7	SUZ12	chr8:65488102-65489105	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTBP2	chr8:65488445-65489148	H1-hESC	embryonic stem cell:	n/a	n/a
9	SIN3A	chr8:65488472-65489066	H1-hESC	embryonic stem cell:	n/a	chr8:65488881-65488894

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:65488915-65488965	PANC-1	pancreas:	n/a
2	chr8:65488915-65488965	NT2-D1	testis:	n/a
3	chr8:65488915-65488965	HEEpiC	esophagus:	n/a
4	chr8:65488915-65488965	GM12892	blood:	n/a
5	chr8:65488915-65488965	BJ	skin:	n/a
6	chr8:65488915-65488965	PrEC	prostate:	n/a
7	chr8:65488915-65488965	HCF	heart:	n/a
8	chr8:65488915-65488965	HCM	heart:	n/a
9	chr8:65488915-65488965	Hela-S3	cervix:	n/a
10	chr8:65488915-65488965	AG04449	skin:	fetal
11	chr8:65488915-65488965	AG10803	skin:	n/a
12	chr8:65488915-65488965	NHDF-neo	bronchial:	n/a
13	chr8:65488915-65488965	NHBE	bronchial:	n/a
14	chr8:65488915-65488965	GM06990	blood:	n/a
15	chr8:65488915-65488965	SK-N-MC	brain:	n/a
16	chr8:65488915-65488965	AG09309	skin:	n/a
17	chr8:65488915-65488965	HPAEpiC	pulmonary alveolar:	n/a
18	chr8:65488915-65488965	PFSK-1	brain:	n/a
19	chr8:65488915-65488965	Caco-2	colon:	n/a
20	chr8:65488915-65488965	SK-N-SH	brain:	n/a
21	chr8:65488915-65488965	LNCaP	prostate:	n/a
22	chr8:65488915-65488965	HepG2	liver:	n/a
23	chr8:65488915-65488965	NB4	blood:	n/a
24	chr8:65488915-65488965	GM12878	blood:	n/a
25	chr8:65488915-65488965	HRPEpiC	eye:	n/a
26	chr8:65488915-65488965	HRE	kidney:	n/a
27	chr8:65488915-65488965	GM19239	blood:	n/a
28	chr8:65488915-65488965	NH-A	brain:	n/a
29	chr8:65488915-65488965	RPTEC	kidney:	n/a
30	chr8:65488915-65488965	ovcar-3	ovarian:	n/a
31	chr8:65488915-65488965	HUVEC	blood vessel:	n/a
32	chr8:65488915-65488965	HCPEpiC	choroid plexus:	n/a
33	chr8:65488915-65488965	ECC-1	luminal epithelium:	n/a
34	chr8:65488915-65488965	HNPCEpiC	eye:	n/a
35	chr8:65488915-65488965	AoSMC	blood vessel:	n/a
36	chr8:65488915-65488965	HIPEpiC	eye:	n/a
37	chr8:65488915-65488965	HL-60	blood:	n/a
38	chr8:65488915-65488965	Jurkat	blood:	n/a
39	chr8:65488915-65488965	K562	blood:	n/a
40	chr8:65488915-65488965	HRCEpiC	kidney:	n/a
41	chr8:65488915-65488965	GM12891	blood:	n/a
42	chr8:65488915-65488965	AG04450	lung:	fetal
43	chr8:65488915-65488965	MCF10A-Er-Src	breast:	n/a
44	chr8:65488915-65488965	ProgFib	skin:	n/a
45	chr8:65488915-65488965	T-47D	breast:	n/a
46	chr8:65488915-65488965	SKMC	muscle:	n/a
47	chr8:65488915-65488965	MCF-7	breast:	n/a
48	chr8:65488915-65488965	U87	brain:	n/a
49	chr8:65488915-65488965	BE2_C	brain:	n/a
50	chr8:65488915-65488965	CMK	blood:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CYP7B1-2	chr8:65486863-65489185	ENSG00000254102
2	lnc-CYP7B1-2	chr8:65486866-65489185	NR_015374

No data

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

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10112058	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10441560	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1376772	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1451868	0.87[ASN][1000 genomes]
rs7831241	0.86[ASN][1000 genomes]
rs7841976	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9643388	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65487800-65489000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
2	chr8:65487800-65489200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
3	chr8:65487800-65490600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
4	chr8:65487800-65491400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr8:65487800-65491800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
6	chr8:65487800-65492800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
7	chr8:65488000-65489000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
8	chr8:65488000-65489000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
9	chr8:65488000-65489000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
10	chr8:65488000-65489000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
11	chr8:65488000-65489000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
12	chr8:65488000-65489000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
13	chr8:65488000-65489200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:65488000-65489200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:65488000-65489200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:65488000-65489200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
17	chr8:65488000-65489200	Flanking Bivalent TSS/Enh	Liver	Liver
18	chr8:65488000-65489200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
19	chr8:65488000-65489200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
20	chr8:65488000-65489200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
21	chr8:65488000-65490000	Bivalent/Poised TSS	Colonic Mucosa	Colon
22	chr8:65488000-65490000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
23	chr8:65488000-65490200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
24	chr8:65488000-65490800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:65488200-65489000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
26	chr8:65488200-65489000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:65488200-65489000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:65488200-65489000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:65488200-65489000	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
30	chr8:65488200-65489000	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
31	chr8:65488200-65489000	Bivalent Enhancer	Fetal Intestine Small	intestine
32	chr8:65488200-65489000	Bivalent Enhancer	Gastric	stomach
33	chr8:65488200-65489000	Flanking Bivalent TSS/Enh	Left Ventricle	heart
34	chr8:65488200-65489000	Enhancers	Lung	lung
35	chr8:65488200-65489000	Flanking Active TSS	Ovary	ovary
36	chr8:65488200-65489000	Bivalent/Poised TSS	Psoas Muscle	Psoas
37	chr8:65488200-65489000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
38	chr8:65488200-65489000	Flanking Active TSS	Right Ventricle	heart
39	chr8:65488200-65489000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
40	chr8:65488200-65489200	Bivalent Enhancer	Spleen	Spleen
41	chr8:65488200-65489200	Bivalent Enhancer	NH-A	brain
42	chr8:65488200-65489600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
43	chr8:65488200-65490400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
44	chr8:65488400-65489000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
45	chr8:65488400-65489000	ZNF genes & repeats	Pancreas	Pancrea
46	chr8:65488400-65489200	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:65488400-65489600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
48	chr8:65488400-65490600	Active TSS	Brain Substantia Nigra	brain
49	chr8:65488400-65491200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
50	chr8:65488400-65492200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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