Variant report

Variant	rs59724810
Chromosome Location	chr8:65491243-65491244
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 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	CTBP2	chr8:65489556-65491307	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr8:65490848-65494958	H1-neurons	neurons:	n/a	n/a
5	SUZ12	chr8:65487999-65491423	NT2-D1	testis:	n/a	n/a
6	POLR2A	chr8:65491019-65491457	GM12891	blood:	n/a	n/a
7	POLR2A	chr8:65490914-65493622	H1-neurons	neurons:	n/a	n/a
8	CEBPB	chr8:65491088-65491264	H1-hESC	embryonic stem cell:	n/a	n/a
9	SUZ12	chr8:65489480-65491466	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr8:65489580-65494694	GM19193	blood:	n/a	n/a
11	POLR2A	chr8:65489464-65493494	GM12891	blood:	n/a	n/a
12	POLR2A	chr8:65490932-65491322	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:65491200-65491250	BJ	skin:	n/a
2	chr8:65491200-65491250	MCF-7	breast:	n/a
3	chr8:65491200-65491250	HAEpiC	amniotic membrane:	n/a
4	chr8:65491200-65491250	CMK	blood:	n/a
5	chr8:65491200-65491250	HRPEpiC	eye:	n/a
6	chr8:65491200-65491250	GM12878	blood:	n/a
7	chr8:65491200-65491250	PANC-1	pancreas:	n/a
8	chr8:65491200-65491250	GM12892	blood:	n/a
9	chr8:65491200-65491250	U87	brain:	n/a
10	chr8:65491200-65491250	HIPEpiC	eye:	n/a
11	chr8:65491200-65491250	HCPEpiC	choroid plexus:	n/a
12	chr8:65491200-65491250	SKMC	muscle:	n/a
13	chr8:65491200-65491250	GM12891	blood:	n/a
14	chr8:65491200-65491250	HMEC	breast:	n/a
15	chr8:65491200-65491250	SK-N-MC	brain:	n/a
16	chr8:65491200-65491250	NT2-D1	testis:	n/a
17	chr8:65491200-65491250	BE2_C	brain:	n/a
18	chr8:65491200-65491250	RPTEC	kidney:	n/a
19	chr8:65491200-65491250	A549	lung:	n/a
20	chr8:65491200-65491250	GM19239	blood:	n/a
21	chr8:65491200-65491250	SK-N-SH_RA	brain:	n/a
22	chr8:65491200-65491250	IMR90	lung:	fetal
23	chr8:65491200-65491250	PrEC	prostate:	n/a
24	chr8:65491200-65491250	HepG2	liver:	n/a
25	chr8:65491200-65491250	ECC-1	luminal epithelium:	n/a
26	chr8:65491200-65491250	HPAEpiC	pulmonary alveolar:	n/a
27	chr8:65491200-65491250	HEEpiC	esophagus:	n/a
28	chr8:65491200-65491250	ProgFib	skin:	n/a
29	chr8:65491200-65491250	Hepatocyte	liver:	n/a
30	chr8:65491200-65491250	AG10803	skin:	n/a
31	chr8:65491200-65491250	HRCEpiC	kidney:	n/a
32	chr8:65491200-65491250	NB4	blood:	n/a
33	chr8:65491200-65491250	SK-N-SH	brain:	n/a
34	chr8:65491200-65491250	LNCaP	prostate:	n/a
35	chr8:65491200-65491250	Hela-S3	cervix:	n/a
36	chr8:65491200-65491250	T-47D	breast:	n/a
37	chr8:65491200-65491250	HCT-116	colon:	n/a
38	chr8:65491200-65491250	Jurkat	blood:	n/a
39	chr8:65491200-65491250	GM06990	blood:	n/a
40	chr8:65491200-65491250	ovcar-3	ovarian:	n/a
41	chr8:65491200-65491250	K562	blood:	n/a
42	chr8:65491200-65491250	NHBE	bronchial:	n/a
43	chr8:65491200-65491250	HRE	kidney:	n/a
44	chr8:65491200-65491250	HEK293	kidney:	embryo
45	chr8:65491200-65491250	HCF	heart:	n/a
46	chr8:65491200-65491250	Caco-2	colon:	n/a
47	chr8:65491200-65491250	AG04449	skin:	fetal
48	chr8:65491200-65491250	AG09309	skin:	n/a
49	chr8:65491200-65491250	AoSMC	blood vessel:	n/a
50	chr8:65491200-65491250	MCF10A-Er-Src	breast:	n/a

No data

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

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs16931327	1.00[EUR][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:33 , 50 per page) page: 1

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	chr8:65488400-65492200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:65488600-65491600	Bivalent Enhancer	Fetal Brain Male	brain
6	chr8:65489400-65491400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
7	chr8:65489400-65492400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
8	chr8:65489600-65491800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr8:65490200-65491400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
10	chr8:65490200-65491400	Bivalent Enhancer	Liver	Liver
11	chr8:65490200-65491400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr8:65490200-65491400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr8:65490200-65491400	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr8:65490200-65491400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
15	chr8:65490200-65492200	Weak transcription	Right Atrium	heart
16	chr8:65490200-65492400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
17	chr8:65490400-65491400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
18	chr8:65490400-65492600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
19	chr8:65490800-65491400	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
20	chr8:65490800-65492800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:65490800-65495000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
22	chr8:65491000-65491400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr8:65491000-65491400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:65491000-65491400	Bivalent/Poised TSS	Fetal Brain Female	brain
25	chr8:65491200-65491400	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:65491200-65491400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
27	chr8:65491200-65491400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:65491200-65491400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:65491200-65491600	Bivalent Enhancer	Brain Anterior Caudate	brain
30	chr8:65491200-65491800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
31	chr8:65491200-65491800	Bivalent/Poised TSS	GM12878-XiMat	blood
32	chr8:65491200-65492200	Weak transcription	Pancreas	Pancrea
33	chr8:65491200-65492400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain

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