Variant report

Variant	rs73680345
Chromosome Location	chr8:54789232-54789233
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr8:54789067-54789538	PFSK-1	brain:	n/a	chr8:54789185-54789194
2	CTBP2	chr8:54789085-54790768	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD2	chr8:54789178-54789350	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD1	chr8:54789198-54789763	H1-hESC	embryonic stem cell:	n/a	n/a
5	SETDB1	chr8:54788805-54789490	U2OS	brain:	n/a	n/a
6	SUZ12	chr8:54788529-54792712	NT2-D1	testis:	n/a	n/a
7	ZNF143	chr8:54789220-54789482	H1-hESC	embryonic stem cell:	n/a	n/a
8	ZBTB7A	chr8:54789201-54790879	ECC-1	luminal epithelium:	n/a	chr8:54790686-54790697
9	SIN3A	chr8:54789048-54790901	H1-hESC	embryonic stem cell:	n/a	chr8:54790562-54790575 chr8:54790165-54790174 chr8:54790556-54790570 chr8:54789846-54789857
10	SUZ12	chr8:54788938-54790834	H1-hESC	embryonic stem cell:	n/a	n/a
11	E2F6	chr8:54789196-54790837	H1-hESC	embryonic stem cell:	n/a	chr8:54790544-54790555 chr8:54789871-54789883 chr8:54790658-54790670

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:54789207-54789257	ECC-1	luminal epithelium:	n/a
2	chr8:54789207-54789257	NT2-D1	testis:	n/a
3	chr8:54789207-54789257	NH-A	brain:	n/a
4	chr8:54789207-54789257	ovcar-3	ovarian:	n/a
5	chr8:54789207-54789257	NHDF-neo	bronchial:	n/a
6	chr8:54789207-54789257	HEEpiC	esophagus:	n/a
7	chr8:54789207-54789257	NHBE	bronchial:	n/a
8	chr8:54789207-54789257	HEK293	kidney:	embryo
9	chr8:54789207-54789257	HepG2	liver:	n/a
10	chr8:54789207-54789257	HPAEpiC	pulmonary alveolar:	n/a
11	chr8:54789207-54789257	BE2_C	brain:	n/a
12	chr8:54789207-54789257	AG09309	skin:	n/a
13	chr8:54789207-54789257	ProgFib	skin:	n/a
14	chr8:54789207-54789257	U87	brain:	n/a
15	chr8:54789207-54789257	SAEC	small airway:	n/a
16	chr8:54789207-54789257	GM19239	blood:	n/a
17	chr8:54789207-54789257	HCT-116	colon:	n/a
18	chr8:54789207-54789257	BJ	skin:	n/a
19	chr8:54789207-54789257	Jurkat	blood:	n/a
20	chr8:54789207-54789257	SK-N-SH_RA	brain:	n/a
21	chr8:54789207-54789257	HCPEpiC	choroid plexus:	n/a
22	chr8:54789207-54789257	AG09319	gingival:	n/a
23	chr8:54789207-54789257	RPTEC	kidney:	n/a
24	chr8:54789207-54789257	AoSMC	blood vessel:	n/a
25	chr8:54789207-54789257	HRPEpiC	eye:	n/a
26	chr8:54789207-54789257	HNPCEpiC	eye:	n/a
27	chr8:54789207-54789257	CMK	blood:	n/a
28	chr8:54789207-54789257	HL-60	blood:	n/a
29	chr8:54789207-54789257	PFSK-1	brain:	n/a
30	chr8:54789207-54789257	A549	lung:	n/a
31	chr8:54789207-54789257	Caco-2	colon:	n/a
32	chr8:54789207-54789257	LNCaP	prostate:	n/a
33	chr8:54789207-54789257	HCF	heart:	n/a
34	chr8:54789207-54789257	IMR90	lung:	fetal
35	chr8:54789207-54789257	T-47D	breast:	n/a
36	chr8:54789207-54789257	HRE	kidney:	n/a
37	chr8:54789207-54789257	AG04450	lung:	fetal
38	chr8:54789207-54789257	H1-hESC	embryonic stem cell:	embryo
39	chr8:54789207-54789257	SK-N-SH	brain:	n/a
40	chr8:54789207-54789257	HCM	heart:	n/a
41	chr8:54789207-54789257	GM12892	blood:	n/a
42	chr8:54789207-54789257	Hepatocyte	liver:	n/a
43	chr8:54789207-54789257	MCF10A-Er-Src	breast:	n/a
44	chr8:54789207-54789257	HRCEpiC	kidney:	n/a
45	chr8:54789207-54789257	GM06990	blood:	n/a
46	chr8:54789207-54789257	HMEC	breast:	n/a
47	chr8:54789207-54789257	AG04449	skin:	fetal
48	chr8:54789207-54789257	SKMC	muscle:	n/a
49	chr8:54789207-54789257	SK-N-MC	brain:	n/a
50	chr8:54789207-54789257	GM12878	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:54788748..54791564-chr8:54792392..54794472,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272457	TF binding region
RGS20	TF binding region
RGS20	CpG island
ENSG00000272457	CpG island
ENSG00000147509	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11990964	1.00[EUR][1000 genomes]
rs57594047	1.00[EUR][1000 genomes]
rs57924266	1.00[EUR][1000 genomes]
rs59128603	1.00[EUR][1000 genomes]
rs60437052	1.00[EUR][1000 genomes]
rs73680334	1.00[EUR][1000 genomes]
rs73680336	1.00[EUR][1000 genomes]
rs73680347	1.00[EUR][1000 genomes]
rs73680348	1.00[EUR][1000 genomes]
rs73680349	1.00[EUR][1000 genomes]
rs73680350	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	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54785400-54789400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:54785600-54791400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:54788600-54791600	Weak transcription	A549	lung
4	chr8:54788800-54789400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
5	chr8:54788800-54789600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
6	chr8:54788800-54789800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
7	chr8:54788800-54790200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr8:54788800-54790600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:54789000-54789400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:54789000-54789400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:54789000-54789400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
12	chr8:54789000-54789400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:54789000-54789400	Bivalent Enhancer	Adipose Nuclei	Adipose
14	chr8:54789000-54789400	Bivalent Enhancer	Brain Hippocampus Middle	brain
15	chr8:54789000-54789400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
16	chr8:54789000-54789400	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chr8:54789000-54789400	Bivalent/Poised TSS	Right Atrium	heart
18	chr8:54789000-54789400	Bivalent Enhancer	NHLF	lung
19	chr8:54789000-54789600	Bivalent Enhancer	Fetal Brain Male	brain
20	chr8:54789000-54789600	Enhancers	Right Ventricle	heart
21	chr8:54789000-54789800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
22	chr8:54789000-54789800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
23	chr8:54789000-54790000	Bivalent Enhancer	Colon Smooth Muscle	Colon
24	chr8:54789000-54790000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr8:54789000-54790000	Bivalent Enhancer	HUVEC	blood vessel
26	chr8:54789000-54790200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr8:54789000-54790200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:54789000-54790800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
29	chr8:54789200-54789400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
30	chr8:54789200-54789400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:54789200-54789400	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:54789200-54789400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
33	chr8:54789200-54789400	Bivalent Enhancer	NHEK	skin
34	chr8:54789200-54789600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:54789200-54789600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:54789200-54789600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:54789200-54789600	Bivalent Enhancer	Aorta	Aorta
38	chr8:54789200-54789600	Active TSS	Brain Anterior Caudate	brain
39	chr8:54789200-54789600	Bivalent Enhancer	Psoas Muscle	Psoas
40	chr8:54789200-54789600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
41	chr8:54789200-54789800	Enhancers	Pancreas	Pancrea
42	chr8:54789200-54789800	Flanking Bivalent TSS/Enh	NH-A	brain
43	chr8:54789200-54790000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr8:54789200-54790200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr8:54789200-54790400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
46	chr8:54789200-54790400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:54789200-54790600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr8:54789200-54790600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
49	chr8:54789200-54790600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:54789200-54790600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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