Variant report

Variant	rs73680350
Chromosome Location	chr8:54792463-54792464
allele	A/T
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	TAF1	chr8:54792329-54794064	A549	lung:	n/a	n/a
2	POLR2A	chr8:54792121-54794362	Hela-S3	cervix:	n/a	n/a
3	RCOR1	chr8:54792324-54794370	Hela-S3	cervix:	n/a	n/a
4	SIN3AK20	chr8:54792432-54793043	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr8:54792349-54792627	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr8:54792233-54793889	HEK293	kidney:	n/a	n/a
7	KAP1	chr8:54792148-54792832	HEK293	kidney:	n/a	n/a
8	SMARCB1	chr8:54792173-54794704	Hela-S3	cervix:	n/a	n/a
9	HCFC1	chr8:54791962-54794202	Hela-S3	cervix:	n/a	n/a
10	GABPA	chr8:54792375-54792703	A549	lung:	n/a	n/a
11	E2F6	chr8:54792241-54794547	A549	lung:	n/a	chr8:54793415-54793424 chr8:54794462-54794474 chr8:54792932-54792944 chr8:54793498-54793505 chr8:54794337-54794347 chr8:54793415-54793427 chr8:54794476-54794488
12	MAX	chr8:54792260-54794289	K562	blood:	n/a	chr8:54793313-54793322 chr8:54793413-54793423 chr8:54792698-54792705 chr8:54794208-54794217
13	MAZ	chr8:54792034-54794351	Hela-S3	cervix:	n/a	chr8:54793313-54793322 chr8:54793413-54793423 chr8:54792698-54792705 chr8:54794208-54794217
14	CREB1	chr8:54792272-54792809	GM12878	blood:	n/a	n/a
15	POLR2A	chr8:54792211-54794479	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr8:54792360-54792510	HMEC	breast:	n/a	n/a
17	POLR2A	chr8:54792355-54792835	SK-N-SH	brain:	n/a	n/a
18	RCOR1	chr8:54792365-54792837	K562	blood:	n/a	n/a
19	POLR2A	chr8:54792435-54792599	MCF-7	breast:	n/a	n/a
20	EGR1	chr8:54792342-54792661	K562	blood:	n/a	chr8:54792477-54792491
21	MAX	chr8:54792346-54794026	HepG2	liver:	n/a	chr8:54793313-54793322 chr8:54793413-54793423 chr8:54792698-54792705
22	ZNF143	chr8:54792410-54792730	GM12878	blood:	n/a	chr8:54792687-54792705
23	MAX	chr8:54792315-54794006	NB4	blood:	n/a	chr8:54793313-54793322 chr8:54793413-54793423 chr8:54792698-54792705
24	CTCF	chr8:54792440-54792590	HCM	heart:	n/a	n/a
25	TCF12	chr8:54792161-54794891	A549	lung:	n/a	n/a
26	HEY1	chr8:54792435-54792713	K562	blood:	n/a	n/a
27	ATF1	chr8:54792417-54792706	K562	blood:	n/a	n/a
28	MAX	chr8:54792287-54794502	ECC-1	luminal epithelium:	n/a	chr8:54793313-54793322 chr8:54793413-54793423 chr8:54792698-54792705 chr8:54794208-54794217
29	POLR2A	chr8:54792237-54793903	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr8:54792412-54793717	K562	blood:	n/a	n/a
31	ATF2	chr8:54792322-54792805	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr8:54792281-54793886	A549	lung:	n/a	n/a
33	MAZ	chr8:54792322-54794782	K562	blood:	n/a	chr8:54793313-54793322 chr8:54793413-54793423 chr8:54792698-54792705 chr8:54794208-54794217
34	CREB1	chr8:54792313-54793922	HepG2	liver:	n/a	n/a
35	REST	chr8:54792351-54792773	A549	lung:	n/a	chr8:54792507-54792520
36	ZNF263	chr8:54792273-54792881	HEK293-T-REx	kidney:	n/a	n/a
37	SIN3A	chr8:54791311-54795214	H1-hESC	embryonic stem cell:	n/a	chr8:54792399-54792409 chr8:54795023-54795036 chr8:54793768-54793779 chr8:54794395-54794408
38	CHD2	chr8:54792251-54792652	GM12878	blood:	n/a	n/a
39	MAX	chr8:54792243-54794073	H1-hESC	embryonic stem cell:	n/a	chr8:54793313-54793322 chr8:54793413-54793423 chr8:54792698-54792705
40	TBP	chr8:54792379-54792727	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr8:54792441-54792810	K562	blood:	n/a	n/a
42	POLR2A	chr8:54792364-54795602	GM12878	blood:	n/a	n/a
43	SMC3	chr8:54792247-54792805	Hela-S3	cervix:	n/a	chr8:54792748-54792758
44	POLR2A	chr8:54792213-54792885	HUVEC	blood vessel:	n/a	n/a
45	STAT3	chr8:54792415-54792483	MCF10A-Er-Src	breast:	n/a	n/a
46	MAX	chr8:54791933-54792797	H1-hESC	embryonic stem cell:	n/a	chr8:54792698-54792705
47	MAX	chr8:54792383-54793949	GM12878	blood:	n/a	chr8:54793313-54793322 chr8:54793413-54793423 chr8:54792698-54792705
48	MYC	chr8:54792446-54792494	MCF-7	breast:	n/a	n/a
49	EGR1	chr8:54792412-54792584	GM12878	blood:	n/a	chr8:54792477-54792491
50	POLR2A	chr8:54792251-54794437	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:54792419-54792469	HCF	heart:	n/a
2	chr8:54792419-54792469	HIPEpiC	eye:	n/a
3	chr8:54792419-54792469	BE2_C	brain:	n/a
4	chr8:54792419-54792469	U87	brain:	n/a
5	chr8:54792419-54792469	HPAEpiC	pulmonary alveolar:	n/a
6	chr8:54792419-54792469	HEK293	kidney:	embryo
7	chr8:54792419-54792469	GM19239	blood:	n/a
8	chr8:54792419-54792469	MCF-7	breast:	n/a
9	chr8:54792419-54792469	AG04450	lung:	fetal
10	chr8:54792419-54792469	PrEC	prostate:	n/a
11	chr8:54792419-54792469	SK-N-MC	brain:	n/a
12	chr8:54792419-54792469	GM12891	blood:	n/a
13	chr8:54792419-54792469	AoSMC	blood vessel:	n/a
14	chr8:54792419-54792469	AG09319	gingival:	n/a
15	chr8:54792419-54792469	IMR90	lung:	fetal
16	chr8:54792419-54792469	HUVEC	blood vessel:	n/a
17	chr8:54792419-54792469	NT2-D1	testis:	n/a
18	chr8:54792419-54792469	HEEpiC	esophagus:	n/a
19	chr8:54792419-54792469	MCF10A-Er-Src	breast:	n/a
20	chr8:54792419-54792469	K562	blood:	n/a
21	chr8:54792419-54792469	SAEC	small airway:	n/a
22	chr8:54792419-54792469	LNCaP	prostate:	n/a
23	chr8:54792419-54792469	AG09309	skin:	n/a
24	chr8:54792419-54792469	H1-hESC	embryonic stem cell:	embryo
25	chr8:54792419-54792469	HMEC	breast:	n/a
26	chr8:54792419-54792469	HRPEpiC	eye:	n/a
27	chr8:54792419-54792469	HCT-116	colon:	n/a
28	chr8:54792419-54792469	RPTEC	kidney:	n/a
29	chr8:54792419-54792469	AG10803	skin:	n/a
30	chr8:54792419-54792469	BJ	skin:	n/a
31	chr8:54792419-54792469	HL-60	blood:	n/a
32	chr8:54792419-54792469	PFSK-1	brain:	n/a
33	chr8:54792419-54792469	ProgFib	skin:	n/a
34	chr8:54792419-54792469	HNPCEpiC	eye:	n/a
35	chr8:54792419-54792469	NHDF-neo	bronchial:	n/a
36	chr8:54792419-54792469	Hela-S3	cervix:	n/a
37	chr8:54792419-54792469	HRE	kidney:	n/a
38	chr8:54792419-54792469	Jurkat	blood:	n/a
39	chr8:54792419-54792469	NH-A	brain:	n/a
40	chr8:54792419-54792469	HRCEpiC	kidney:	n/a
41	chr8:54792419-54792469	ovcar-3	ovarian:	n/a
42	chr8:54792419-54792469	PANC-1	pancreas:	n/a
43	chr8:54792419-54792469	GM12878	blood:	n/a
44	chr8:54792419-54792469	HCM	heart:	n/a
45	chr8:54792419-54792469	A549	lung:	n/a
46	chr8:54792419-54792469	Caco-2	colon:	n/a
47	chr8:54792419-54792469	AG04449	skin:	fetal
48	chr8:54792419-54792469	SKMC	muscle:	n/a
49	chr8:54792419-54792469	T-47D	breast:	n/a
50	chr8:54792419-54792469	NHBE	bronchial:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:54791937..54794536-chr8:55012642..55014305,2	K562	blood:
2	chr8:54788748..54791564-chr8:54792392..54794472,3	K562	blood:
3	chr8:54755454..54757105-chr8:54791568..54794141,2	K562	blood:

Variant related genes	Relation type
RGS20	TF binding region
ENSG00000272457	TF binding region
RGS20	CpG island
ENSG00000272457	CpG island
ENSG00000272457	Chromatin interaction
ENSG00000047249	Chromatin interaction
ENSG00000120992	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11990964	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57594047	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57924266	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58446058	0.88[AFR][1000 genomes]
rs59128603	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60296248	1.00[AMR][1000 genomes]
rs60437052	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60515635	1.00[AMR][1000 genomes]
rs6998009	0.83[AFR][1000 genomes]
rs73680309	0.82[AFR][1000 genomes]
rs73680313	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73680334	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680336	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680345	1.00[EUR][1000 genomes]
rs73680347	1.00[EUR][1000 genomes]
rs73680348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73682538	0.83[AFR][1000 genomes]
rs73682553	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54790800-54792600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
2	chr8:54791200-54793000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:54791200-54795600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr8:54791400-54793600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
5	chr8:54791600-54793600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:54791600-54794000	Bivalent/Poised TSS	Fetal Brain Female	brain
7	chr8:54791600-54795000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr8:54791600-54795200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:54791600-54795200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr8:54791600-54795200	Active TSS	A549	lung
11	chr8:54791600-54795200	Active TSS	NHDF-Ad	bronchial
12	chr8:54791800-54792600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
13	chr8:54791800-54792800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
14	chr8:54791800-54793400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
15	chr8:54791800-54793400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:54791800-54793800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
17	chr8:54791800-54794000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
18	chr8:54791800-54794600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
19	chr8:54791800-54794800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr8:54791800-54795000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
21	chr8:54791800-54795200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:54791800-54795200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr8:54791800-54795200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr8:54791800-54795200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
25	chr8:54791800-54795400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
26	chr8:54791800-54795600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
27	chr8:54792000-54792600	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:54792000-54792600	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
29	chr8:54792000-54792600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:54792000-54792600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:54792000-54792600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
32	chr8:54792000-54792600	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
33	chr8:54792000-54792800	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 1	blood
34	chr8:54792000-54792800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
35	chr8:54792000-54792800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:54792000-54792800	Flanking Active TSS	Ovary	ovary
37	chr8:54792000-54792800	Bivalent Enhancer	Small Intestine	intestine
38	chr8:54792000-54792800	Flanking Active TSS	HMEC	breast
39	chr8:54792000-54792800	Flanking Active TSS	NHEK	skin
40	chr8:54792000-54793000	Flanking Bivalent TSS/Enh	Placenta Amnion	Placenta Amnion
41	chr8:54792000-54793000	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
42	chr8:54792000-54793000	Flanking Bivalent TSS/Enh	Osteobl	bone
43	chr8:54792000-54793200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
44	chr8:54792000-54793400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
45	chr8:54792000-54793800	Bivalent/Poised TSS	Thymus	Thymus
46	chr8:54792000-54794000	Bivalent Enhancer	Fetal Brain Male	brain
47	chr8:54792000-54794800	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr8:54792000-54795000	Active TSS	Right Atrium	heart
49	chr8:54792000-54795000	Flanking Active TSS	Right Ventricle	heart
50	chr8:54792000-54795000	Active TSS	Hela-S3	cervix

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