Variant report

Variant	rs73271212
Chromosome Location	chr8:62626583-62626584
allele	A/C
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	CCNT2	chr8:62626480-62627597	K562	blood:	n/a	chr8:62627212-62627221 chr8:62627293-62627302
2	ETS1	chr8:62626308-62627990	A549	lung:	n/a	chr8:62627212-62627223 chr8:62627008-62627019
3	HA-E2F1	chr8:62626394-62627911	MCF-7	breast:	n/a	chr8:62627212-62627221 chr8:62626720-62626729 chr8:62627013-62627022 chr8:62627011-62627021 chr8:62626941-62626951
4	TAF1	chr8:62626464-62627686	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr8:62626476-62627625	A549	lung:	n/a	n/a
6	MAZ	chr8:62626372-62627509	GM12878	blood:	n/a	chr8:62627481-62627497 chr8:62627481-62627490 chr8:62627478-62627488 chr8:62627478-62627489
7	POLR2A	chr8:62626439-62627667	K562	blood:	n/a	n/a
8	POLR2A	chr8:62624043-62628324	U87	brain:	n/a	n/a
9	MYC	chr8:62626581-62627775	MCF10A-Er-Src	breast:	n/a	chr8:62627481-62627497 chr8:62627481-62627490 chr8:62627478-62627488 chr8:62627478-62627489
10	POLR2A	chr8:62626482-62627906	K562	blood:	n/a	n/a
11	MYC	chr8:62626478-62627761	K562	blood:	n/a	chr8:62627481-62627497 chr8:62627481-62627490 chr8:62627478-62627488 chr8:62627478-62627489
12	POLR2A	chr8:62620749-62628224	U87	brain:	n/a	n/a
13	POLR2A	chr8:62626575-62627610	GM18505	blood:	n/a	n/a
14	SIN3A	chr8:62626381-62627797	H1-hESC	embryonic stem cell:	n/a	chr8:62627082-62627091 chr8:62626562-62626573 chr8:62627110-62627121
15	BCL3	chr8:62622937-62626728	A549	lung:	n/a	chr8:62622975-62622984 chr8:62623067-62623076 chr8:62626676-62626685
16	POLR2A	chr8:62626392-62627616	A549	lung:	n/a	n/a
17	POLR2A	chr8:62626343-62628156	K562	blood:	n/a	n/a
18	POLR2A	chr8:62621167-62627994	A549	lung:	n/a	n/a
19	EP300	chr8:62626083-62626605	K562	blood:	n/a	chr8:62626370-62626379
20	CHD2	chr8:62625933-62627986	Hela-S3	cervix:	n/a	chr8:62627291-62627301 chr8:62627210-62627220 chr8:62626642-62626652 chr8:62627205-62627215
21	POLR2A	chr8:62626363-62628080	ProgFib	skin:	n/a	n/a
22	RCOR1	chr8:62626500-62627078	K562	blood:	n/a	n/a
23	UBTF	chr8:62626276-62627553	K562	blood:	n/a	n/a
24	POLR2A	chr8:62626482-62627681	NB4	blood:	n/a	n/a
25	TAF1	chr8:62626553-62627577	K562	blood:	n/a	n/a
26	POLR2A	chr8:62626525-62627760	H1-neurons	neurons:	n/a	n/a
27	MAZ	chr8:62625218-62628133	IMR90	lung:	n/a	chr8:62627889-62627896 chr8:62627481-62627497 chr8:62626030-62626046 chr8:62627481-62627490 chr8:62627887-62627898 chr8:62627478-62627488 chr8:62627478-62627489 chr8:62627888-62627897 chr8:62627886-62627899 chr8:62627887-62627898 chr8:62627888-62627897 chr8:62627887-62627898 chr8:62627889-62627898 chr8:62627887-62627897
28	NFIC	chr8:62626230-62626787	ECC-1	luminal epithelium:	n/a	n/a
29	TCF7L2	chr8:62626568-62627657	HCT-116	colon:	n/a	n/a
30	POLR2A	chr8:62626478-62627983	GM15510	blood:	n/a	n/a
31	BACH1	chr8:62626425-62627624	H1-hESC	embryonic stem cell:	n/a	n/a
32	SMC3	chr8:62624603-62628007	Hela-S3	cervix:	n/a	n/a
33	REST	chr8:62626282-62626630	A549	lung:	n/a	n/a
34	POLR2A	chr8:62626462-62627632	HL-60	blood:	n/a	n/a
35	MXI1	chr8:62625593-62628121	SK-N-SH	brain:	n/a	chr8:62627478-62627487 chr8:62627889-62627898
36	POLR2A	chr8:62626397-62627897	HEK293	kidney:	n/a	n/a
37	TCF12	chr8:62625213-62627783	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr8:62626323-62627660	A549	lung:	n/a	n/a
39	SMARCB1	chr8:62626293-62627599	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr8:62626466-62628472	PANC-1	pancreas:	n/a	n/a
41	SIN3AK20	chr8:62626322-62627565	PANC-1	pancreas:	n/a	n/a
42	MAX	chr8:62626352-62627860	HepG2	liver:	n/a	chr8:62627481-62627497 chr8:62627481-62627490 chr8:62627478-62627488 chr8:62627478-62627489
43	EP300	chr8:62625539-62626800	SK-N-SH	brain:	n/a	chr8:62626370-62626379 chr8:62625613-62625627
44	CHD1	chr8:62626011-62626702	H1-hESC	embryonic stem cell:	n/a	chr8:62626642-62626652
45	GTF2F1	chr8:62626440-62626630	Hela-S3	cervix:	n/a	n/a
46	MAX	chr8:62626370-62628077	K562	blood:	n/a	chr8:62627889-62627896 chr8:62627481-62627497 chr8:62627481-62627490 chr8:62627887-62627898 chr8:62627478-62627488 chr8:62627478-62627489 chr8:62627888-62627897 chr8:62627886-62627899 chr8:62627887-62627898 chr8:62627888-62627897 chr8:62627887-62627898 chr8:62627889-62627898 chr8:62627887-62627897
47	POLR2A	chr8:62626477-62627708	GM19099	blood:	n/a	n/a
48	REST	chr8:62626347-62628190	H1-neurons	neurons:	n/a	chr8:62627068-62627088 chr8:62627041-62627059 chr8:62627069-62627087 chr8:62627082-62627092 chr8:62627080-62627094
49	TCF12	chr8:62622969-62628409	A549	lung:	n/a	n/a
50	POLR2A	chr8:62626445-62627613	GM19193	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:62562880..62565070-chr8:62625933..62628017,2	K562	blood:
2	chr8:62560140..62569925-chr8:62619825..62628019,19	K562	blood:
3	chr8:62625715..62628343-chr8:63949746..63952148,2	MCF-7	breast:
4	chr8:62618042..62628934-chr8:62666240..62683608,38	K562	blood:
5	chr8:62623830..62626750-chr8:62657804..62660228,2	K562	blood:
6	chr8:62543072..62544840-chr8:62625541..62627950,2	K562	blood:
7	chr8:62625349..62627076-chr8:62628888..62631285,2	MCF-7	breast:
8	chr8:62608231..62611173-chr8:62624445..62626992,3	K562	blood:
9	chr8:62550051..62552995-chr8:62624567..62627548,2	MCF-7	breast:
10	chr8:62625464..62627946-chr8:62695567..62698459,4	MCF-7	breast:
11	chr8:62590920..62593781-chr8:62625568..62627166,2	MCF-7	breast:
12	chr8:62624564..62626799-chr8:62720557..62722596,2	K562	blood:
13	chr8:62597423..62607954-chr8:62618870..62628159,21	K562	blood:

Variant related genes	Relation type
MIR4470	TF binding region
ENSG00000198363	Chromatin interaction
ENSG00000254119	Chromatin interaction
ENSG00000137563	Chromatin interaction
ENSG00000251127	Chromatin interaction
ENSG00000222898	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10095911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10107157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13439225	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28587878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28793942	0.93[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs3195249	0.95[EUR][1000 genomes]
rs73269297	0.93[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73269300	0.87[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73269302	0.91[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73271213	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 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	chr8:62622400-62627800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:62622800-62627600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:62623000-62627800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:62623200-62627400	Active TSS	NHLF	lung
5	chr8:62623200-62627600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:62623200-62627600	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr8:62623600-62627600	Active TSS	Hela-S3	cervix
8	chr8:62623600-62627600	Active TSS	NHDF-Ad	bronchial
9	chr8:62623600-62627800	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr8:62623800-62627400	Active TSS	K562	blood
11	chr8:62624000-62627200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:62624000-62627400	Active TSS	HMEC	breast
13	chr8:62624000-62627600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:62624000-62627800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr8:62624200-62626600	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr8:62624200-62627600	Active TSS	HSMMtube	muscle
17	chr8:62624400-62627400	Active TSS	Muscle Satellite Cultured Cells	--
18	chr8:62624400-62627400	Active TSS	HSMM	muscle
19	chr8:62624400-62627600	Active TSS	Brain Cingulate Gyrus	brain
20	chr8:62624400-62627600	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr8:62624400-62627600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:62624400-62627600	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr8:62624400-62627600	Active TSS	Fetal Intestine Large	intestine
24	chr8:62624400-62627600	Active TSS	Fetal Stomach	stomach
25	chr8:62624400-62627600	Active TSS	Osteobl	bone
26	chr8:62624600-62627400	Active TSS	Fetal Thymus	thymus
27	chr8:62624600-62627600	Active TSS	H1 Cell Line	embryonic stem cell
28	chr8:62624600-62627600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr8:62624600-62627600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr8:62624600-62627600	Active TSS	Brain Angular Gyrus	brain
31	chr8:62624600-62627600	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr8:62624600-62627800	Active TSS	Aorta	Aorta
33	chr8:62624600-62627800	Active TSS	Colonic Mucosa	Colon
34	chr8:62624600-62627800	Active TSS	Placenta	Placenta
35	chr8:62624600-62627800	Active TSS	Left Ventricle	heart
36	chr8:62624600-62627800	Active TSS	Ovary	ovary
37	chr8:62624600-62627800	Active TSS	Psoas Muscle	Psoas
38	chr8:62624600-62627800	Active TSS	Right Atrium	heart
39	chr8:62624600-62628000	Active TSS	Right Ventricle	heart
40	chr8:62624800-62627400	Active TSS	GM12878-XiMat	blood
41	chr8:62624800-62627600	Active TSS	Stomach Mucosa	stomach
42	chr8:62624800-62628000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:62625000-62626600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr8:62625000-62627400	Active TSS	NH-A	brain
45	chr8:62625000-62627600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:62625200-62627400	Active TSS	Stomach Smooth Muscle	stomach
47	chr8:62625200-62627600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:62625200-62627600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:62625200-62627600	Active TSS	Brain Anterior Caudate	brain
50	chr8:62625200-62627600	Active TSS	Brain Substantia Nigra	brain

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