Variant report

Variant	rs73629108
Chromosome Location	chr8:42912578-42912579
allele	A/C/G/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	CEBPB	chr8:42912477-42912674	HepG2	liver:	n/a	chr8:42912587-42912598 chr8:42912586-42912597 chr8:42912586-42912599
2	HCFC1	chr8:42912541-42912709	K562	blood:	n/a	n/a
3	POLR2A	chr8:42910712-42912758	Hela-S3	cervix:	n/a	n/a
4	TBL1XR1	chr8:42912302-42912808	K562	blood:	n/a	n/a
5	FOS	chr8:42912453-42912788	MCF10A-Er-Src	breast:	n/a	chr8:42912632-42912642 chr8:42912632-42912642
6	MAX	chr8:42912437-42912648	H1-hESC	embryonic stem cell:	n/a	chr8:42912607-42912616
7	MXI1	chr8:42911066-42912708	HepG2	liver:	n/a	n/a
8	CEBPB	chr8:42912339-42912877	MCF-7	breast:	n/a	chr8:42912587-42912598 chr8:42912586-42912597 chr8:42912586-42912599
9	USF2	chr8:42912116-42912820	Hela-S3	cervix:	n/a	chr8:42912601-42912622 chr8:42912608-42912617 chr8:42912607-42912616 chr8:42912607-42912616 chr8:42912606-42912617 chr8:42912605-42912618
10	RELA	chr8:42911078-42912789	GM15510	blood:	n/a	n/a
11	USF2	chr8:42912430-42912746	H1-hESC	embryonic stem cell:	n/a	chr8:42912601-42912622 chr8:42912608-42912617 chr8:42912607-42912616 chr8:42912607-42912616 chr8:42912606-42912617 chr8:42912605-42912618
12	USF2	chr8:42912454-42912744	HepG2	liver:	n/a	chr8:42912601-42912622 chr8:42912608-42912617 chr8:42912607-42912616 chr8:42912607-42912616 chr8:42912606-42912617 chr8:42912605-42912618
13	USF1	chr8:42912413-42912777	A549	lung:	n/a	chr8:42912606-42912617 chr8:42912601-42912622 chr8:42912608-42912617 chr8:42912607-42912616 chr8:42912607-42912616 chr8:42912605-42912618
14	MXI1	chr8:42912516-42912754	K562	blood:	n/a	n/a
15	FOS	chr8:42912441-42912778	MCF10A-Er-Src	breast:	n/a	chr8:42912632-42912642 chr8:42912632-42912642
16	MYC	chr8:42912366-42912766	MCF10A-Er-Src	breast:	n/a	chr8:42912607-42912616
17	GTF2F1	chr8:42911981-42912765	Hela-S3	cervix:	n/a	n/a
18	MYC	chr8:42912429-42912767	MCF10A-Er-Src	breast:	n/a	chr8:42912607-42912616
19	HDAC2	chr8:42912507-42912783	HepG2	liver:	n/a	n/a
20	CEBPB	chr8:42912380-42912781	K562	blood:	n/a	chr8:42912587-42912598 chr8:42912586-42912597 chr8:42912586-42912599
21	TBL1XR1	chr8:42912235-42912826	K562	blood:	n/a	n/a
22	BHLHE40	chr8:42911125-42912833	GM12878	blood:	n/a	chr8:42911827-42911843 chr8:42912601-42912622 chr8:42912608-42912617 chr8:42912607-42912616 chr8:42912607-42912616 chr8:42911470-42911486 chr8:42912605-42912618
23	USF1	chr8:42912390-42912775	A549	lung:	n/a	chr8:42912606-42912617 chr8:42912601-42912622 chr8:42912608-42912617 chr8:42912607-42912616 chr8:42912607-42912616 chr8:42912605-42912618
24	POLR2A	chr8:42910708-42912832	GM18505	blood:	n/a	n/a
25	POLR2A	chr8:42912530-42912828	HCT-116	colon:	n/a	n/a
26	CEBPB	chr8:42912455-42912783	A549	lung:	n/a	chr8:42912587-42912598 chr8:42912586-42912597 chr8:42912586-42912599
27	POLR2A	chr8:42910397-42912652	K562	blood:	n/a	n/a
28	USF2	chr8:42912386-42912803	GM12878	blood:	n/a	chr8:42912601-42912622 chr8:42912608-42912617 chr8:42912607-42912616 chr8:42912607-42912616 chr8:42912606-42912617 chr8:42912605-42912618
29	BHLHE40	chr8:42910862-42912831	K562	blood:	n/a	chr8:42911827-42911843 chr8:42912601-42912622 chr8:42912608-42912617 chr8:42912607-42912616 chr8:42912607-42912616 chr8:42911470-42911486 chr8:42912605-42912618
30	MAX	chr8:42911170-42912728	A549	lung:	n/a	chr8:42911803-42911812 chr8:42912607-42912616
31	E2F4	chr8:42912535-42912726	MCF10A-Er-Src	breast:	n/a	n/a
32	RCOR1	chr8:42910823-42912802	K562	blood:	n/a	n/a
33	WRNIP1	chr8:42911751-42912841	GM12878	blood:	n/a	n/a
34	CEBPB	chr8:42912403-42912816	HepG2	liver:	n/a	chr8:42912587-42912598 chr8:42912586-42912597 chr8:42912586-42912599
35	POLR2A	chr8:42910635-42912727	GM12892	blood:	n/a	n/a
36	EBF1	chr8:42912214-42912646	GM12878	blood:	n/a	n/a
37	MAX	chr8:42912534-42912700	K562	blood:	n/a	chr8:42912607-42912616
38	POLR2A	chr8:42912492-42912809	GM12891	blood:	n/a	n/a
39	TEAD4	chr8:42912257-42912811	K562	blood:	n/a	n/a
40	POLR2A	chr8:42910145-42912896	SK-N-MC	brain:	n/a	n/a
41	CEBPB	chr8:42912176-42913102	K562	blood:	n/a	chr8:42912587-42912598 chr8:42912586-42912597 chr8:42912586-42912599
42	USF1	chr8:42912394-42912850	ECC-1	luminal epithelium:	n/a	chr8:42912606-42912617 chr8:42912601-42912622 chr8:42912608-42912617 chr8:42912607-42912616 chr8:42912607-42912616 chr8:42912605-42912618
43	POLR2A	chr8:42912534-42912749	GM12878	blood:	n/a	n/a
44	PML	chr8:42910517-42912894	GM12878	blood:	n/a	n/a
45	CEBPB	chr8:42912379-42912818	ECC-1	luminal epithelium:	n/a	chr8:42912587-42912598 chr8:42912586-42912597 chr8:42912586-42912599
46	POLR2A	chr8:42910612-42912755	GM19099	blood:	n/a	n/a
47	POLR2A	chr8:42912222-42912777	K562	blood:	n/a	n/a
48	USF1	chr8:42912513-42912808	SK-N-SH_RA	brain:	n/a	chr8:42912606-42912617 chr8:42912601-42912622 chr8:42912608-42912617 chr8:42912607-42912616 chr8:42912607-42912616 chr8:42912605-42912618
49	POLR2A	chr8:42910719-42912690	Hela-S3	cervix:	n/a	n/a
50	STAT3	chr8:42912566-42912766	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:42911426..42914017-chr8:42929851..42932634,2	K562	blood:
2	chr8:42697938..42699584-chr8:42910062..42912645,3	K562	blood:
3	chr17:57913947..57916769-chr8:42908901..42912808,3	MCF-7	breast:
4	chr8:42749450..42753570-chr8:42908450..42913824,10	K562	blood:
5	chr8:42696480..42700026-chr8:42910062..42913362,8	K562	blood:
6	chr8:42749514..42753230-chr8:42909984..42914905,15	K562	blood:
7	chr2:64751292..64752043-chr8:42911870..42912691,2	Hela-S3	cervix:
8	chr8:42909717..42915258-chr8:42945286..42950388,10	K562	blood:
9	chr8:42911413..42914228-chr8:42926941..42930671,3	MCF-7	breast:
10	chr8:42910109..42913983-chr8:42935455..42940036,4	K562	blood:
11	chr8:42747025..42751990-chr8:42908756..42912609,5	MCF-7	breast:
12	chr8:42910668..42913653-chr8:42931061..42934093,3	K562	blood:
13	chr8:42749163..42753793-chr8:42909851..42913083,6	MCF-7	breast:

Variant related genes	Relation type
FNTA	TF binding region
ENSG00000062716	Chromatin interaction
ENSG00000120925	Chromatin interaction
ENSG00000131931	Chromatin interaction
ENSG00000185900	Chromatin interaction
ENSG00000168172	Chromatin interaction
ENSG00000200731	Chromatin interaction
ENSG00000266044	Chromatin interaction
ENSG00000119844	Chromatin interaction
ENSG00000168522	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10453137	0.80[AFR][1000 genomes]
rs11987452	0.84[AFR][1000 genomes]
rs11988227	0.84[AFR][1000 genomes]
rs11989623	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11990369	0.80[AFR][1000 genomes]
rs11991133	0.80[AFR][1000 genomes]
rs11992397	0.80[AFR][1000 genomes]
rs11992660	0.80[AFR][1000 genomes]
rs11992682	0.80[AFR][1000 genomes]
rs11992987	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11993667	0.80[AFR][1000 genomes]
rs11993799	1.00[AMR][1000 genomes]
rs11994115	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11994318	0.80[AFR][1000 genomes]
rs11995172	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11995473	0.80[AFR][1000 genomes]
rs11998092	1.00[AMR][1000 genomes]
rs28718980	1.00[AMR][1000 genomes]
rs28799623	0.80[AFR][1000 genomes]
rs28840077	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35506493	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57071761	1.00[AMR][1000 genomes]
rs58081556	0.80[AFR][1000 genomes]
rs59213790	0.84[AFR][1000 genomes]
rs59592639	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60133450	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60443202	0.86[AFR][1000 genomes]
rs60782941	0.82[AFR][1000 genomes]
rs61093151	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61224035	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73627229	0.80[AFR][1000 genomes]
rs73627242	0.80[AFR][1000 genomes]
rs73627249	0.84[AFR][1000 genomes]
rs73627250	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73627252	0.80[AFR][1000 genomes]
rs73627273	0.80[AFR][1000 genomes]
rs73627274	0.80[AFR][1000 genomes]
rs73627276	0.80[AFR][1000 genomes]
rs73627278	0.80[AFR][1000 genomes]
rs73627280	0.80[AFR][1000 genomes]
rs73627282	0.80[AFR][1000 genomes]
rs73627294	0.86[AFR][1000 genomes]
rs73629103	0.85[AFR][1000 genomes]
rs73629110	0.88[AFR][1000 genomes]
rs73629127	0.84[AFR][1000 genomes]
rs73629198	1.00[AMR][1000 genomes]
rs73631561	1.00[AMR][1000 genomes]
rs73631573	1.00[AMR][1000 genomes]
rs73634623	1.00[AMR][1000 genomes]
rs73634627	1.00[AMR][1000 genomes]
rs73634652	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73634670	0.83[AFR][1000 genomes]
rs73634673	0.83[AFR][1000 genomes]
rs73634682	0.83[AFR][1000 genomes]
rs73634696	0.85[AFR][1000 genomes]
rs73635313	0.84[AFR][1000 genomes]
rs73635325	0.84[AFR][1000 genomes]
rs73635345	0.80[AFR][1000 genomes]
rs73635352	0.80[AFR][1000 genomes]
rs73635357	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73635362	0.80[AFR][1000 genomes]
rs73635364	0.80[AFR][1000 genomes]
rs73635366	0.80[AFR][1000 genomes]
rs73635368	0.80[AFR][1000 genomes]
rs73635370	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv533812	chr8:42755447-43528350	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv1032781	chr8:42772394-43461484	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv1021281	chr8:42807619-43472678	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
8	nsv429912	chr8:42852444-43701143	ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
9	nsv869499	chr8:42858608-43541986	Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
10	nsv916847	chr8:42858611-43541984	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
11	nsv1027779	chr8:42863024-43729296	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
12	nsv1025336	chr8:42905623-43333638	ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
13	nsv539564	chr8:42905623-43333638	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
14	nsv831302	chr8:42909483-43105520	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42910200-42913200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:42910400-42912600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:42910400-42912600	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr8:42910400-42912600	Active TSS	A549	lung
5	chr8:42910400-42912600	Active TSS	Monocytes-CD14+_RO01746	blood
6	chr8:42910400-42912800	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr8:42910400-42913000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr8:42910400-42913200	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr8:42910400-42913200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:42910400-42913200	Active TSS	HSMM	muscle
11	chr8:42910400-42913200	Active TSS	K562	blood
12	chr8:42910400-42913400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:42910600-42912600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:42910600-42912600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:42910600-42912600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:42910600-42912600	Active TSS	Brain Angular Gyrus	brain
17	chr8:42910600-42912600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:42910600-42912600	Active TSS	Fetal Kidney	kidney
19	chr8:42910600-42912600	Active TSS	Psoas Muscle	Psoas
20	chr8:42910600-42912800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:42910600-42912800	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr8:42910600-42912800	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr8:42910600-42912800	Active TSS	Ovary	ovary
24	chr8:42910600-42912800	Active TSS	Right Ventricle	heart
25	chr8:42910600-42913000	Active TSS	H1 Cell Line	embryonic stem cell
26	chr8:42910600-42913000	Active TSS	H9 Cell Line	embryonic stem cell
27	chr8:42910600-42913000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:42910600-42913000	Active TSS	GM12878-XiMat	blood
29	chr8:42910600-42913200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:42910600-42913200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:42910600-42913200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:42910800-42912600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr8:42910800-42912600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:42910800-42912600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:42910800-42912600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr8:42910800-42912600	Active TSS	Muscle Satellite Cultured Cells	--
37	chr8:42910800-42912600	Active TSS	Liver	Liver
38	chr8:42910800-42912600	Active TSS	Esophagus	oesophagus
39	chr8:42910800-42912600	Active TSS	Gastric	stomach
40	chr8:42910800-42912600	Active TSS	Left Ventricle	heart
41	chr8:42910800-42912600	Active TSS	Lung	lung
42	chr8:42910800-42912600	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr8:42910800-42912600	Active TSS	Stomach Mucosa	stomach
44	chr8:42910800-42912800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:42910800-42912800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr8:42910800-42912800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr8:42910800-42912800	Active TSS	Fetal Intestine Small	intestine
48	chr8:42910800-42912800	Active TSS	Placenta	Placenta
49	chr8:42910800-42912800	Bivalent/Poised TSS	HepG2	liver
50	chr8:42910800-42913000	Active TSS	Hela-S3	cervix

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