Variant report

Variant	rs28542480
Chromosome Location	chr8:48920946-48920947
allele	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	TBL1XR1	chr8:48920874-48921546	K562	blood:	n/a	n/a
2	SIN3AK20	chr8:48920707-48921526	K562	blood:	n/a	n/a
3	MAX	chr8:48920648-48921153	SK-N-SH	brain:	n/a	chr8:48920870-48920880 chr8:48920869-48920878 chr8:48920871-48920880 chr8:48920872-48920879 chr8:48920869-48920884 chr8:48920867-48920882
4	TAF1	chr8:48920771-48921551	H1-neurons	neurons:	n/a	n/a
5	USF1	chr8:48920773-48921084	K562	blood:	n/a	n/a
6	BHLHE40	chr8:48920643-48921428	GM12878	blood:	n/a	chr8:48921081-48921097 chr8:48921092-48921108
7	MYC	chr8:48920720-48921115	MCF-7	breast:	n/a	chr8:48920870-48920880 chr8:48920869-48920878 chr8:48920871-48920880 chr8:48920872-48920879 chr8:48920869-48920884 chr8:48920867-48920882
8	POLR2A	chr8:48920689-48921739	HUVEC	blood vessel:	n/a	n/a
9	TBP	chr8:48920735-48921351	H1-hESC	embryonic stem cell:	n/a	n/a
10	EP300	chr8:48920807-48921334	HepG2	liver:	n/a	chr8:48920952-48920959 chr8:48921301-48921310
11	TAF1	chr8:48920680-48921327	MCF-7	breast:	n/a	n/a
12	CTCF	chr8:48920871-48921019	Spleen_OC	spleen:	n/a	n/a
13	ATF3	chr8:48920715-48921150	K562	blood:	n/a	n/a
14	POLR2A	chr8:48920600-48921547	K562	blood:	n/a	n/a
15	FOXM1	chr8:48920567-48921435	GM12878	blood:	n/a	n/a
16	POLR2A	chr8:48920668-48921509	GM18951	blood:	n/a	n/a
17	ATF3	chr8:48920846-48921194	A549	lung:	n/a	n/a
18	BRCA1	chr8:48920817-48921113	Hela-S3	cervix:	n/a	n/a
19	HDAC2	chr8:48920761-48920983	K562	blood:	n/a	n/a
20	TBP	chr8:48920817-48921679	HepG2	liver:	n/a	n/a
21	CREB1	chr8:48920728-48921426	H1-hESC	embryonic stem cell:	n/a	n/a
22	ELF1	chr8:48920538-48921478	GM12878	blood:	n/a	chr8:48920949-48920960 chr8:48920950-48920959 chr8:48920947-48920960 chr8:48920949-48920960
23	NRF1	chr8:48920826-48921077	H1-hESC	embryonic stem cell:	n/a	chr8:48920873-48920882
24	USF1	chr8:48920738-48920974	A549	lung:	n/a	n/a
25	MXI1	chr8:48920270-48921751	IMR90	lung:	n/a	n/a
26	GTF2F1	chr8:48920726-48921110	Hela-S3	cervix:	n/a	n/a
27	JUND	chr8:48920772-48921405	GM12878	blood:	n/a	n/a
28	EGR1	chr8:48920773-48921389	GM12878	blood:	n/a	chr8:48920976-48920985 chr8:48920951-48920960
29	E2F6	chr8:48920237-48921490	K562	blood:	n/a	chr8:48921094-48921104 chr8:48920940-48920949 chr8:48921301-48921310 chr8:48920986-48920996
30	HNF4G	chr8:48920742-48921244	HepG2	liver:	n/a	n/a
31	POLR2A	chr8:48920719-48921506	GM12892	blood:	n/a	n/a
32	POLR2A	chr8:48920645-48921817	GM12891	blood:	n/a	n/a
33	TCF12	chr8:48920747-48921175	A549	lung:	n/a	n/a
34	GABPA	chr8:48920616-48921485	K562	blood:	n/a	chr8:48920873-48920882 chr8:48921301-48921310
35	BCLAF1	chr8:48920710-48921420	GM12878	blood:	n/a	chr8:48920936-48920949 chr8:48920951-48920960
36	POLR2A	chr8:48919920-48921853	SK-N-MC	brain:	n/a	n/a
37	MXI1	chr8:48920697-48921190	H1-hESC	embryonic stem cell:	n/a	n/a
38	RCOR1	chr8:48920714-48921198	Hela-S3	cervix:	n/a	n/a
39	JUND	chr8:48920730-48921478	K562	blood:	n/a	n/a
40	YY1	chr8:48920834-48921174	A549	lung:	n/a	n/a
41	RELA	chr8:48920698-48921422	GM12891	blood:	n/a	n/a
42	CREB1	chr8:48920631-48921531	GM12878	blood:	n/a	n/a
43	CREB1	chr8:48920513-48921532	HepG2	liver:	n/a	n/a
44	USF1	chr8:48920704-48921052	A549	lung:	n/a	n/a
45	MYC	chr8:48920639-48921368	HepG2	liver:	n/a	chr8:48920870-48920880 chr8:48920869-48920878 chr8:48920871-48920880 chr8:48920872-48920879 chr8:48920869-48920884 chr8:48920867-48920882
46	TEAD4	chr8:48920708-48921216	K562	blood:	n/a	n/a
47	POU2F2	chr8:48920664-48921349	GM12878	blood:	n/a	n/a
48	ATF2	chr8:48920689-48921069	GM12878	blood:	n/a	n/a
49	REST	chr8:48920861-48921210	A549	lung:	n/a	chr8:48921079-48921092
50	GTF2B	chr8:48920816-48921132	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:48871246..48875685-chr8:48919504..48923066,10	K562	blood:
2	chr8:48870843..48877121-chr8:48919292..48922738,10	K562	blood:
3	chr1:28974788..28975451-chr8:48920936..48921691,2	Hela-S3	cervix:
4	chr20:62168380..62169266-chr8:48920756..48921435,2	Hela-S3	cervix:
5	chr8:48886822..48888941-chr8:48919839..48922442,3	MCF-7	breast:
6	chr8:48885569..48887967-chr8:48920138..48922569,2	K562	blood:
7	chr8:48870802..48875414-chr8:48919446..48923770,8	MCF-7	breast:
8	chr15:60770926..60771435-chr8:48920467..48921398,2	Hela-S3	cervix:
9	chr8:48871383..48875366-chr8:48919489..48922712,6	MCF-7	breast:
10	chr19:50879673..50880251-chr8:48920915..48921687,2	Hela-S3	cervix:

Variant related genes	Relation type
UBE2V2	TF binding region
ENSG00000128915	Chromatin interaction
ENSG00000131408	Chromatin interaction
ENSG00000253729	Chromatin interaction
ENSG00000270103	Chromatin interaction
ENSG00000101213	Chromatin interaction
ENSG00000245534	Chromatin interaction
ENSG00000104738	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10093943	1.00[AFR][1000 genomes]
rs10095249	1.00[AFR][1000 genomes]
rs10097429	1.00[AFR][1000 genomes]
rs11987748	1.00[AFR][1000 genomes]
rs11998483	0.96[AFR][1000 genomes]
rs17287711	0.98[AFR][1000 genomes]
rs28488251	1.00[AFR][1000 genomes]
rs28699569	0.90[AFR][1000 genomes]
rs28701667	0.91[AFR][1000 genomes]
rs28719542	0.98[AFR][1000 genomes]
rs28751111	1.00[AFR][1000 genomes]
rs28812773	0.83[AFR][1000 genomes]
rs35590911	1.00[AFR][1000 genomes]
rs6473874	0.87[AFR][1000 genomes]
rs6982203	0.91[AFR][1000 genomes]
rs6984595	0.90[AFR][1000 genomes]
rs7002719	0.98[AFR][1000 genomes]
rs7819424	0.87[AFR][1000 genomes]
rs7828134	0.83[AFR][1000 genomes]
rs7839604	0.83[AFR][1000 genomes]
rs7841307	0.98[AFR][1000 genomes]
rs8177999	0.89[AFR][1000 genomes]
rs8178024	0.91[AFR][1000 genomes]
rs8178037	0.96[AFR][1000 genomes]
rs8178117	0.87[AFR][1000 genomes]
rs8178176	0.85[AFR][1000 genomes]
rs8178185	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2758156	chr8:48788293-49008014	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv2759611	chr8:48788293-49008014	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv427820	chr8:48788293-49008014	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv831309	chr8:48815290-48977856	Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1033760	chr8:48852925-48961374	Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1020619	chr8:48871586-48932988	Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1032750	chr8:48877179-48924828	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv8338	chr8:48916944-48922357	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	esv3426895	chr8:48920299-48922397	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 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	chr8:48920200-48921000	Flanking Active TSS	Dnd41	blood
2	chr8:48920200-48921400	Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr8:48920200-48921600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
4	chr8:48920200-48921600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr8:48920200-48921600	Active TSS	Brain Angular Gyrus	brain
6	chr8:48920200-48921600	Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr8:48920200-48921800	Active TSS	Colon Smooth Muscle	Colon
8	chr8:48920200-48922000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:48920200-48922000	Active TSS	Brain Hippocampus Middle	brain
10	chr8:48920200-48922000	Active TSS	Duodenum Mucosa	Duodenum
11	chr8:48920200-48922000	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr8:48920200-48922000	Active TSS	Hela-S3	cervix
13	chr8:48920200-48922200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:48920200-48922200	Active TSS	Rectal Smooth Muscle	rectum
15	chr8:48920200-48922200	Active TSS	Stomach Smooth Muscle	stomach
16	chr8:48920200-48922200	Active TSS	A549	lung
17	chr8:48920200-48922400	Active TSS	Brain Germinal Matrix	brain
18	chr8:48920400-48921400	Active TSS	Primary T cells from cord blood	blood
19	chr8:48920400-48921400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr8:48920400-48921400	Active TSS	Liver	Liver
21	chr8:48920400-48921400	Enhancers	Fetal Brain Male	brain
22	chr8:48920400-48921600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:48920400-48921600	Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr8:48920400-48921600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr8:48920400-48921600	Active TSS	Fetal Stomach	stomach
26	chr8:48920400-48921600	Active TSS	Pancreas	Pancrea
27	chr8:48920400-48921600	Active TSS	Monocytes-CD14+_RO01746	blood
28	chr8:48920400-48921800	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr8:48920400-48921800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr8:48920400-48921800	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr8:48920400-48921800	Active TSS	Ovary	ovary
32	chr8:48920400-48921800	Active TSS	Thymus	Thymus
33	chr8:48920400-48922000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:48920400-48922000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:48920400-48922000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:48920400-48922000	Active TSS	Muscle Satellite Cultured Cells	--
37	chr8:48920400-48922000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:48920400-48922000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:48920400-48922000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr8:48920400-48922000	Active TSS	Fetal Kidney	kidney
41	chr8:48920400-48922000	Active TSS	Psoas Muscle	Psoas
42	chr8:48920400-48922000	Active TSS	Right Ventricle	heart
43	chr8:48920400-48922000	Active TSS	HSMM	muscle
44	chr8:48920400-48922000	Active TSS	NH-A	brain
45	chr8:48920400-48922200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr8:48920400-48922200	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr8:48920400-48922200	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr8:48920400-48922200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr8:48920400-48922200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr8:48920400-48922200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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