Variant report

Variant	rs28699569
Chromosome Location	chr8:48920671-48920672
allele	A/G
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	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
2	BHLHE40	chr8:48920643-48921428	GM12878	blood:	n/a	chr8:48921081-48921097 chr8:48921092-48921108
3	POLR2A	chr8:48920600-48921547	K562	blood:	n/a	n/a
4	FOXM1	chr8:48920567-48921435	GM12878	blood:	n/a	n/a
5	POLR2A	chr8:48920668-48921509	GM18951	blood:	n/a	n/a
6	ELF1	chr8:48920538-48921478	GM12878	blood:	n/a	chr8:48920949-48920960 chr8:48920950-48920959 chr8:48920947-48920960 chr8:48920949-48920960
7	MXI1	chr8:48920270-48921751	IMR90	lung:	n/a	n/a
8	E2F6	chr8:48920237-48921490	K562	blood:	n/a	chr8:48921094-48921104 chr8:48920940-48920949 chr8:48921301-48921310 chr8:48920986-48920996
9	POLR2A	chr8:48920645-48921817	GM12891	blood:	n/a	n/a
10	GABPA	chr8:48920616-48921485	K562	blood:	n/a	chr8:48920873-48920882 chr8:48921301-48921310
11	POLR2A	chr8:48919920-48921853	SK-N-MC	brain:	n/a	n/a
12	CREB1	chr8:48920631-48921531	GM12878	blood:	n/a	n/a
13	CREB1	chr8:48920513-48921532	HepG2	liver:	n/a	n/a
14	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
15	POU2F2	chr8:48920664-48921349	GM12878	blood:	n/a	n/a
16	NR2F2	chr8:48920619-48921307	MCF-7	breast:	n/a	n/a
17	POLR2A	chr8:48920362-48921656	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr8:48920671-48921527	K562	blood:	n/a	n/a
19	MAZ	chr8:48920312-48921816	IMR90	lung:	n/a	chr8:48920870-48920880 chr8:48920869-48920878 chr8:48920871-48920880 chr8:48920872-48920879 chr8:48920869-48920884 chr8:48920867-48920882
20	MYC	chr8:48920503-48921364	MCF-7	breast:	n/a	chr8:48920870-48920880 chr8:48920869-48920878 chr8:48920871-48920880 chr8:48920872-48920879 chr8:48920869-48920884 chr8:48920867-48920882
21	REST	chr8:48920547-48921837	H1-neurons	neurons:	n/a	chr8:48921079-48921092
22	POLR2A	chr8:48920548-48921398	A549	lung:	n/a	n/a
23	MYC	chr8:48920611-48921272	MCF-7	breast:	n/a	chr8:48920870-48920880 chr8:48920869-48920878 chr8:48920871-48920880 chr8:48920872-48920879 chr8:48920869-48920884 chr8:48920867-48920882
24	JUN	chr8:48920632-48921950	K562	blood:	n/a	n/a
25	GTF3C2	chr8:48920198-48921250	K562	blood:	n/a	n/a
26	POLR2A	chr8:48920583-48921531	GM12892	blood:	n/a	n/a
27	MYC	chr8:48920352-48921568	A549	lung:	n/a	chr8:48920870-48920880 chr8:48920869-48920878 chr8:48920871-48920880 chr8:48920872-48920879 chr8:48920869-48920884 chr8:48920867-48920882
28	POLR2A	chr8:48920490-48921412	MCF-7	breast:	n/a	n/a
29	POLR2A	chr8:48920560-48921649	GM12878	blood:	n/a	n/a
30	POLR2A	chr8:48920564-48921608	PANC-1	pancreas:	n/a	n/a
31	SIN3AK20	chr8:48920386-48921546	MCF-7	breast:	n/a	n/a
32	MAX	chr8:48920544-48921444	K562	blood:	n/a	chr8:48920870-48920880 chr8:48920869-48920878 chr8:48920871-48920880 chr8:48920872-48920879 chr8:48920869-48920884 chr8:48920867-48920882
33	GATA1	chr8:48920392-48921868	PBDE	blood:	n/a	n/a
34	MYC	chr8:48920432-48921517	K562	blood:	n/a	chr8:48920870-48920880 chr8:48920869-48920878 chr8:48920871-48920880 chr8:48920872-48920879 chr8:48920869-48920884 chr8:48920867-48920882
35	REST	chr8:48920653-48921443	HL-60	blood:	n/a	chr8:48921079-48921092
36	CBX3	chr8:48920321-48920964	K562	blood:	n/a	n/a
37	POLR2A	chr8:48920621-48921192	HepG2	liver:	n/a	n/a
38	POLR2A	chr8:48920605-48921211	SK-N-MC	brain:	n/a	n/a
39	YY1	chr8:48920543-48921456	HepG2	liver:	n/a	n/a
40	POLR2A	chr8:48920501-48921635	GM12892	blood:	n/a	n/a
41	USF1	chr8:48920665-48921081	ECC-1	luminal epithelium:	n/a	n/a
42	MAX	chr8:48920521-48921167	MCF-7	breast:	n/a	chr8:48920870-48920880 chr8:48920869-48920878 chr8:48920871-48920880 chr8:48920872-48920879 chr8:48920869-48920884 chr8:48920867-48920882
43	POLR2A	chr8:48920499-48921476	A549	lung:	n/a	n/a
44	POLR2A	chr8:48920506-48921443	MCF-7	breast:	n/a	n/a
45	REST	chr8:48920613-48921237	A549	lung:	n/a	chr8:48921079-48921092
46	CREB1	chr8:48920637-48921598	K562	blood:	n/a	n/a
47	POLR2A	chr8:48920661-48921501	GM18505	blood:	n/a	n/a
48	CEBPB	chr8:48920365-48920997	A549	lung:	n/a	n/a
49	POLR2A	chr8:48920148-48921558	HepG2	liver:	n/a	n/a
50	CEBPB	chr8:48920368-48920756	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	chr8:48886822..48888941-chr8:48919839..48922442,3	MCF-7	breast:
4	chr8:48885569..48887967-chr8:48920138..48922569,2	K562	blood:
5	chr8:48870802..48875414-chr8:48919446..48923770,8	MCF-7	breast:
6	chr15:60770926..60771435-chr8:48920467..48921398,2	Hela-S3	cervix:
7	chr8:48871383..48875366-chr8:48919489..48922712,6	MCF-7	breast:

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

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10093943	0.90[AFR][1000 genomes]
rs10095249	0.90[AFR][1000 genomes]
rs10097429	0.90[AFR][1000 genomes]
rs11987748	0.90[AFR][1000 genomes]
rs11998483	0.86[AFR][1000 genomes]
rs17287711	0.88[AFR][1000 genomes]
rs28488251	0.90[AFR][1000 genomes]
rs28542480	0.90[AFR][1000 genomes]
rs28701667	0.82[AFR][1000 genomes]
rs28719542	0.88[AFR][1000 genomes]
rs28751111	0.90[AFR][1000 genomes]
rs35590911	0.90[AFR][1000 genomes]
rs6982203	0.82[AFR][1000 genomes]
rs6984595	0.80[AFR][1000 genomes]
rs7002719	0.88[AFR][1000 genomes]
rs7841307	0.88[AFR][1000 genomes]
rs8178024	0.82[AFR][1000 genomes]
rs8178037	0.86[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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48920200-48920800	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr8:48920200-48920800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr8:48920200-48920800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr8:48920200-48920800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:48920200-48920800	Flanking Active TSS	HepG2	liver
6	chr8:48920200-48921000	Flanking Active TSS	Dnd41	blood
7	chr8:48920200-48921400	Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr8:48920200-48921600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
9	chr8:48920200-48921600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr8:48920200-48921600	Active TSS	Brain Angular Gyrus	brain
11	chr8:48920200-48921600	Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr8:48920200-48921800	Active TSS	Colon Smooth Muscle	Colon
13	chr8:48920200-48922000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:48920200-48922000	Active TSS	Brain Hippocampus Middle	brain
15	chr8:48920200-48922000	Active TSS	Duodenum Mucosa	Duodenum
16	chr8:48920200-48922000	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr8:48920200-48922000	Active TSS	Hela-S3	cervix
18	chr8:48920200-48922200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:48920200-48922200	Active TSS	Rectal Smooth Muscle	rectum
20	chr8:48920200-48922200	Active TSS	Stomach Smooth Muscle	stomach
21	chr8:48920200-48922200	Active TSS	A549	lung
22	chr8:48920200-48922400	Active TSS	Brain Germinal Matrix	brain
23	chr8:48920400-48920800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:48920400-48920800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:48920400-48920800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr8:48920400-48920800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr8:48920400-48920800	Flanking Active TSS	Primary B cells from peripheral blood	blood
28	chr8:48920400-48920800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
29	chr8:48920400-48920800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr8:48920400-48920800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr8:48920400-48920800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr8:48920400-48920800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr8:48920400-48920800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:48920400-48920800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:48920400-48920800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr8:48920400-48920800	Flanking Active TSS	Fetal Muscle Trunk	muscle
37	chr8:48920400-48920800	Flanking Active TSS	Fetal Muscle Leg	muscle
38	chr8:48920400-48920800	Flanking Active TSS	Placenta	Placenta
39	chr8:48920400-48920800	Flanking Active TSS	Fetal Thymus	thymus
40	chr8:48920400-48920800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr8:48920400-48921400	Active TSS	Primary T cells from cord blood	blood
42	chr8:48920400-48921400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr8:48920400-48921400	Active TSS	Liver	Liver
44	chr8:48920400-48921400	Enhancers	Fetal Brain Male	brain
45	chr8:48920400-48921600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:48920400-48921600	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr8:48920400-48921600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr8:48920400-48921600	Active TSS	Fetal Stomach	stomach
49	chr8:48920400-48921600	Active TSS	Pancreas	Pancrea
50	chr8:48920400-48921600	Active TSS	Monocytes-CD14+_RO01746	blood

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