Variant report

Variant	rs8177999
Chromosome Location	chr8:48872671-48872672
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	SP1	chr8:48872371-48873806	A549	lung:	n/a	chr8:48873594-48873604 chr8:48873409-48873421 chr8:48872750-48872762 chr8:48872750-48872762 chr8:48873594-48873604 chr8:48872752-48872761 chr8:48872751-48872760
2	GABPA	chr8:48872483-48873054	HL-60	blood:	n/a	chr8:48872705-48872716 chr8:48872702-48872716
3	TAF1	chr8:48872391-48873130	H1-hESC	embryonic stem cell:	n/a	n/a
4	PML	chr8:48872312-48873797	K562	blood:	n/a	n/a
5	POLR2A	chr8:48872482-48872829	HepG2	liver:	n/a	n/a
6	HDAC2	chr8:48872310-48873772	MCF-7	breast:	n/a	chr8:48872705-48872714
7	MAX	chr8:48872326-48874060	SK-N-SH	brain:	n/a	n/a
8	EGR1	chr8:48872513-48873025	ECC-1	luminal epithelium:	n/a	chr8:48872751-48872761 chr8:48872694-48872708 chr8:48872747-48872761 chr8:48872746-48872759 chr8:48872706-48872715
9	MXI1	chr8:48872328-48873687	H1-hESC	embryonic stem cell:	n/a	n/a
10	ELF1	chr8:48872438-48873081	HepG2	liver:	n/a	chr8:48872729-48872738 chr8:48872749-48872761 chr8:48872728-48872739 chr8:48872726-48872739 chr8:48872748-48872757
11	MXI1	chr8:48872288-48874023	GM12878	blood:	n/a	n/a
12	RCOR1	chr8:48872590-48873607	K562	blood:	n/a	n/a
13	GTF2F1	chr8:48872559-48873679	K562	blood:	n/a	n/a
14	POLR2A	chr8:48872460-48873055	GM12891	blood:	n/a	n/a
15	POLR2A	chr8:48872439-48873120	ECC-1	luminal epithelium:	n/a	n/a
16	ETS1	chr8:48872371-48872992	K562	blood:	n/a	n/a
17	TRIM28	chr8:48872387-48873810	K562	blood:	n/a	n/a
18	POLR2A	chr8:48872336-48874857	GM12892	blood:	n/a	n/a
19	YY1	chr8:48872373-48873092	ECC-1	luminal epithelium:	n/a	chr8:48872757-48872768 chr8:48872763-48872777 chr8:48872831-48872853
20	POLR2A	chr8:48872472-48873951	HUVEC	blood vessel:	n/a	n/a
21	MAX	chr8:48872455-48874506	Hela-S3	cervix:	n/a	n/a
22	MYC	chr8:48872418-48872948	MCF-7	breast:	n/a	n/a
23	MYC	chr8:48872625-48872889	HepG2	liver:	n/a	n/a
24	EP300	chr8:48872355-48873775	SK-N-SH	brain:	n/a	chr8:48872757-48872773 chr8:48872764-48872780 chr8:48872761-48872777 chr8:48873624-48873640
25	TFAP2C	chr8:48872562-48874511	Hela-S3	cervix:	n/a	n/a
26	UBTF	chr8:48872387-48873687	K562	blood:	n/a	n/a
27	POLR2A	chr8:48872461-48872924	A549	lung:	n/a	n/a
28	EGR1	chr8:48872573-48872863	GM12878	blood:	n/a	chr8:48872751-48872761 chr8:48872694-48872708 chr8:48872747-48872761 chr8:48872746-48872759 chr8:48872706-48872715
29	YY1	chr8:48872370-48874168	GM12878	blood:	n/a	chr8:48873803-48873817 chr8:48872757-48872768 chr8:48872763-48872777 chr8:48873449-48873463 chr8:48873808-48873817 chr8:48873811-48873825 chr8:48872831-48872853 chr8:48873407-48873421
30	MAX	chr8:48872345-48874509	HepG2	liver:	n/a	n/a
31	POLR2A	chr8:48872370-48874072	MCF10A-Er-Src	breast:	n/a	n/a
32	NFIC	chr8:48872539-48873053	HepG2	liver:	n/a	n/a
33	SP4	chr8:48872537-48873632	H1-hESC	embryonic stem cell:	n/a	n/a
34	HEY1	chr8:48872366-48873696	HepG2	liver:	n/a	chr8:48872754-48872769
35	HDAC2	chr8:48872476-48872864	HepG2	liver:	n/a	chr8:48872705-48872714
36	NR2F2	chr8:48872418-48873784	MCF-7	breast:	n/a	n/a
37	POLR2A	chr8:48872349-48873782	GM12891	blood:	n/a	n/a
38	GABPA	chr8:48872244-48873645	MCF-7	breast:	n/a	chr8:48872705-48872716 chr8:48872702-48872716
39	FOXM1	chr8:48872518-48873698	GM12878	blood:	n/a	n/a
40	POLR2A	chr8:48872396-48873724	GM12878	blood:	n/a	n/a
41	JUN	chr8:48872196-48873630	K562	blood:	n/a	chr8:48872266-48872275
42	TAF1	chr8:48872493-48873025	GM12878	blood:	n/a	n/a
43	TCF12	chr8:48872248-48873900	ECC-1	luminal epithelium:	n/a	chr8:48873836-48873843
44	MAX	chr8:48872466-48874507	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr8:48872216-48874466	K562	blood:	n/a	n/a
46	PML	chr8:48872408-48873080	GM12878	blood:	n/a	n/a
47	POLR2A	chr8:48872247-48873745	GM12891	blood:	n/a	n/a
48	RFX5	chr8:48872505-48872976	HepG2	liver:	n/a	n/a
49	GTF3C2	chr8:48872634-48873599	K562	blood:	n/a	n/a
50	REST	chr8:48872536-48872969	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:48871383..48875366-chr8:48919489..48922712,6	MCF-7	breast:
2	chr8:48871246..48875685-chr8:48919504..48923066,10	K562	blood:
3	chr15:66797411..66797929-chr8:48872333..48873322,2	Hela-S3	cervix:
4	chr8:48870802..48875414-chr8:48919446..48923770,8	MCF-7	breast:
5	chr8:48851587..48857130-chr8:48871349..48874968,8	MCF-7	breast:
6	chr8:48870843..48877121-chr8:48919292..48922738,10	K562	blood:
7	chr15:65587346..65589708-chr8:48871280..48874133,2	MCF-7	breast:
8	chr8:48870534..48872766-chr8:48885611..48888462,2	MCF-7	breast:

Variant related genes	Relation type
MCM4	TF binding region
PRKDC	TF binding region
ENSG00000174442	Chromatin interaction
ENSG00000169139	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000253729	Chromatin interaction
ENSG00000104738	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10093943	0.87[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10095249	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10097429	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10106803	0.94[YRI][hapmap]
rs11987748	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11998483	0.85[AFR][1000 genomes]
rs17287711	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28488251	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28542480	0.89[AFR][1000 genomes]
rs28701667	0.81[AFR][1000 genomes]
rs28719542	0.86[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28751111	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35590911	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6982203	0.81[AFR][1000 genomes]
rs7002719	0.86[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7828134	1.00[YRI][hapmap]
rs7841307	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8178024	0.81[AFR][1000 genomes]
rs8178037	0.85[AFR][1000 genomes]
rs8178240	0.88[YRI][hapmap]

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	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1021389	chr8:48700970-48880931	Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv539599	chr8:48700970-48880931	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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
10	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48870600-48874200	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr8:48870600-48874600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr8:48870600-48874600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:48870800-48874000	Active TSS	GM12878-XiMat	blood
5	chr8:48871000-48873200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:48871000-48874000	Active TSS	HMEC	breast
7	chr8:48871000-48874200	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr8:48871200-48874000	Active TSS	A549	lung
9	chr8:48871200-48874000	Active TSS	NHDF-Ad	bronchial
10	chr8:48871200-48874200	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr8:48871200-48874200	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr8:48871200-48874200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:48871200-48874600	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr8:48871400-48873400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:48871400-48874000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:48871400-48874000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:48871400-48874000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:48871400-48874000	Active TSS	Brain Germinal Matrix	brain
19	chr8:48871400-48874000	Active TSS	K562	blood
20	chr8:48871400-48874000	Active TSS	NHLF	lung
21	chr8:48871400-48874200	Active TSS	Hela-S3	cervix
22	chr8:48871400-48874600	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr8:48871600-48874000	Active TSS	H1 Cell Line	embryonic stem cell
24	chr8:48871600-48874000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:48871600-48874000	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr8:48871600-48874000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:48871600-48874000	Active TSS	Left Ventricle	heart
28	chr8:48871600-48874000	Active TSS	Right Ventricle	heart
29	chr8:48871600-48874000	Active TSS	HSMM	muscle
30	chr8:48871600-48874200	Active TSS	Placenta Amnion	Placenta Amnion
31	chr8:48871600-48874200	Active TSS	HSMMtube	muscle
32	chr8:48871600-48874400	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr8:48871600-48874400	Active TSS	Psoas Muscle	Psoas
34	chr8:48871600-48874600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr8:48871600-48875000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr8:48871800-48872800	Active TSS	HUVEC	blood vessel
37	chr8:48871800-48873000	Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr8:48871800-48873800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:48871800-48873800	Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr8:48871800-48873800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr8:48871800-48873800	Active TSS	Colonic Mucosa	Colon
42	chr8:48871800-48873800	Active TSS	Lung	lung
43	chr8:48871800-48874000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr8:48871800-48874000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:48871800-48874000	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr8:48871800-48874000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:48871800-48874000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:48871800-48874000	Active TSS	Muscle Satellite Cultured Cells	--
49	chr8:48871800-48874000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:48871800-48874000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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